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

Methods

Seven hundred and forty-four patients affected with BC or OVC were screened for larger genomic rearrangements (LGRs) by means of multiplex ligation-dependent probe amplification or Next Generation Sequencing using the Oncomine™ BRCA research assay.

Results

The patients represented mostly medium to high-risk families, but also included lo

SUBMITTER: van der Merwe NC 

PROVIDER: S-EPMC7203887 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature