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Int J Cancer. 2020 Jan 20;:
Authors: Meng H, Yao L, Yuan H, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y
Abstract
The spectrum and frequency of BRCA1/2 pathogenic variants may be ethnicity-specific. Whether high-frequency founder mutations are present in Chinese women is still largely unknown. In the current study, germline pathogenic variants in the BRCA1/2 genes were determined in 9505 unselected Chinese Han breast cancer patients by next-generation and/ or Sanger sequencing. Four hundred and seventy-one (5.0%) breast cancer patients carried BRCA1/2 pathogenic variants in this cohort. A total of 25 recurrent pathogenic variants (at least found in 4 unrelated patients) were identified in this cohort (8 BRCA1 and 17 BRCA2 recurrent pathogenic variants), 161 patients carried one of these recurrent pathogenic variants in this cohort of 9505 patients. All of these 25 recurrent pathogenic variants were further explored whether they had founder effect through haplotype analysis. The most common pathogenic variant, BRCA1 c.5470_5477del, was found in 30 breast cancer patients from 29 unrelated families. Twenty-seven of these 29 unrelated patients who carried this BRCA1 c.5470_5477del mutation shared an identical haplotype, indicating that BRCA1 c.5470_5477del was a founder mutation in the Chinese Han population. Furthermore, BRCA1 c.5470_5477del mutation carriers had a significantly worse survival than non-carriers (disease-free survival, P = 0.049; overall survival, P = 0.029). Taken together, our data suggested that BRCA1 c.5470_5477del is a founder mutation in the Chinese Han population and BRCA1 c.5470_5477del mutation carriers have a poor survival. This article is protected by copyright. All rights reserved.
PMID: 31957001 [PubMed - as supplied by publisher]
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