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Prevalence of BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish (AJ) families with breast cancer (BC) and pancreatic cancer (PC)



Prevalence of BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish (AJ) families with breast cancer (BC) and pancreatic cancer (PC)



Journal of Clinical Oncology 23(16_Suppl): 9549-9549



NlmCategory="UNASSIGNED">9549 Background: Germline mutations in BRCA2 have been associated with an increased risk for PC. Breast-pancreas (BP) families with BRCA1 mutations have also been observed. The purpose of this study was to evaluate the prevalence of germline BRCA mutations in BP families. Clinical databases were reviewed to identify AJ families meeting the following criteria: 1) proband or at least one individual in kindred with BC before age 50, ovarian cancer (OC) at any age, or both, 2) proband or a first-, second- or third degree relative (FDR, SDR, TDR) with PC, and 3) affected proband tested for the 3 common AJ founder BRCA mutations (BRCA1 185delAG or 5382insC, BRCA2 6174delT). 57 families met the above criteria. BRCA1 or BRCA2 mutations were identified in 25 of 57 families (43.9%). BRCA1 mutations (12 - 185delAG, 2 - 5382insC) were observed in 14 of 25 families with mutations (56% of families with mutations; 24.6% of all families). BRCA2 6174delT was observed in 11 families (44% of families with mutations; 19.3% of all families). Mutations were found in 15 of 44 (34.1%) families with BC and PC but no OC (9 - BRCA1, 6 - BRCA2). Mutations were found in 10 of 13 (76.9%) families with OC and PC, with or without BC (5 - BRCA1, 5 - BRCA2). A family history of PC appears to increase the likelihood of identifying a BRCA founder mutation in AJ probands with early-onset BC or with OC. Furthermore, BRCA1 mutations are as common as BRCA2 mutations, suggesting that BRCA1 mutations are associated with an increased risk for PC. No significant financial relationships to disclose.

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Accession: 058615557

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PMID: 27946779


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