Neoplastic Syndromes, Hereditary

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  Subject Areas on Research

  • A locus for cerebral cavernous malformations maps to chromosome 7q in two families. 
  • ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. 
  • ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. 
  • Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations. 
  • Acute myelogenous leukemia associated with Ollier disease. 
  • BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor. 
  • BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis. 
  • Basic population and cancer genetics and their use in the assessment of cancer risk. 
  • Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis. 
  • Familial breast-ovarian cancer syndromes: BRCA1 and BRCA2. 
  • Genetic analysis of a family with hereditary glomuvenous malformations. 
  • Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. 
  • Genetic testing and tumor surveillance for children with cancer predisposition syndromes. 
  • Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015. 
  • Germline genetic variants in men with prostate cancer and one or more additional cancers. 
  • Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. 
  • High-resolution mapping of heteroduplex DNA formed during UV-induced and spontaneous mitotic recombination events in yeast. 
  • Integration of molecular diagnostics with therapeutics: implications for drug discovery and patient care. 
  • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. 
  • POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families. 
  • Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial. 
  • Salivary levels of angiopoietin-2 in infants with infantile haemangiomas treated with and without systemic propranolol. 
  • Solid tumor second primary neoplasms: who is at risk, what can we do? 
  • T cell-inflamed phenotype and increased Foxp3 expression in infiltrating T-cells of mismatch-repair deficient endometrial cancers. 
  • The Current Molecular Treatment Landscape of Advanced Colorectal Cancer and Need for the COLOMATE Platform. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology