Criteria for Genetic Testing for Breast Cancer

Personal History Criteria

The National Comprehensive Cancer Network recommends genetic testing for breast cancer for individuals diagnosed with breast cancer at age ≤45 years 1, 2, 3
The National Comprehensive Cancer Network suggests genetic testing for individuals diagnosed with breast cancer at age ≤50 years with one or more close blood relatives with breast cancer at any age 2
Individuals with two primary breast cancers, especially when the first breast cancer diagnosis occurred before age 50, should be considered for genetic testing 1, 2
The National Comprehensive Cancer Network recommends genetic testing for individuals with triple-negative breast cancer diagnosed at age <50 years 2, 4
A personal history of epithelial ovarian, fallopian tube, or primary peritoneal cancer at any age is an indication for genetic testing 2, 5
Male breast cancer is a criterion for genetic testing, regardless of family history 6
Breast cancer at any age with two or more close blood relatives with breast and/or ovarian cancer at any age is an indication for genetic testing 1, 2

The National Comprehensive Cancer Network recommends genetic testing for individuals with a first- or second-degree blood relative meeting personal history criteria 1, 2
Three or more breast and/or ovarian cancer cases on the same side of the family, with at least one diagnosed before age 50, is an indication for genetic testing 4, 5
Two breast cancer cases in close relatives diagnosed before age 40 is a criterion for genetic testing 5
A combination of breast cancer with one or more of the following in close relatives: thyroid cancer, sarcoma, adrenocortical carcinoma, endometrial cancer, pancreatic cancer, brain tumors, diffuse gastric cancer, or leukemia/lymphoma, is an indication for genetic testing 1, 3
A family member with a known mutation in a breast cancer susceptibility gene is an indication for genetic testing 1, 2

Ashkenazi Jewish descent with breast cancer diagnosed at age <60 years is an indication for genetic testing 2, 5
Ashkenazi Jewish descent with breast or ovarian cancer at any age may have less stringent testing criteria due to higher prevalence of founder mutations 1

Testing should begin with an affected family member who has the highest likelihood of carrying a mutation 2, 7
If no living affected family member is available, testing unaffected relatives should be considered with appropriate counseling about limitations 7
For Ashkenazi Jewish individuals, initial testing for the three common founder mutations is recommended 7
If founder mutation testing is negative but other criteria are met, full sequence testing should be considered 7

Genetic counseling should be provided before testing to discuss benefits, risks, and limitations of genetic testing 1, 5
Possible test results and implications for the patient and family should be discussed during genetic counseling 1, 7
Potential psychological impact, cost and insurance considerations, and privacy and discrimination concerns should be addressed during genetic counseling 1, 4, 7

Probability models such as BRCAPRO, BOADICEA, and Manchester Score can guide testing decisions 4, 5, 8
Testing is often considered when there is a 10-20% probability of finding a mutation 4, 5

Positive results should prompt discussion of risk-reducing strategies and cascade testing of relatives 7, 8
Variants of uncertain significance should not be used for clinical decision-making 7
Negative results in families with no known mutation should be managed based on family history risk assessment 3