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...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-06-01
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Series: | BMC Cancer |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12885-019-5765-3 |