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Gen · Cancer

BRCA1

BRCA1 DNA repair associated — A DNA repair gene whose loss substantially raises the risk of breast and ovarian cancer — important to gene editing mostly because of the repair pathway it serves.

17q21.31 cancerDNA repair
Chromosoom 17 BRCA1 17q21.31 p q

Alleen schematisch — de verhoudingen van de armen zijn bij benadering en de banddetails zijn niet op schaal getekend. Cytogenetische locatie zoals gepubliceerd door NCBI Gene.

Wat dit gen doet

BRCA1 helps repair a specific kind of DNA damage: breaks through both strands. Inherit a broken copy and your cells repair such damage less well, and cancer risk rises substantially. It matters to gene editing for a reason people find surprising: the repair pathway BRCA1 works in is the same one CRISPR relies on when it makes a precise correction.

BRCA1, at 17q21.31, encodes a tumour suppressor central to homologous recombination repair of double-strand breaks. Pathogenic variants confer substantially elevated lifetime risk of breast and ovarian cancer. Its relevance to editing is mechanistic: homology-directed repair, the pathway required for template-based correction after a Cas9 cut, is the pathway BRCA1 serves — and it operates only in dividing cells, which is a fundamental constraint on precise editing.

Sources

  • MedlinePlus Genetics, U.S. National Library of Medicine
    BRCA1 gene ↗

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Diseases

Cancer