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breast cancer susceptibility gene-2 [BRCA-2]

Germline mutations associated with 35% of families with multiple case early onset female breast cancer; also associated with increased risk of male breast cancer, ovarian cancer, prostate cancer & pancreatic cancer. The likelihood of breast cancer varies substantially among BRCA1 & BRCA2 mutation carriers, most likely due to additional risk factors. [4]

Related

breast cancer breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein, BRCA2, FACD, FANCD1)

General

unclassified gene

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: BRCA2 protein LOCUS: human chromosome-13 Q12-13 MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

References

  1. Wooster R, Stratton MR. Breast cancer susceptibility: a complex disease unravels. Trends Genet. 1995 Jan;11(1):3-5. Review. PMID: 7900193
  2. Gayther SA, Ponder BA. Mutations of the BRCA1 and BRCA2 genes and the possibilities for predictive testing. Mol Med Today. 1997 Apr;3(4):168-74. Review. PMID: 9134530
  3. Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
  4. Begg CB etl al, Variation of breast cancer risk among BRCA1/2 carriers. JAMA 2008, 299:194 PMID: 18182601