Article
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.
Clinical cancer research : an official journal of the American Association for Cancer Research - 1 Sept 2020
Bouwman Peter, van der Heijden Ingrid, van der Gulden Hanneke, de Bruijn Roebi, Braspenning Merel E, Moghadasi Setareh, Wessels Lodewyk F A, Vreeswijk Maaike P G, Jonkers Jos
Abstract excerpt
PURPOSE: Because BRCA1 is a high-risk breast/ovarian cancer susceptibility gene, BRCA1 sequence variants of uncertain clinical significance (VUS) complicate genetic counseling. As most VUS are rare, reliable classification based on clinical and genetic data is often impossible. However, all pathogenic BRCA1 variants analyzed result in defective homologous recombination DNA repair (HRR). Thus, BRCA1 VUS may be...
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