The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer
Abstract Background Pathogenic variants that occur in the familial breast cancer genes (BRCA1/2) lead to truncated ineffective proteins in the majority of cases. These variants are mostly represented by small deletions/insertions, nonsense- and splice-site variants, although some larger pathogenic r...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-05-01
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Series: | BMC Cancer |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12885-020-06917-y |