Genetic Mutations Associated with Breast Cancer

High-Penetrance Genes

The American Society of Clinical Oncology recommends that BRCA1 and BRCA2 carriers undergo risk-reducing mastectomy, as these mutations confer a 50-85% lifetime risk of breast cancer 1, 2
BRCA1 carriers have a 10-40% lifetime risk of ovarian cancer, while BRCA2 carriers have a 10-20% lifetime risk of ovarian cancer 1, 2
Male BRCA2 carriers have a 5-10% lifetime risk of breast cancer 1
The National Comprehensive Cancer Network recommends that BRCA1 and BRCA2 carriers undergo annual breast MRI screening, as these tumors are typically triple-negative and high-grade 1, 3
The American College of Medical Genetics and Genomics recommends that individuals with a family history of breast or ovarian cancer undergo genetic testing for BRCA1 and BRCA2 mutations 1, 3

The American Cancer Society recommends that women with moderate-penetrance gene mutations, such as CHEK2, ATM, PALB2, and BRIP1, undergo annual breast MRI screening if their calculated lifetime risk is ≥20% 5, 6
The National Cancer Institute recommends that women with moderate-penetrance gene mutations undergo clinical breast examination every 6 months 5, 6
The American Society of Clinical Oncology recommends that women with moderate-penetrance gene mutations use risk assessment models, such as Tyrer-Cuzick or BOADICEA, to estimate their lifetime risk of breast cancer 5, 6

The American College of Obstetricians and Gynecologists recommends that women with high-penetrance gene mutations undergo risk-reducing salpingo-oophorectomy to reduce their risk of ovarian cancer 7
The American Society of Clinical Oncology recommends that women with high-penetrance gene mutations undergo annual breast MRI screening and clinical breast examination every 6 months 3
The National Comprehensive Cancer Network recommends that women with high-penetrance gene mutations undergo genetic counseling and consider risk-reducing mastectomy or salpingo-oophorectomy 1, 3

The American Cancer Society recommends that primary care providers use brief familial risk stratification tools, such as the Referral Screening Tool or FHS-7, to determine the need for genetic counseling 7, 8
The National Cancer Institute recommends that women with a strong family history of breast or ovarian cancer undergo genetic testing for BRCA1 and BRCA2 mutations, even if they have not been diagnosed with cancer themselves 7, 8
The American College of Medical Genetics and Genomics recommends that women with a family history of breast or ovarian cancer undergo comprehensive risk assessment, including genetic testing and family history evaluation 7, 8