Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients

Boyoung ParkJi Yeon SohnKyong-Ah YoonKeun Seok LeeEun Hae ChoMyong Cheol LimMoon Jung YangSoo Jin ParkMoo Hyun LeeSee youn LeeYoon Jung ChangDong Ock LeeSun-Young KongEun Sook Lee
Dept. of Surgery (외과학)
Issue Date
Breast Cancer Research and Treatment, Vol.163(1) : 139-150, 2017
Purpose: We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic. Methods: In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics of patients were evaluated. Results: Sixty-three mutation carriers (13.2%) were identified with BRCA1 mutations (6.3%) and BRCA2 mutations (6.9%), respectively. Mutation frequency was affected by familial and personal factors. Breast cancer patients with family history of breast and ovarian cancer showed the highest prevalence of BRCA1/2 mutations (67%), and triple- negative breast cancer (TNBC) patients showed high BRCA1 mutation prevalence (25%). The three probands of BRCA1 deletion (1%) represented both familial risk and personal or clinicopathological risk factors as two with TNBC and one with bilateral ovarian cancer. Discussion: This is the largest study assessing large genomic rearrangement prevalence in Korea and BRCA1 deletion frequency was low as 1% in patients without BRCA1/2 small mutations. For clinical utility of large genomic rearrangement testing needs further study.
BRCA1/2 mutationLarge genomic rearrangementsBreast cancerGenetic counselingFamily counseling
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