Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

Abstract Background Mutated BRCA1/2 genes are associated with hereditary breast and ovarian cancer (HBOC). So far most of the identified BRCA1/2 pathogenic variants are single nucleotide variants (SNVs) or insertions/deletions (Indels). However, large genomic rearrangements (LGRs) such as copy numbe...

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Bibliographic Details
Main Authors: Wen-Ming Cao, Ya-Bing Zheng, Yun Gao, Xiao-Wen Ding, Yan Sun, Yuan Huang, Cai-Jin Lou, Zhi-Wen Pan, Guang Peng, Xiao-Jia Wang
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Cancer
Subjects:
Chinese
Familial breast cancer
Familial ovarian cancer
BRCA1
BRCA2
Rearrangement
Online Access:http://link.springer.com/article/10.1186/s12885-019-5765-3

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