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Like BRCA1, BRCA2 helps cells repair breaks that go through both strands of DNA, and inheriting a faulty copy raises cancer risk considerably. Both genes are used as tools in editing research: cells lacking them repair CRISPR cuts differently, which is how researchers study repair pathways in the first place.
BRCA2, at 13q13.1, encodes a protein that loads RAD51 onto resected DNA ends during homologous recombination. Pathogenic variants elevate breast, ovarian, prostate and pancreatic cancer risk; biallelic loss causes Fanconi anaemia subtype D1. In editing research, BRCA2-deficient cells serve as a model for how repair-pathway status determines editing outcome.
Sources
- MedlinePlus Genetics, U.S. National Library of Medicine
BRCA2 gene ↗