breast cancer susceptibility gene-1 [BRCA-1]

Introduction

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 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.

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.

More general terms

• unclassified gene

Additional terms

• breast cancer