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...

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Bibliographic Details
Main Authors: Nerina C. van der Merwe, Jaco Oosthuizen, Magdalena Theron, George Chong, William D. Foulkes
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Cancer
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12885-020-06917-y