Scholars@Duke
Kyle Walsh

Kyle Walsh

Associate Professor in Neurosurgery
Neurosurgery
kyle.walsh@duke.edu
DUMC Box 3050, Durham, NC 27710
571 Research Drive, MSRB-1, Rm 442, Durham, NC 27710
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Selected Publications

Maternal Substance Use and Childhood Cancer-Reply.

Journal Article Cancer Epidemiol Biomarkers Prev · July 1, 2024 Full text Link to item Cite

Genetic variation near GRB10 associated with bone growth and osteosarcoma risk in canine and human populations.

Journal Article Cancer Epidemiol · June 12, 2024 BACKGROUND: Canine and human osteosarcoma are similar in clinical presentation and tumor genomics. Giant breed dogs experience elevated osteosarcoma incidence, and taller stature remains a consistent risk factor for human osteosarcoma. Whether evolutionari ... Full text Link to item Cite

An Atlas Characterizing the Shared Genetic Architecture of Inflammatory Bowel Disease with Clinical and Behavioral Traits.

Journal Article Inflamm Bowel Dis · June 3, 2024 BACKGROUND: Inflammatory bowel disease (IBD) development is a complex, multifactorial process that involves extrinsic and intrinsic factors such as host genetics, the immune system, the gut microbiome, and environmental risks. To help understand the geneti ... Full text Link to item Cite

Identifying associations between genetic conditions in offspring and pregnancy health complications

Journal Article Reproductive, Female and Child Health · June 2024 AbstractBackgroundPrior research has identified associations between pregnancy complications and specific genetic diagnoses in offspring.Objective ... Full text Cite

Meningioma: International Consortium on Meningiomas (ICOM) consensus review on scientific advances & treatment paradigms for clinicians, researchers, and patients.

Journal Article Neuro Oncol · May 2, 2024 Meningiomas are the most common primary intracranial tumors in adults and are increasing in incidence due to the aging population and the rising availability of neuroimaging. While most exhibit non-malignant behaviour, a subset of meningiomas are biologica ... Full text Link to item Cite

Association of county-level socioeconomic status with meningioma incidence and outcomes.

Journal Article Neuro Oncol · April 5, 2024 BACKGROUND: Prior literature suggests that individual socioeconomic status (SES) may influence incidence, treatments, and survival of brain tumor cases. We aim to conduct the first national study to evaluate the association between US county-level SES and ... Full text Link to item Cite

Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes.

Journal Article Cancer Epidemiol Biomarkers Prev · March 1, 2024 BACKGROUND: The association between childhood cancer risk and maternal prenatal substance use/abuse remains uncertain due to modest sample sizes and heterogeneous study designs. METHODS: We surveyed parents of children with cancer regarding maternal gestat ... Full text Link to item Cite

Supplementary Table S1 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Comparison of demographic characteristics of respondents reporting any maternal substance use during pregnancy vs. those reporting no substance use</p> ... Full text Cite

Supplementary Table S1 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Comparison of demographic characteristics of respondents reporting any maternal substance use during pregnancy vs. those reporting no substance use</p> ... Full text Cite

Supplementary Table S3 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Associations between prenatal substance use and childhood cancer subtype in subset of biological mother respondents</p> ... Full text Cite

Data from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <div>AbstractBackground:<p>The association between childhood cancer risk and maternal prenatal substance use/abuse remains uncertain due to modest sample sizes and heterogeneous study designs.</p>Methods:<p>We surveyed paren ... Full text Cite

Supplementary Table S2 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Univariate associations between prenatal substance use and childhood cancer subtype</p> ... Full text Cite

Supplementary Table S2 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Univariate associations between prenatal substance use and childhood cancer subtype</p> ... Full text Cite

Supplementary Table S3 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Associations between prenatal substance use and childhood cancer subtype in subset of biological mother respondents</p> ... Full text Cite

Data from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <div>AbstractBackground:<p>The association between childhood cancer risk and maternal prenatal substance use/abuse remains uncertain due to modest sample sizes and heterogeneous study designs.</p>Methods:<p>We surveyed paren ... Full text Cite

Coexisting Biopsy-Diagnosed Dementia and Glioblastoma.

Journal Article Brain Sci · January 30, 2024 Both glioblastoma (GBM) and dementia are devastating diseases with limited treatments that are usually not curative. Having clinically diagnosed dementia with an associated biopsy-proven etiology and a coexisting GBM diagnosis is a rare occurrence. The rel ... Full text Link to item Cite

Maternal Substance Use and Childhood Cancer-Reply.

Journal Article Cancer Epidemiol Biomarkers Prev · July 1, 2024 Full text Link to item Cite

Genetic variation near GRB10 associated with bone growth and osteosarcoma risk in canine and human populations.

Journal Article Cancer Epidemiol · June 12, 2024 BACKGROUND: Canine and human osteosarcoma are similar in clinical presentation and tumor genomics. Giant breed dogs experience elevated osteosarcoma incidence, and taller stature remains a consistent risk factor for human osteosarcoma. Whether evolutionari ... Full text Link to item Cite

An Atlas Characterizing the Shared Genetic Architecture of Inflammatory Bowel Disease with Clinical and Behavioral Traits.

Journal Article Inflamm Bowel Dis · June 3, 2024 BACKGROUND: Inflammatory bowel disease (IBD) development is a complex, multifactorial process that involves extrinsic and intrinsic factors such as host genetics, the immune system, the gut microbiome, and environmental risks. To help understand the geneti ... Full text Link to item Cite

Identifying associations between genetic conditions in offspring and pregnancy health complications

Journal Article Reproductive, Female and Child Health · June 2024 AbstractBackgroundPrior research has identified associations between pregnancy complications and specific genetic diagnoses in offspring.Objective ... Full text Cite

Meningioma: International Consortium on Meningiomas (ICOM) consensus review on scientific advances & treatment paradigms for clinicians, researchers, and patients.

Journal Article Neuro Oncol · May 2, 2024 Meningiomas are the most common primary intracranial tumors in adults and are increasing in incidence due to the aging population and the rising availability of neuroimaging. While most exhibit non-malignant behaviour, a subset of meningiomas are biologica ... Full text Link to item Cite

Association of county-level socioeconomic status with meningioma incidence and outcomes.

Journal Article Neuro Oncol · April 5, 2024 BACKGROUND: Prior literature suggests that individual socioeconomic status (SES) may influence incidence, treatments, and survival of brain tumor cases. We aim to conduct the first national study to evaluate the association between US county-level SES and ... Full text Link to item Cite

Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes.

Journal Article Cancer Epidemiol Biomarkers Prev · March 1, 2024 BACKGROUND: The association between childhood cancer risk and maternal prenatal substance use/abuse remains uncertain due to modest sample sizes and heterogeneous study designs. METHODS: We surveyed parents of children with cancer regarding maternal gestat ... Full text Link to item Cite

Supplementary Table S1 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Comparison of demographic characteristics of respondents reporting any maternal substance use during pregnancy vs. those reporting no substance use</p> ... Full text Cite

Supplementary Table S1 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Comparison of demographic characteristics of respondents reporting any maternal substance use during pregnancy vs. those reporting no substance use</p> ... Full text Cite

Supplementary Table S3 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Associations between prenatal substance use and childhood cancer subtype in subset of biological mother respondents</p> ... Full text Cite

Data from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <div>AbstractBackground:<p>The association between childhood cancer risk and maternal prenatal substance use/abuse remains uncertain due to modest sample sizes and heterogeneous study designs.</p>Methods:<p>We surveyed paren ... Full text Cite

Supplementary Table S2 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Univariate associations between prenatal substance use and childhood cancer subtype</p> ... Full text Cite

Supplementary Table S2 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Univariate associations between prenatal substance use and childhood cancer subtype</p> ... Full text Cite

Supplementary Table S3 from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <p>Associations between prenatal substance use and childhood cancer subtype in subset of biological mother respondents</p> ... Full text Cite

Data from Maternal Prenatal Use of Alcohol, Tobacco, and Illicit Drugs and Associations with Childhood Cancer Subtypes

Other · March 1, 2024 <div>AbstractBackground:<p>The association between childhood cancer risk and maternal prenatal substance use/abuse remains uncertain due to modest sample sizes and heterogeneous study designs.</p>Methods:<p>We surveyed paren ... Full text Cite

Coexisting Biopsy-Diagnosed Dementia and Glioblastoma.

Journal Article Brain Sci · January 30, 2024 Both glioblastoma (GBM) and dementia are devastating diseases with limited treatments that are usually not curative. Having clinically diagnosed dementia with an associated biopsy-proven etiology and a coexisting GBM diagnosis is a rare occurrence. The rel ... Full text Link to item Cite

Association Between Urbanicity and Outcomes Among Patients with Spinal Cord Ependymomas in the United States.

Journal Article World Neurosurg · January 2024 BACKGROUND: Spinal cord ependymomas (SCEs) represent the most common intramedullary spinal cord tumors among adults. Research shows that access to neurosurgical care and patient outcomes can be greatly influenced by patient location. This study investigate ... Full text Link to item Cite

Psychosocial burden after the death of a child from cancer: Results of a bereaved parent survey

Journal Article Death Studies · January 1, 2024 Parents experience lasting psychological distress after a child’s death from cancer. Limited evidence exists regarding difficult life events, duration of psychosocial impacts, and associated risk factors among bereaved parents. Alex’s Lemonade Stand Founda ... Full text Cite

Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus.

Journal Article Neuro Oncol · September 5, 2023 BACKGROUND: Although recent sequencing studies have revealed that 10% of childhood gliomas are caused by rare germline mutations, the role of common variants is undetermined and no genome-wide significant risk loci for pediatric central nervous system tumo ... Full text Link to item Cite

[18F]-fluoroethyl-L-tyrosine (FET) in glioblastoma (FIG) TROG 18.06 study: protocol for a prospective, multicentre PET/CT trial.

Journal Article BMJ Open · August 4, 2023 INTRODUCTION: Glioblastoma is the most common aggressive primary central nervous system cancer in adults characterised by uniformly poor survival. Despite maximal safe resection and postoperative radiotherapy with concurrent and adjuvant temozolomide-based ... Full text Link to item Cite

ADCC-activating antibodies correlate with decreased risk of congenital human cytomegalovirus transmission.

Journal Article JCI Insight · July 10, 2023 Human cytomegalovirus (HCMV) is the most common vertically transmitted infection worldwide, yet there are no vaccines or therapeutics to prevent congenital HCMV (cCMV) infection. Emerging evidence indicates that antibody Fc effector functions may be a prev ... Full text Link to item Cite

Capicua (CIC) mutations in gliomas in association with MAPK activation for exposing a potential therapeutic target.

Journal Article Med Oncol · June 8, 2023 Gliomas are the most prevalent neurological cancer in the USA and care modalities are not able to effectively combat these aggressive malignancies. Identifying new, more effective treatments require a deep understanding of the complex genetic variations an ... Full text Link to item Cite

Does congenital cytomegalovirus infection contribute to the development of acute lymphoblastic leukemia in children?

Journal Article Curr Opin Virol · June 2023 Cytomegalovirus (CMV) is a ubiquitous herpesvirus that has a profound impact on the host immune system. Congenital cytomegalovirus (cCMV) infection modulates neonatal immune cell compartments, yet the full impact of in utero exposure on developing fetal im ... Full text Link to item Cite

Systematic review and meta-analysis of the effect of adverse childhood experiences (ACEs) on brain-derived neurotrophic factor (BDNF) levels.

Journal Article Psychoneuroendocrinology · May 2023 There is continued interest in identifying dysregulated biomarkers that mediate associations between adverse childhood experiences (ACEs) and negative long-term health outcomes. However, little is known regarding how ACE exposure modulates neural biomarker ... Full text Link to item Cite

The Enduring Effects of COVID for Cancer Care: Learning from Real-Life Clinical Practice.

Journal Article Clin Cancer Res · May 1, 2023 For three years, COVID-19 has circulated among our communities and around the world, fundamentally changing social interactions, health care systems, and service delivery. For people living with (and receiving treatment for) cancer, pandemic conditions pre ... Full text Link to item Cite

The joint impacts of sex and race/ethnicity on incidence of grade 1 versus grades 2-3 meningioma across the lifespan.

Journal Article Neurooncol Adv · May 2023 BACKGROUND: Previous research has identified older age, African-American race, and female sex as meningioma risk factors, but there is limited information on their joint effects, or on how these demographic factors vary across strata of tumor grade. METHOD ... Full text Link to item Cite

Influence of county-level geographic/ancestral origin on glioma incidence and outcomes in US Hispanics.

Journal Article Neuro Oncol · February 14, 2023 BACKGROUND: Glioma incidence is 25% lower in Hispanics than White non-Hispanics. The US Hispanic population is diverse, and registry-based analyses may mask incidence differences associated with geographic/ancestral origins. METHODS: County-level glioma in ... Full text Link to item Cite

Assisted reproductive technology and association with childhood cancer subtypes.

Journal Article Cancer Med · February 2023 OBJECTIVES: To investigate the association between assisted reproductive technology (ART) use and childhood cancer subtype. STUDY DESIGN: We deployed a cross-sectional survey of 1701 parents of children with cancer about their ART use, demographics, and ge ... Full text Link to item Cite

Financial hardships and psychosocial outcomes among parents of children who die of cancer.

Journal Article Pediatr Blood Cancer · February 2023 BACKGROUND: Caregivers experience financial hardship during a child's cancer treatment and after their child's death. These bereaved caregivers also experience negative psychosocial outcomes following the death of a child, but the relationship between fina ... Full text Link to item Cite

Physician, patient, and caregiver support for a formal certification in pediatric neuro-oncology: A survey-based report from the SNO pediatrics working group.

Journal Article Neurooncol Adv · 2023 BACKGROUND: Although CNS tumors are the most common pediatric cancer in the United States, most physicians caring for these patients are not formally certified in the subspecialty. To determine support for developing a formal certification process in pedia ... Full text Link to item Cite

Patterns of care in adult histone mutant gliomas: Results of an international survey.

Journal Article Neurooncol Pract · December 2022 BACKGROUND: Histone mutant gliomas (HMG) with histone H3 K27 and G34 mutations are recognized as biologically discrete entities with distinct anatomical locations, younger age at presentation (in comparison to the most common high-grade gliomas, IDH wildty ... Full text Link to item Cite

An integrated genome and phenome-wide association study approach to understanding Alzheimer's disease predisposition.

Journal Article Neurobiol Aging · October 2022 Genome-wide association studies (GWAS) have identified common single nucleotide polymorphisms (SNPs) that increase late-onset Alzheimer's disease (LOAD) risk. To identify additional LOAD-associated variants and provide insight into underlying disease biolo ... Full text Link to item Cite

Localized variation in ancestral admixture identifies pilocytic astrocytoma risk loci among Latino children.

Journal Article PLoS Genet · September 2022 BACKGROUND: Pilocytic astrocytoma (PA) is the most common pediatric brain tumor. PA has at least a 50% higher incidence in populations of European ancestry compared to other ancestral groups, which may be due in part to genetic differences. METHODS: We fir ... Full text Link to item Cite

Maternal Fc-mediated non-neutralizing antibody responses correlate with protection against congenital human cytomegalovirus infection.

Journal Article J Clin Invest · August 15, 2022 Human cytomegalovirus (HCMV) is the most common congenital infection and a leading cause of stillbirth, neurodevelopmental impairment, and pediatric hearing loss worldwide. Development of a maternal vaccine or therapeutic to prevent congenital HCMV has bee ... Full text Open Access Link to item Cite

Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.

Journal Article Nat Genet · August 2022 To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. We re ... Full text Link to item Cite

Accelerated epigenetic aging in newborns with Down syndrome.

Journal Article Aging Cell · July 2022 Accelerated aging is a hallmark of Down syndrome (DS), with adults experiencing early-onset Alzheimer's disease and premature aging of the skin, hair, and immune and endocrine systems. Accelerated epigenetic aging has been found in the blood and brain tiss ... Full text Link to item Cite

SARS-CoV-2 vaccine acceptability among caregivers of childhood cancer survivors.

Journal Article Pediatr Blood Cancer · June 2022 OBJECTIVE: To explore willingness/hesitancy to vaccinate self and children against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) among caregivers of childhood cancer survivors (CCS). METHODS: A 19-question survey was sent to caregivers of CC ... Full text Link to item Cite

Congenital Human Cytomegalovirus Infection Is Associated With Decreased Transplacental IgG Transfer Efficiency Due to Maternal Hypergammaglobulinemia.

Journal Article Clin Infect Dis · April 9, 2022 BACKGROUND: Placentally transferred maternal immunoglobulin G (IgG) protects against pathogens in early life, yet vertically transmitted infections can interfere with transplacental IgG transfer. Although human cytomegalovirus (HCMV) is the most common pla ... Full text Open Access Link to item Cite

A pleiotropic ATM variant (rs1800057 C>G) is associated with risk of multiple cancers.

Journal Article Carcinogenesis · February 11, 2022 ATM (ataxia-telangiectasia mutated) is an important cell-cycle checkpoint kinase required for cellular response to DNA damage. Activated by DNA double strand breaks, ATM regulates the activities of many downstream proteins involved in various carcinogenic ... Full text Open Access Link to item Cite

Shared genomic architecture between COVID-19 severity and numerous clinical and physiologic parameters revealed by LD score regression analysis.

Journal Article Sci Rep · February 3, 2022 The COVID-19 pandemic has produced broad clinical manifestations, from asymptomatic infection to hospitalization and death. Despite progress from genomic and clinical epidemiology research, risk factors for developing severe COVID-19 are incompletely under ... Full text Link to item Cite

Insurance status as a mediator of clinical presentation, type of intervention, and short-term outcomes for patients with metastatic spine disease.

Journal Article Cancer Epidemiol · February 2022 BACKGROUND: It is well established that insurance status is a mediator of disease management, treatment course, and clinical outcomes in cancer patients. Our study assessed differences in clinical presentation, treatment course, mortality rates, and in-hos ... Full text Open Access Link to item Cite

Pleiotropic MLLT10 variation confers risk of meningioma and estrogen-mediated cancers.

Journal Article Neurooncol Adv · 2022 BACKGROUND: Risk of tumors of the breast, ovary, and meninges has been associated with hormonal factors and with one another. Genome-wide association studies (GWAS) identified a meningioma risk locus on 10p12 near previous GWAS hits for breast and ovarian ... Full text Open Access Link to item Cite

Mitochondrial 1555 G>A variant as a potential risk factor for childhood glioblastoma.

Journal Article Neurooncol Adv · 2022 BACKGROUND: Childhood glioblastoma multiforme (GBM) is a highly aggressive disease with low survival, and its etiology, especially concerning germline genetic risk, is poorly understood. Mitochondria play a key role in putative tumorigenic processes relati ... Full text Link to item Cite

A Modified Nucleoside 6-Thio-2'-Deoxyguanosine Exhibits Antitumor Activity in Gliomas.

Journal Article Clin Cancer Res · December 15, 2021 PURPOSE: To investigate the therapeutic role of a novel telomere-directed inhibitor, 6-thio-2'-deoxyguanosine (THIO) in gliomas both in vitro and in vivo. EXPERIMENTAL DESIGN: A panel of human and mouse glioma cell lines was used to test therapeutic effica ... Full text Link to item Cite

The shared genetic architecture between epidemiological and behavioral traits with lung cancer.

Journal Article Sci Rep · September 2, 2021 The complex polygenic nature of lung cancer is not fully characterized. Our study seeks to identify novel phenotypes associated with lung cancer using cross-trait linkage disequilibrium score regression (LDSR). We measured pairwise genetic correlation (rg) ... Full text Link to item Cite

Partitioned glioma heritability shows subtype-specific enrichment in immune cells.

Journal Article Neuro Oncol · August 2, 2021 BACKGROUND: Epidemiological studies of adult glioma have identified genetic syndromes and 25 heritable risk loci that modify individual risk for glioma, as well increased risk in association with exposure to ionizing radiation and decreased risk in associa ... Full text Link to item Cite

The Shared Genetic Architectures Between Lung Cancer and Multiple Polygenic Phenotypes in Genome-Wide Association Studies.

Journal Article Cancer Epidemiol Biomarkers Prev · June 2021 BACKGROUND: Prior genome-wide association studies have identified numerous lung cancer risk loci and reveal substantial etiologic heterogeneity across histologic subtypes. Analyzing the shared genetic architecture underlying variation in complex traits can ... Full text Link to item Cite

Impacts of COVID-19 on caregivers of childhood cancer survivors.

Journal Article Pediatr Blood Cancer · April 2021 PURPOSE: We sought to assess the impact of disruptions due to coronavirus disease 2019 (COVID-19) on caregivers of childhood cancer survivors. METHODS: A 13-question survey containing multiple-choice, Likert-type, and free-text questions on experiences, be ... Full text Link to item Cite

The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis.

Journal Article Nat Commun · February 5, 2021 Down syndrome is associated with genome-wide perturbation of gene expression, which may be mediated by epigenetic changes. We perform an epigenome-wide association study on neonatal bloodspots comparing 196 newborns with Down syndrome and 439 newborns with ... Full text Link to item Cite

Assisted reproductive technology and association with childhood cancer subtypes

Journal Article · 2021 ABSTRACTObjectives Use of assisted reproductive technology (ART) may alter the typical course of fetal development. We sought to investigate the association between ART use and childhood cancer subtype. Study design We surveyed ... Full text Cite

Opportunities, barriers, and recommendations in down syndrome research.

Journal Article Transl Sci Rare Dis · 2021 BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly under ... Full text Link to item Cite

Maternal Fc-mediated non-neutralizing antibody responses correlate with protection against congenital human cytomegalovirus infection

Journal Article · 2021 Human cytomegalovirus (HCMV) is the most common congenital infection and a leading cause of stillbirth, neurodevelopmental impairment, and pediatric hearing loss worldwide. Development of a maternal vaccine or therapeutic to prevent congenital infection ha ... Full text Open Access Cite

A Need for More Molecular Profiling in Brain Metastases.

Journal Article Front Oncol · 2021 As local disease control improves, the public health impact of brain metastases (BrM) continues to grow. Molecular features are frequently different between primary and metastatic tumors as a result of clonal evolution during neoplasm migration, selective ... Full text Link to item Cite

Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk.

Journal Article Cancer Med · December 2020 Because the cadherin-mediated signaling pathway promotes cancer progression, we assessed associations between genetic variants in 109 cadherin-related genes and risk of pancreatic cancer (PanC) by using genotyping data from publically available genome-wide ... Full text Open Access Link to item Cite

What is the Burden of Proof for Tumor Mutational Burden in gliomas?

Journal Article Neuro Oncol · November 30, 2020 The treatment of patients with a variety of solid tumors has benefitted from immune checkpoint inhibition targeting the anti-programmed cell death-1 (PD-1)/programmed cell death ligand-1 (PD-L1) axis. The US Food and Drug Administration (FDA) granted accel ... Full text Link to item Cite

European genetic ancestry associated with risk of childhood ependymoma.

Journal Article Neuro Oncol · November 26, 2020 BACKGROUND: Ependymoma is a histologically defined central nervous system tumor most commonly occurring in childhood. Population-level incidence differences by race/ethnicity are observed, with individuals of European ancestry at highest risk. We aimed to ... Full text Link to item Cite

The Paradoxical Effects of COVID-19 on Cancer Care: Current Context and Potential Lasting Impacts.

Journal Article Clin Cancer Res · November 15, 2020 Coronavirus disease 2019 (COVID-19) has fundamentally disrupted the practice of oncology, shifting care onto virtual platforms, rearranging the logistics and economics of running a successful clinical practice and research, and in some contexts, redefining ... Full text Link to item Cite

Frequent Mutations of POT1 Distinguish Pulmonary Sarcomatoid Carcinoma From Other Lung Cancer Histologies.

Journal Article Clin Lung Cancer · November 2020 INTRODUCTION: Pulmonary sarcomatoid carcinoma (PSC) is a rare subtype of non-small-cell lung cancer (NSCLC) harboring mutations in many canonical NSCLC-driver genes (eg, TP53, KRAS, MET). Protection of telomeres 1 (POT1) mutations are observed in angiosarc ... Full text Link to item Cite

Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma.

Journal Article Cancer Med · November 2020 BACKGROUND: Neuroblastoma is the most common pediatric solid tumor. MYCN-amplification is an important negative prognostic indicator and inherited genetic contributions to risk are incompletely understood. Genetic determinants of stature increase risk of s ... Full text Open Access Link to item Cite

Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma.

Journal Article Acta Neuropathol Commun · October 28, 2020 Ependymoma is the third most common brain tumor in children, with well-described molecular characterization but poorly understood underlying germline risk factors. To investigate whether genetic predisposition to longer telomere length influences ependymom ... Full text Link to item Cite

POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.

Journal Article J Med Genet · October 2020 BACKGROUND: The shelterin complex is composed of six proteins that protect and regulate telomere length, including protection of telomeres 1 (POT1). Germline POT1 mutations are associated with an autosomal dominant familial cancer syndrome presenting with ... Full text Link to item Cite

Cytomegalovirus as an immunomodulator across the lifespan.

Journal Article Curr Opin Virol · October 2020 Human cytomegalovirus (HCMV) is a nearly ubiquitous β-herpesvirus that establishes latent infection in the majority of the world's population. HCMV infection profoundly influences the host immune system and, perhaps more than any other human pathogen, has ... Full text Link to item Cite

Genetic variants of the peroxisome proliferator-activated receptor (PPAR) signaling pathway genes and risk of pancreatic cancer.

Journal Article Mol Carcinog · August 2020 Because the peroxisome proliferator-activated receptor (PPAR) signaling pathway is involved in development and progression of pancreatic cancer, we investigated associations between genetic variants of the PPAR pathway genes and pancreatic cancer risk by u ... Full text Open Access Link to item Cite

Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia.

Journal Article Cancer Epidemiol Biomarkers Prev · August 2020 BACKGROUND: Genome-wide association studies (GWAS) of childhood cancers remain limited, highlighting the need for novel analytic strategies. We describe a hybrid GWAS and phenome-wide association study (PheWAS) approach to uncover genotype-phenotype relati ... Full text Link to item Cite

Germline cancer predisposition variants and pediatric glioma: a population-based study in California.

Journal Article Neuro Oncol · June 9, 2020 BACKGROUND: Pediatric astrocytoma constitutes a majority of malignant pediatric brain tumors. Previous studies that investigated pediatric cancer predisposition have primarily been conducted in tertiary referral centers and focused on cancer predisposition ... Full text Link to item Cite

Telomere Attrition in Childhood Cancer Survivors.

Journal Article Clin Cancer Res · May 15, 2020 Childhood cancer survivors experience substantial treatment-related morbidity and biomarkers of long-term survivor health are needed. Leukocyte telomere length is shortened in childhood cancer survivors and associates with the occurrence of numerous chroni ... Full text Link to item Cite

Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia.

Journal Article Blood Adv · February 25, 2020 Rare and pathogenic germline variants, including in IKZF1, contribute to acute lymphoblastic leukemia in children with Down syndrome. ... Full text Link to item Cite

Common genetic variation and risk of osteosarcoma in a multi-ethnic pediatric and adolescent population.

Journal Article Bone · January 2020 Osteosarcoma, a malignant primary bone tumor most commonly diagnosed in children and adolescents, has a poorly understood genetic etiology. Genome-wide association studies (GWAS) and candidate-gene analyses have identified putative risk variants in subject ... Full text Link to item Cite

Epidemiology of meningiomas.

Chapter · 2020 More than 70,000 primary central nervous system tumors are diagnosed in the United States each year. Approximately 36% of these are meningiomas, making it the most common primary brain tumor. Because meningioma risk increases dramatically with age, the hea ... Full text Link to item Cite

Associations of novel variants in PIK3C3, INSR and MAP3K4 of the ATM pathway genes with pancreatic cancer risk.

Journal Article Am J Cancer Res · 2020 The ATM serine/threonine kinase (ATM) pathway plays important roles in pancreatic cancer (PanC) development and progression, but the roles of genetic variants of the genes in this pathway in the etiology of PanC are unknown. In the present study, we assess ... Open Access Link to item Cite

Pediatric glioma and medulloblastoma risk and population demographics: a Poisson regression analysis.

Journal Article Neurooncol Adv · 2020 BACKGROUND: The incidence of pediatric brain tumors varies by race and ethnicity, but these relationships may be confounded by socioeconomic status (SES). In this study, the Surveillance, Epidemiology, and End Results Program (SEER) database was evaluated ... Full text Link to item Cite

Germline genetic landscape of pediatric central nervous system tumors.

Journal Article Neuro Oncol · November 4, 2019 Central nervous system (CNS) tumors are the second most common type of cancer among children. Depending on histopathology, anatomic location, and genomic factors, specific subgroups of brain tumors have some of the highest cancer-related mortality rates or ... Full text Link to item Cite

Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome.

Journal Article Blood · October 10, 2019 Children with Down syndrome (DS) have a 20-fold increased risk of acute lymphoblastic leukemia (ALL) and distinct somatic features, including CRLF2 rearrangement in ∼50% of cases; however, the role of inherited genetic variation in DS-ALL susceptibility is ... Full text Link to item Cite

Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children.

Journal Article Genes Chromosomes Cancer · October 2019 High hyperdiploidy (HD) is the most common cytogenetic subtype of childhood acute lymphoblastic leukemia (ALL), and a higher incidence of HD has been reported in ALL patients with congenital cancer syndromes. We assessed the frequency of predisposing germl ... Full text Link to item Cite

Genetic variants in the liver kinase B1-AMP-activated protein kinase pathway genes and pancreatic cancer risk.

Journal Article Mol Carcinog · August 2019 The liver kinase B1-AMP-activated protein kinase (LKB1-AMPK) pathway has been identified as a new target for cancer therapy, because it controls the glucose and lipid metabolism in response to alterations in nutrients and intracellular energy levels. In th ... Full text Open Access Link to item Cite

Potential functional variants in SMC2 and TP53 in the AURORA pathway genes and risk of pancreatic cancer.

Journal Article Carcinogenesis · June 10, 2019 The AURORA pathway participates in mitosis and cell division, and alterations in mitosis and cell division can lead to carcinogenesis. Therefore, genetic variants in the AURORA pathway genes may be associated with susceptibility to pancreatic cancer. To te ... Full text Open Access Link to item Cite

Three novel genetic variants in NRF2 signaling pathway genes are associated with pancreatic cancer risk.

Journal Article Cancer Sci · June 2019 Pancreatic cancer (PanC) is one of the most lethal solid malignancies, and metastatic PanC is often present at the time of diagnosis. Although several high- and low-penetrance genes have been implicated in PanC, their roles in carcinogenesis remain only pa ... Full text Open Access Link to item Cite

Mendelian randomization provides support for obesity as a risk factor for meningioma.

Journal Article Sci Rep · January 22, 2019 Little is known about the causes of meningioma. Obesity and obesity-related traits have been reported in several epidemiological observational studies to be risk factors for meningioma. We performed an analysis of genetic variants associated with obesity-r ... Full text Link to item Cite

BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia.

Journal Article Int J Cancer · December 1, 2018 Genome-wide association studies of childhood acute lymphoblastic leukemia (ALL) have identified regions of association at PIP4K2A and upstream of BMI1 at chromosome 10p12.31-12.2. The contribution of both loci to ALL risk and underlying functional variants ... Full text Link to item Cite

Genome-wide association analysis identifies a meningioma risk locus at 11p15.5.

Journal Article Neuro Oncol · October 9, 2018 BACKGROUND: Meningiomas are adult brain tumors originating in the meningeal coverings of the brain and spinal cord, with significant heritable basis. Genome-wide association studies (GWAS) have previously identified only a single risk locus for meningioma, ... Full text Link to item Cite

Two HLA Class II Gene Variants Are Independently Associated with Pediatric Osteosarcoma Risk.

Journal Article Cancer Epidemiol Biomarkers Prev · October 2018 Background: The genetic etiology of osteosarcoma remains poorly understood despite the publication of a genome-wide association study. Association between HLA genetic variants and risk of several cancers has been observed, but HLA variation is not well cap ... Full text Link to item Cite

Genetic determinants of childhood and adult height associated with osteosarcoma risk.

Journal Article Cancer · September 15, 2018 BACKGROUND: Although increased height has been associated with osteosarcoma risk in previous epidemiologic studies, to the authors' knowledge the relative contribution of stature during different developmental timepoints remains unclear. Furthermore, the q ... Full text Open Access Link to item Cite

Disruption of the β1L Isoform of GABP Reverses Glioblastoma Replicative Immortality in a TERT Promoter Mutation-Dependent Manner.

Journal Article Cancer Cell · September 10, 2018 TERT promoter mutations reactivate telomerase, allowing for indefinite telomere maintenance and enabling cellular immortalization. These mutations specifically recruit the multimeric ETS factor GABP, which can form two functionally independent transcriptio ... Full text Link to item Cite

Epidemiology of Brain Tumors.

Chapter · August 2018 Incidence, prevalence, and survival for brain tumors varies by histologic type, age at diagnosis, sex, and race/ethnicity. Significant progress has been made in identifying potential risk factors for brain tumors, although more research is warranted. The s ... Full text Link to item Cite

Genomic characterization of chronic lymphocytic leukemia (CLL) in radiation-exposed Chornobyl cleanup workers.

Journal Article Environ Health · May 2, 2018 BACKGROUND: Chronic lymphocytic leukemia (CLL) was the predominant leukemia in a recent study of Chornobyl cleanup workers from Ukraine exposed to radiation (UR-CLL). Radiation risks of CLL significantly increased with increasing bone marrow radiation dose ... Full text Link to item Cite

Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas.

Journal Article Neuro Oncol · April 9, 2018 BACKGROUND: Rare multicentric lower-grade gliomas (LGGs) represent a unique opportunity to study the heterogeneity among distinct tumor foci in a single patient and to infer their origins and parallel patterns of evolution. METHODS: In this study, we integ ... Full text Link to item Cite

GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.

Journal Article Nat Commun · January 18, 2018 Childhood acute lymphoblastic leukemia (ALL) (age 0-14 years) is 20% more common in Latino Americans than non-Latino whites. We conduct a genome-wide association study in a large sample of 3263 Californian children with ALL (including 1949 of Latino herita ... Full text Link to item Cite

To ERV Is Human: A Phenotype-Wide Scan Linking Polymorphic Human Endogenous Retrovirus-K Insertions to Complex Phenotypes.

Journal Article Front Genet · 2018 Approximately 8% of the human genome is comprised of endogenous retroviral insertions (ERVs) originating from historic retroviral integration into germ cells. The function of ERVs as regulators of gene expression is well established. Less well studied are ... Full text Link to item Cite

Non-additive and epistatic effects of HLA polymorphisms contributing to risk of adult glioma.

Journal Article J Neurooncol · November 2017 Although genome-wide association studies have identified several susceptibility loci for adult glioma, little is known regarding the potential contribution of genetic variation in the human leukocyte antigen (HLA) region to glioma risk. HLA associations ha ... Full text Link to item Cite

Buccal mucosa micronuclei counts in relation to exposure to low dose-rate radiation from the Chornobyl nuclear accident and other medical and occupational radiation exposures.

Journal Article Environ Health · June 23, 2017 BACKGROUND: Ionizing radiation is a well-known carcinogen. Chromosome aberrations, and in particular micronuclei represent an early biological predictor of cancer risk. There are well-documented associations of micronuclei with ionizing radiation dose in s ... Full text Link to item Cite

Perinatal factors associated with clinical presentation of osteosarcoma in children and adolescents.

Journal Article Pediatr Blood Cancer · June 2017 BACKGROUND: Osteosarcoma typically develops during puberty with tumors arising at sites of rapid bone growth, suggesting a role for growth-regulating pathways in tumor etiology. Birthweight is one measure of perinatal growth that has been investigated as a ... Full text Link to item Cite

Adult infiltrating gliomas with WHO 2016 integrated diagnosis: additional prognostic roles of ATRX and TERT.

Journal Article Acta Neuropathol · June 2017 The "integrated diagnosis" for infiltrating gliomas in the 2016 revised World Health Organization (WHO) classification of tumors of the central nervous system requires assessment of the tumor for IDH mutations and 1p/19q codeletion. Since TERT promoter mut ... Full text Link to item Cite

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.

Journal Article JAMA Oncol · May 1, 2017 IMPORTANCE: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. OBJECTIVE: ... Full text Link to item Cite

Correlates of Prenatal and Early-Life Tobacco Smoke Exposure and Frequency of Common Gene Deletions in Childhood Acute Lymphoblastic Leukemia.

Journal Article Cancer Res · April 1, 2017 Tobacco smoke exposure has been associated with risk of childhood acute lymphoblastic leukemia (ALL). Understanding the relationship between tobacco exposures and specific mutations may yield etiologic insights. We carried out a case-only analysis to explo ... Full text Link to item Cite

In utero cytomegalovirus infection and development of childhood acute lymphoblastic leukemia.

Journal Article Blood · March 23, 2017 It is widely suspected, yet controversial, that infection plays an etiologic role in the development of acute lymphoblastic leukemia (ALL), the most common childhood cancer and a disease with a confirmed prenatal origin in most cases. We investigated infec ... Full text Link to item Cite

Mutant IDH1 Expression Drives TERT Promoter Reactivation as Part of the Cellular Transformation Process.

Journal Article Cancer Res · November 15, 2016 Mutations in the isocitrate dehydrogenase gene IDH1 are common in low-grade glioma, where they result in the production of 2-hydroxyglutarate (2HG), disrupted patterns of histone methylation, and gliomagenesis. IDH1 mutations also cosegregate with mutation ... Full text Link to item Cite

Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.

Journal Article Oncotarget · November 8, 2016 High hyperdiploidy (HD), the most common cytogenetic subtype of B-cell acute lymphoblastic leukemia (B-ALL), is largely curable but significant treatment-related morbidity warrants investigating the biology and identifying novel drug targets. Targeted deep ... Full text Open Access Link to item Cite

Genetic contribution to variation in DNA methylation at maternal smoking-sensitive loci in exposed neonates.

Journal Article Epigenetics · September 2016 Epigenome-wide DNA methylation association studies have identified highly replicable genomic loci sensitive to maternal smoking during gestation. The role of inter-individual genetic variation in influencing DNA methylation, leading to the possibility of c ... Full text Link to item Cite

Genetic Variation Associated with Longer Telomere Length Increases Risk of Chronic Lymphocytic Leukemia.

Journal Article Cancer Epidemiol Biomarkers Prev · July 2016 BACKGROUND: Chronic lymphocytic leukemia (CLL) is the most common leukemia in the Western world. Shorter mean telomere length in leukemic cells has been associated with more aggressive disease. Germline polymorphisms in telomere maintenance genes affect te ... Full text Link to item Cite

Epidemiology

Chapter · June 3, 2016 More than 250 000 new cases of primary malignant brain tumors are diagnosed annually worldwide, 77% of which are gliomas. A small proportion of gliomas are caused by the inheritance of rare high-penetrance genetic variants or high-dose radiation. Since 200 ... Link to item Cite

Common genetic variants associated with telomere length confer risk for neuroblastoma and other childhood cancers.

Journal Article Carcinogenesis · June 2016 Featured Publication Aberrant telomere lengthening is an important feature of cancer cells in adults and children. In addition to somatic mutations, germline polymorphisms in telomere maintenance genes impact telomere length. Whether these telomere-associated polymorphisms aff ... Full text Link to item Cite

Understanding inherited genetic risk of adult glioma - a review.

Journal Article Neurooncol Pract · March 2016 During the past six years, researchers have made major progress identifying common inherited genetic variation that increases risk for primary adult glioma. This paper summarizes knowledge about rare familial cancer syndromes that include adult glioma and ... Full text Link to item Cite

Gene by Environment Investigation of Incident Lung Cancer Risk in African-Americans.

Journal Article EBioMedicine · February 2016 BACKGROUND: Genome-wide association studies have identified polymorphisms linked to both smoking exposure and risk of lung cancer. The degree to which lung cancer risk is driven by increased smoking, genetics, or gene-environment interactions is not well u ... Full text Open Access Link to item Cite

Longer genotypically-estimated leukocyte telomere length is associated with increased adult glioma risk.

Journal Article Oncotarget · December 15, 2015 Telomere maintenance has emerged as an important molecular feature with impacts on adult glioma susceptibility and prognosis. Whether longer or shorter leukocyte telomere length (LTL) is associated with glioma risk remains elusive and is often confounded b ... Full text Link to item Cite

A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution.

Journal Article Cancer Res · November 15, 2015 Featured Publication Genome-wide association studies (GWAS) have identified SNPs in six genes that are associated with childhood acute lymphoblastic leukemia (ALL). A lead SNP was found to occur on chromosome 9p21.3, a region that is deleted in 30% of childhood ALLs, suggestin ... Full text Link to item Cite

Telomere maintenance and the etiology of adult glioma.

Journal Article Neuro Oncol · November 2015 Featured Publication A growing body of epidemiologic and tumor genomic research has identified an important role for telomere maintenance in glioma susceptibility, initiation, and prognosis. Telomere length has long been investigated in relation to cancer, but whether longer o ... Full text Link to item Cite

Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors.

Journal Article N Engl J Med · June 25, 2015 Featured Publication BACKGROUND: The prediction of clinical behavior, response to therapy, and outcome of infiltrative glioma is challenging. On the basis of previous studies of tumor biology, we defined five glioma molecular groups with the use of three alterations: mutations ... Full text Link to item Cite

Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer.

Journal Article Science · May 29, 2015 Reactivation of telomerase reverse transcriptase (TERT) expression enables cells to overcome replicative senescence and escape apoptosis, which are fundamental steps in the initiation of human cancer. Multiple cancer types, including up to 83% of glioblast ... Full text Link to item Cite

CDKN2A loss is associated with shortened overall survival in lower-grade (World Health Organization Grades II-III) astrocytomas.

Journal Article J Neuropathol Exp Neurol · May 2015 Lower-grade (World Health Organization Grades II and III) gliomas vary widely in clinical behavior and are classified as astrocytic, oligodendroglial, or mixed. Anaplasia depends greatly on mitotic activity, with CDKN2A loss considered as the most common m ... Full text Link to item Cite

Association of genetic variation in IKZF1, ARID5B, and CEBPE and surrogates for early-life infections with the risk of acute lymphoblastic leukemia in Hispanic children.

Journal Article Cancer Causes Control · April 2015 BACKGROUND: Genome-wide association studies focusing on European-ancestry populations have identified ALL risk loci on IKZF1, ARID5B, and CEBPE. To capture the impacts of these genes on ALL risk in the California Hispanic population, we comprehensively ass ... Full text Link to item Cite

Germline mutations in shelterin complex genes are associated with familial glioma.

Journal Article J Natl Cancer Inst · January 2015 Gliomas are the most common brain tumor, with several histological subtypes of various malignancy grade. The genetic contribution to familial glioma is not well understood. Using whole exome sequencing of 90 individuals from 55 families, we identified two ... Full text Link to item Cite

Survival and low-grade glioma: the emergence of genetic information.

Journal Article Neurosurg Focus · January 2015 Significant gaps exist in our understanding of the causes and clinical management of glioma. One of the biggest gaps is how best to manage low-grade (World Health Organization [WHO] Grade II) glioma. Low-grade glioma (LGG) is a uniformly fatal disease of y ... Full text Link to item Cite

Somatic Mutation Allelic Ratio Test Using ddPCR (SMART-ddPCR): An Accurate Method for Assessment of Preferential Allelic Imbalance in Tumor DNA.

Journal Article PLoS One · 2015 The extent to which heritable genetic variants can affect tumor development has yet to be fully elucidated. Tumor selection of single nucleotide polymorphism (SNP) risk alleles, a phenomenon called preferential allelic imbalance (PAI), has been demonstrate ... Full text Link to item Cite

Familial gliomas: cases in two pairs of brothers.

Journal Article J Neurooncol · January 2015 The majority of gliomas are sporadic in origin. Familial gliomas have been reported, though they are exceptionally rare. Several familial cancer syndromes are associated with autosomal dominant glioma risk, typically with incomplete penetrance. When two si ... Full text Link to item Cite

Opportunities-and hard work-ahead.

Journal Article J Natl Cancer Inst · January 2015 Full text Link to item Cite

Epidemiology

Chapter · August 1, 2014 Neuro-Oncology: The Essentials, Third Edition, is a comprehensive introduction to the fundamental science and core clinical concepts behind the successful multidisciplinary management of patients with brain and spine tumors. ... Cite

The epidemiology of glioma in adults: a "state of the science" review.

Journal Article Neuro Oncol · July 2014 Gliomas are the most common primary intracranial tumor, representing 81% of malignant brain tumors. Although relatively rare, they cause significant mortality and morbidity. Glioblastoma, the most common glioma histology (∼45% of all gliomas), has a 5-year ... Full text Link to item Cite

Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.

Journal Article Nat Genet · July 2014 Featured Publication Glioma, the most common central nervous system cancer in adults, has poor prognosis. Here we identify a new SNP associated with glioma risk, rs1920116 (near TERC), that reached genome-wide significance (Pcombined = 8.3 × 10(-9)) in a meta-analysis of genom ... Full text Link to item Cite

Genomic ancestry and somatic alterations correlate with age at diagnosis in Hispanic children with B-cell acute lymphoblastic leukemia.

Journal Article Am J Hematol · July 2014 Hispanic children have a higher incidence of acute lymphoblastic leukemia (ALL) than non-Hispanic whites but tend to be diagnosed at older ages. In genome-wide association studies, Native American ancestry and polymorphisms in six genes have been associate ... Full text Link to item Cite

The role of KIR genes and their cognate HLA class I ligands in childhood acute lymphoblastic leukemia.

Journal Article Blood · April 17, 2014 Killer cell immunoglobulin-like receptors (KIRs), via interaction with their cognate HLA class I ligands, play a crucial role in the development and activity of natural killer cells. Following recent reports of KIR gene associations in childhood acute lymp ... Full text Link to item Cite

Central Nervous System Tumors

Chapter · November 7, 2013 Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. ... Cite

Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.

Journal Article Neuro Oncol · August 2013 BACKGROUND: Genome-wide association studies have implicated single nucleotide polymorphisms (SNPs) in 7 genes as glioma risk factors, including 2 (TERT, RTEL1) involved in telomerase structure/function. We examined associations of these 7 established gliom ... Full text Link to item Cite

Inherited variant on chromosome 11q23 increases susceptibility to IDH-mutated but not IDH-normal gliomas regardless of grade or histology.

Journal Article Neuro Oncol · May 2013 INTRODUCTION: Recent discoveries of inherited glioma risk loci and acquired IDH mutations are providing new insights into glioma etiology. IDH mutations are common in lower grade gliomas and secondary glioblastomas and uncommon in primary glioblastomas. Be ... Full text Link to item Cite

Analysis of 60 reported glioma risk SNPs replicates published GWAS findings but fails to replicate associations from published candidate-gene studies.

Journal Article Genet Epidemiol · February 2013 Genomewide association studies (GWAS) and candidate-gene studies have implicated single-nucleotide polymorphisms (SNPs) in at least 45 different genes as putative glioma risk factors. Attempts to validate these associations have yielded variable results an ... Full text Link to item Cite

Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans.

Journal Article Cancer Epidemiol Biomarkers Prev · February 2013 BACKGROUND: Genome-wide association studies of European and East Asian populations have identified lung cancer susceptibility loci on chromosomes 5p15.33, 6p22.1-p21.31, and 15q25.1. We investigated whether these regions contain lung cancer susceptibly loc ... Full text Link to item Cite

Association study of nicotinic acetylcholine receptor genes identifies a novel lung cancer susceptibility locus near CHRNA1 in African-Americans.

Journal Article Oncotarget · November 2012 Studies in European and East Asian populations have identified lung cancer susceptibility loci in nicotinic acetylcholine receptor (nAChR) genes on chromosome 15q25.1 which also appear to influence smoking behaviors. We sought to determine if genetic varia ... Full text Link to item Cite

Whole-exome sequencing of a pedigree segregating asthma.

Journal Article BMC Med Genet · October 9, 2012 BACKGROUND: Despite the success of genome-wide association studies for asthma, few, if any, definitively causal variants have been identified and there is still a substantial portion of the heritability of the disease yet to be discovered. Some of this "mi ... Full text Link to item Cite

A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation.

Journal Article Nat Genet · October 2012 Variants at 8q24.21 have been shown to be associated with glioma development. By means of tag SNP genotyping and imputation, pooled next-generation sequencing using long-range PCR and subsequent validation SNP genotyping, we identified seven low-frequency ... Full text Link to item Cite

Decreased use of non-steroidal anti-inflammatory drugs for the treatment of juvenile idiopathic arthritis in the era of modern aggressive treatment.

Journal Article Rheumatol Int · October 2012 We examined whether the use of non-steroidal anti-inflammatory drugs has decreased for the treatment of juvenile idiopathic arthritis in a cohort treated with aggressive modern therapy as well as potential factors influencing their use. We randomly sampled ... Full text Link to item Cite

Cigarette smoking associated with lung adenocarcinoma in situ in a large case-control study (SFBALCS).

Journal Article J Thorac Oncol · September 2012 INTRODUCTION: Adenocarcinoma in situ (AIS), formerly bronchioloalveolar carcinoma, is an uncommon subtype of lung adenocarcinoma and accounts for approximately 3% to 4% of lung cancers. Compared with other lung cancer histologies, AIS patients are less lik ... Full text Link to item Cite

Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients.

Journal Article BMC Pregnancy Childbirth · June 29, 2012 BACKGROUND: Specific genetic contributions for preeclampsia (PE) are currently unknown. This genome-wide association study (GWAS) aims to identify maternal single nucleotide polymorphisms (SNPs) and copy-number variants (CNVs) involved in the etiology of P ... Full text Link to item Cite

Cigarette smoking and risk of meningioma: the effect of gender.

Journal Article Cancer Epidemiol Biomarkers Prev · June 2012 BACKGROUND: A number of studies have reported on the association between smoking and meningioma risk, with inconsistent findings. We examined the effect of gender on the association between cigarette smoking and risk of intracranial meningioma in a large p ... Full text Link to item Cite

Leveraging ethnic group incidence variation to investigate genetic susceptibility to glioma: a novel candidate SNP approach.

Journal Article Front Genet · 2012 OBJECTIVES: Using a novel candidate SNP approach, we aimed to identify a possible genetic basis for the higher glioma incidence in Whites relative to East Asians and African-Americans. METHODS:   We hypothesized that genetic regions containing SNPs with ex ... Full text Link to item Cite

Genetic signatures of exceptional longevity in humans.

Journal Article PLoS One · 2012 Like most complex phenotypes, exceptional longevity is thought to reflect a combined influence of environmental (e.g., lifestyle choices, where we live) and genetic factors. To explore the genetic contribution, we undertook a genome-wide association study ... Full text Link to item Cite

Disease risk prediction with rare and common variants.

Journal Article BMC Proc · November 29, 2011 A number of studies have been conducted to investigate the predictive value of common genetic variants for complex diseases. To date, these studies have generally shown that common variants have no appreciable added predictive value over classical risk fac ... Full text Link to item Cite

Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis.

Journal Article Genet Med · May 2011 PURPOSE: Autism is one of the most heritable complex disorders, but the genetic etiology of autism spectrum disorders is unexplained in ∼ 90% of cases. Highly penetrant microdeletions and microduplications of 16p11.2 contribute to the pathogenesis of autis ... Full text Link to item Cite

A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.

Journal Article Endocr Relat Cancer · February 2011 Genetic studies of midgut carcinoid cancer have exclusively focused on genomic changes of the tumor cells. We investigated the role of constitutional genetic polymorphisms in predisposing individuals to ileal carcinoids. In all, 239 cases and 110 controls ... Full text Link to item Cite

Attempted replication of 50 reported asthma risk genes identifies a SNP in RAD50 as associated with childhood atopic asthma.

Journal Article Hum Hered · 2011 OBJECTIVES: Asthma is a childhood disease that is strongly influenced by genetic factors. We sought to replicate an association between single nucleotide polymorphisms (SNPs) of the top-ranked candidate genes and childhood atopic asthma in Perinatal Risk o ... Full text Link to item Cite

Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism.

Journal Article Mutat Res · August 7, 2010 Asthma is a chronic inflammatory disease of the lungs which affects more than 6.5 million American children. A family-based genome-wide association study of copy-number variation identified an association between decreased copy-number at TCRgamma and child ... Full text Link to item Cite

Origins and prevalence of the American Founder Mutation of MSH2.

Journal Article Cancer Res · April 1, 2008 Large germline deletions within the mismatch repair gene MSH2 account for a significant proportion (up to 20%) of all deleterious mutations of this gene which are associated with Lynch syndrome. An exons 1 to 6 deletion of MSH2, originally reported in nine ... Full text Link to item Cite

Epidemiology

Chapter · January 1, 2007 Full text Cite