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breast cancer susceptibility gene-1 [BRCA-1]
Mutations in the BRCA-1 gene are associated with familial breast & ovarian cancer. Penetrance is high. Prevalence of deleterious BRCA1 mutations:
- Ashkenazi Jews > hispanics > whites > African-American > Asian-American women [2] Female carriers of BRCA-1 mutations are estimated to have an 87% lifetime risk of breast cancer. 20% will develop breast cancer by age 40, 51% by age 50 & 87% by the age of 70 years. 65% of carriers surviving to age 70 will develop a 2nd primary breast cancer. The BRCA-1 associated breast cancers are NOT associated with a distinguishable histologic type or metastatic pattern. The likelihood of breast cancer varies substantially among BRCA1 & BRCA2 mutation carriers, most likely due to additional risk factors. [3]
Mutations in the BRCA-1 gene may also increase risk of colorectal cancer (relative risk 4.11) & prostate cancer (relative risk 3.33), but increased risk of cancer at other sites has NOT been identified.
Related
breast cancer
breast cancer type 1 susceptibility protein (BRCA1)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: BRCA1 protein
LOCUS: human chromosome-17 Q21
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, American
College of Physicians, Philadelphia 1998
- John EM et al,
Prevalence of pathogenic BRCA1 mutation carriers in 5 US
racial/ethnic groups.
JAMA 2007, 298:2869
PMID: 18159056
- Begg CB etl al,
Variation of breast cancer risk among BRCA1/2 carriers.
JAMA 2008, 299:194
PMID: 18182601