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Article

The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.

BMC cancer - 6 May 2020

van der Merwe Nerina C, Oosthuizen Jaco, Theron Magdalena, Chong George, Foulkes William D

Abstract excerpt

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 rearrangements occur. Currently, their contribution to familial breast cancer (BC) and ovarian cancer (OVC) in South Africa...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32375709
DOI: 10.1186/s12885-020-06917-y
PMCID: PMC7203887

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