Genes and variants

Function

Encodes a tumour suppressor central to homologous recombination repair of DNA double-strand breaks.

Clinical relevance

Loss-of-function variants confer substantially increased lifetime risk of breast and ovarian cancer and inform surveillance and risk-reducing options.

Selected variants

• c.68_69delAG (p.Glu23ValfsTer17)

  Pathogenic (established)

  Founder frameshift variant described in Ashkenazi Jewish populations.

• c.5266dupC (p.Gln1756ProfsTer74)

  Pathogenic (established)

  Recurrent frameshift variant reported across multiple populations.

References

• NCBI Gene
• ClinVar