BRCA1 gene mutation

Introduction

see BRCA1/BRCA2 genotyping

Genetics

• autosomal dominant with incomplete penetrance

Complications

• cumulative risk for breast cancer by age 80
  • 72% in BRCA1 carriers & 69% in BRCA2 carriers
• cumulative risk for ovarian cancer by age 80
  • 44% in BRCA1 carriers & 17% in BRCA2 carriers

Management

• BRCA1 gene mutation in women with (or without) breast cancer is managed with bilateral oophorectomy
  • bilateral mastectomy is not mandatory, but considered as shared decision
    • bilateral mastectomy is associated with lower overall & breast cancer- specific mortality, but the decision remains a shared one

More general terms

• BRCA gene mutation (BRACAnalysis CDx)

Additional terms

• BRCA1 gene mutation positive
• BRCA1/BRCA2 genotyping
• breast cancer type 1 susceptibility protein (BRCA1)