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Joellen Martha Schildkraut

Professor Emeritus in Family Medicine and Community Health
Family Medicine and Community Health, Prevention Research
Box 2715 Med Ctr, Durham, NC 27705
6036 Hock Plaza, 2424 Erwin Road, Durham, NC 27705

Featured Works


Variation at 8q24 and 9p24 and risk of epithelial ovarian cancer.

Journal article Twin Res Hum Genet · February 2010 Featured Publication The chromosome 8q24 region (specifically, 8q24.21.a) is known to harbor variants associated with risk of breast, colorectal, prostate, and bladder cancers. In 2008, variants rs10505477 and rs6983267 in this region were associated with increased risk of inv ... Full text Link to item Cite

Polymorphism in the GALNT1 gene and epithelial ovarian cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium.

Journal article Cancer Epidemiol Biomarkers Prev · February 2010 Featured Publication Aberrant glycosylation is a well-described hallmark of cancer. In a previous ovarian cancer case control study that examined polymorphisms in 26 glycosylation-associated genes, we found strong statistical evidence (P = 0.00017) that women who inherited two ... Full text Link to item Cite

Inherited determinants of ovarian cancer survival.

Journal article Clin Cancer Res · February 1, 2010 Featured Publication PURPOSE: Due to variation of outcome among cases, we sought to examine whether overall survival in ovarian cancer was associated with common inherited variants in 227 candidate genes from ovarian cancer-related pathways including angiogenesis, inflammation ... Full text Link to item Cite

Risk of ovarian cancer and inherited variants in relapse-associated genes.

Journal article PLoS One · January 27, 2010 Featured Publication BACKGROUND: We previously identified a panel of genes associated with outcome of ovarian cancer. The purpose of the current study was to assess whether variants in these genes correlated with ovarian cancer risk. METHODS AND FINDINGS: Women with and withou ... Full text Open Access Link to item Cite

ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: an Ovarian Cancer Association Consortium study.

Journal article Cancer Epidemiol Biomarkers Prev · January 2010 Featured Publication We genotyped 13 single nucleotide polymorphisms (SNPs) in the estrogen receptor alpha gene (ESR1) region in three population-based case-control studies of epithelial ovarian cancer conducted in the United States, comprising a total of 1,128 and 1,866 non-H ... Full text Link to item Cite

IGF2R polymorphisms and risk of esophageal and gastric adenocarcinomas.

Journal article Int J Cancer · December 1, 2009 Featured Publication The mannose-6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) encodes a protein that plays a critical role in tumor suppression, in part by modulating bioavailability of a potent mitogen, insulin-like growth factor-2 (IGF2). We tested the hypot ... Full text Link to item Cite

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

Journal article Nat Genet · September 2009 Featured Publication Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We ... Full text Link to item Cite

Ovarian cancer risk factors in African-American and white women.

Journal article Am J Epidemiol · September 1, 2009 Featured Publication Ovarian cancer is the most lethal gynecologic malignancy in both African-American and white women. Although prevalences of many ovarian cancer risk factors differ markedly between African Americans and whites, there has been little research on how the rela ... Full text Link to item Cite

Polymorphisms in TCEAL7 and risk of epithelial ovarian cancer.

Journal article Gynecol Oncol · August 2009 Featured Publication OBJECTIVE: We have previously shown that TCEAL7 (transcription elongation factor A (SII)-like 7) is epigenetically down-regulated in the majority of epithelial ovarian cancers. We now examine the hypothesis that inherited alterations in TCEAL7 play a role ... Full text Link to item Cite

Predictors of variation in serum IGF1 and IGFBP3 levels in healthy African American and white men.

Journal article J Natl Med Assoc · July 2009 Featured Publication BACKGROUND: Individual variation in circulating insulinlike growth factor-1 (IGF1) and its major binding protein, insulinlike growth factor binding protein-3 (IGFBP3), have been etiologically linked to several chronic diseases, including some cancers. Fact ... Full text Link to item Cite

Association between common germline genetic variation in 94 candidate genes or regions and risks of invasive epithelial ovarian cancer.

Journal article PLoS One · June 19, 2009 Featured Publication BACKGROUND: Recent studies have identified several single nucleotide polymorphisms (SNPs) in the population that are associated with variations in the risks of many different diseases including cancers such as breast, prostate and colorectal. For ovarian c ... Full text Link to item Cite

Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.

Journal article Hum Mol Genet · June 15, 2009 Featured Publication Because both ovarian and breast cancer are hormone-related and are known to have some predisposition genes in common, we evaluated 11 of the most significant hits (six with confirmed associations with breast cancer) from the breast cancer genome-wide assoc ... Full text Link to item Cite

Polymorphisms in NF-kappaB inhibitors and risk of epithelial ovarian cancer.

Journal article BMC Cancer · June 6, 2009 Featured Publication BACKGROUND: The nuclear factor-kappaB (NF-kappaB) family is a set of transcription factors with key roles in the induction of the inflammatory response and may be the link between inflammation and cancer development. This pathway has been shown to influenc ... Full text Link to item Cite

A prospective study of weight gain after premenopausal hysterectomy.

Journal article J Womens Health (Larchmt) · May 2009 Featured Publication PURPOSE: Many women who have had hysterectomies have the perception that they gained weight after surgery that cannot be attributed to changes in diet or physical activity. The purpose of this analysis was to assess weight gain in premenopausal women in th ... Full text Link to item Cite

Role of genetic polymorphisms and ovarian cancer susceptibility.

Journal article Mol Oncol · April 2009 Featured Publication The value of identifying women with an inherited predisposition to epithelial ovarian cancer has become readily apparent with the identification of the BRCA1, and BRCA2 genes. Women who inherit a deleterious mutation in either of these genes have a very hi ... Full text Link to item Cite

Association between glioma and history of allergies, asthma, and eczema: a case-control study with three groups of controls.

Journal article Cancer Epidemiol Biomarkers Prev · April 2009 Featured Publication Because glioma etiology is largely unknown, the inverse association of glioma risk with atopic conditions is promising and deserves close scrutiny. We examined the association between a history of allergies, asthma, and eczema, and glioma risk using siblin ... Full text Link to item Cite

Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer.

Journal article Cancer Res · March 15, 2009 Featured Publication The p53 protein is critical for multiple cellular functions including cell growth and DNA repair. We assessed whether polymorphisms in the region encoding TP53 were associated with risk of invasive ovarian cancer. The study population includes a total of 5 ... Full text Link to item Cite

Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.

Journal article Cancer Epidemiol Biomarkers Prev · March 2009 Featured Publication Polymorphisms in genes critical to cell cycle control are outstanding candidates for association with ovarian cancer risk; numerous genes have been interrogated by multiple research groups using differing tagging single-nucleotide polymorphism (SNP) sets. ... Full text Link to item Cite

Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.

Journal article Br J Cancer · January 27, 2009 Featured Publication The search for genetic variants associated with ovarian cancer risk has focused on pathways including sex steroid hormones, DNA repair, and cell cycle control. The Ovarian Cancer Association Consortium (OCAC) identified 10 single-nucleotide polymorphisms ( ... Full text Link to item Cite

Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.

Journal article Cancer Epidemiol Biomarkers Prev · December 2008 Featured Publication Over 22,000 cases of ovarian cancer were diagnosed in 2007 in the United States, but only a fraction of them can be attributed to mutations in highly penetrant genes such as BRCA1. To determine whether low-penetrance genetic variants contribute to ovarian ... Full text Link to item Cite

Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis.

Journal article Cancer Res · November 1, 2008 Featured Publication Present investigations suggest that approximately 30% of colorectal cancer cases arise on the basis of inherited factors. We hypothesize that the majority of inherited factors are moderately penetrant genes, common in the population. We use an affected sib ... Full text Link to item Cite

Flexible Frames and Control Sampling in Case-Control Studies: Weighters (Survey Statisticians) Versus Anti-Weighters (Epidemiologists).

Journal article Am Stat · November 1, 2008 Featured Publication We propose two innovations in statistical sampling for controls to enable better design of population-based case-control studies. The main innovation leads to novel solutions, without using weights, of the difficult and long-standing problem of selecting a ... Full text Link to item Cite

Consortium analysis of 7 candidate SNPs for ovarian cancer.

Journal article Int J Cancer · July 15, 2008 Featured Publication The Ovarian Cancer Association Consortium selected 7 candidate single nucleotide polymorphisms (SNPs), for which there is evidence from previous studies of an association with variation in ovarian cancer or breast cancer risks. The SNPs selected for analys ... Full text Link to item Cite

Performance of amplified DNA in an Illumina GoldenGate BeadArray assay.

Journal article Cancer Epidemiol Biomarkers Prev · July 2008 Featured Publication Whole genome amplification (WGA) offers a means to enrich DNA quantities for epidemiologic studies. We used an ovarian cancer study of 1,536 single nucleotide polymorphisms (SNPs) and 2,368 samples to assess performance of multiple displacement amplificati ... Full text Link to item Cite

Hormonal risk factors for ovarian cancer in premenopausal and postmenopausal women.

Journal article Am J Epidemiol · May 1, 2008 Featured Publication Ovarian cancer is most frequently diagnosed in postmenopausal women; however, the strongest risk predictors, pregnancy and oral contraceptive use, occur in most women in their twenties and thirties. Relatively few studies have examined how reproductive ris ... Full text Link to item Cite

Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.

Journal article Cancer Res · April 1, 2008 Featured Publication Dysfunction in enzymes involved in one-carbon (1-C) metabolism can lead to increased chromosomal strand breaking and abnormal methylation patterns, which are both associated with cancer risk. Availability of 1-C units may modify risk. We investigated the a ... Full text Link to item Cite

Cyclin E overexpression in epithelial ovarian cancer characterizes an etiologic subgroup.

Journal article Cancer Epidemiol Biomarkers Prev · March 2008 Featured Publication BACKGROUND: The objective of this study was to determine whether cyclin E overexpression defines an etiologically distinct subgroup of ovarian cancer. METHODS: We analyzed data from 538 epithelial ovarian cancer cases and 629 controls enrolled in a populat ... Full text Link to item Cite

Association of single nucleotide polymorphisms in glycosylation genes with risk of epithelial ovarian cancer.

Journal article Cancer Epidemiol Biomarkers Prev · February 2008 Featured Publication Studies suggest that underglycosylation of the cell membrane mucin MUC1 may be associated with epithelial ovarian cancer. We identified 26 genes involved in glycosylation and examined 93 single nucleotide polymorphisms (SNP) with a minor allele frequency o ... Full text Link to item Cite

Factors associated with African Americans' enrollment in a national cancer genetics registry.

Journal article Community Genet · 2008 Featured Publication This study explored whether reactions to the Cancer Genetics Network (CGN) or CGN enrollment differed by receipt of a standard informational brochure versus a targeted version addressing factors previously associated with African Americans' health behavior ... Full text Link to item Cite