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

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

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