The definitive guide to gene editing.
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Gene · Cancer

BRCA2

BRCA2 DNA repair associated — The second major hereditary breast and ovarian cancer gene, also central to repairing double-strand DNA breaks.

13q13.1 cancerDNA repair
Chromosome 13 BRCA2 13q13.1 p q

Schematic only — arm proportions are approximate and band detail is not drawn to scale. Cytogenetic location as published by NCBI Gene.

What this gene does

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 ↗

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Diseases

Cancer