Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patientsopen access
- Authors
- Park, Bo young; Sohn, Ji Yeon; Yoon, Kyong-Ah; Lee, Keun Seok; Cho, Eun Hae; Lim, Myong Cheol; Yang, Moon Jung; Park, Soo Jin; Kong, Sun-Young; Lee, Eun Sook
- Issue Date
- May-2017
- Publisher
- Kluwer Academic Publishers
- Keywords
- BRCA1/2 mutation; Breast cancer; Family counseling; Genetic counseling; Large genomic rearrangements
- Citation
- Breast Cancer Research and Treatment, v.163, no.1, pp.139 - 150
- Indexed
- SCIE
SCOPUS
- Journal Title
- Breast Cancer Research and Treatment
- Volume
- 163
- Number
- 1
- Start Page
- 139
- End Page
- 150
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/152366
- DOI
- 10.1007/s10549-017-4142-7
- ISSN
- 0167-6806
- Abstract
- 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.
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