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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 lower risk patients without a family history of the disease, diagnosed at an early age of onset (

SUBMITTER: van der Merwe NC

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

REPOSITORIES: biostudies-literature

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

van der Merwe Nerina C NC Oosthuizen Jaco J Theron Magdalena M Chong George G Foulkes William D WD

BMC cancer 20200506 1

<h4>Background</h4>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.<h4>Methods</h4>Seven hundred and forty-four patients affected ...[more]

PMID: 32375709

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A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.

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Analysis of BRCA1and BRCA2 large genomic rearrangements in Sri Lankan familial breast cancer patients and at risk individuals.

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Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.

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| S-EPMC4910561 | biostudies-literature

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