ArticlesGermline BRCA1 185delAG mutations in Jewish women with breast cancer
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Cited by (137)
Disparities in Breast Cancer Outcomes and How to Resolve Them
2023, Hematology/Oncology Clinics of North AmericaCitation Excerpt :It is estimated that 5% to 10% of breast cancers present in individuals with familial inheritance of susceptibility.27 Most are autosomal dominant and highly penetrant.28 Patients with these mutations are often younger at diagnosis and have a higher grade, more aggressive disease.
Germline Testing for Individuals with Pancreatic Adenocarcinoma and Novel Genetic Risk Factors
2022, Hematology/Oncology Clinics of North AmericaCitation Excerpt :BRCA2 mutations are the single most common germline genetic finding in patients with PDAC, contributing to 10% to 20% of all PDAC cases in familial PDAC21–24 and to 1% to 8% of unselected PDAC cases.2,3,25,26 The population-based prevalence of BRCA1 or BRCA2 mutations is estimated around 1 in 400,27 although founder mutations lead to a higher prevalence in some populations such as the Ashkenazi Jews.28 The relative risk of PDAC ranges from 3- to 6-fold in BRCA2 mutation carriers with a lifetime risk estimated at 4% to 8%.20,29
Disparities in Breast Cancer
2022, Obstetrics and Gynecology Clinics of North AmericaRisk Factors as Biomarkers of Susceptibility in Breast Cancer
2019, Biomarkers in ToxicologyGenetic Factors: Hereditary Cancer Predisposition Syndromes
2019, Abeloff’s Clinical OncologyA practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: Referral indications for cancer predisposition assessment
2015, Genetics in MedicineCitation Excerpt :Of males with breast cancer, 15–20% have a BRCA1/2 mutation.63 The overall prevalence of BRCA1 mutations is estimated at 1 in 300 and that of BRCA2 mutations is estimated at 1 in 800, but founder mutations in many populations (e.g., Ashkenazi Jewish,64,65,66,67 Icelandic,68 and Mexican Hispanic69 populations) lead to increased mutation prevalence in these populations. Referral should be considered for any individual with a personal history of or first-degree relative with (i) breast cancer diagnosed at or before age 50; (ii) triple-negative breast cancer diagnosed at or before age 60; (iii) two or more primary breast cancers in the same person; (iv) ovarian, Fallopian tube, or primary peritoneal cancer; (v) Ashkenazi Jewish ancestry and breast or pancreatic cancer at any age; or (vi) male breast cancer.