There are several risk-assessment tests under development that utilize DNA samples (usually obtained from saliva) to assess for specific single nucleotide polymorphisms (SNPs) – variations in DNA that are known or suspected to be associated with elevated risk. The SNP analysis is combined with the Tyrer-Cusik assessment to provide a 5-year likelihood of developing breast cancer. Unlike computer models alone, these tests can provide a more personalized risk assessment. Insurance coverage for these tests is variable, and they are not yet widely available. Patients who are considered to be “high risk” based on the model or SNP testing are candidates for more intensive surveillance, often receiving a recommendation for both mammogram and MRI exams.
Depending on family history of breast, ovarian and other cancers, formal genetic testing may be recommended. The most common breast cancer-associated gene mutations occur in the BRCA 1 and 2 genes, but there are many other genetic mutations that have been identified which may result in an increased risk of breast and other cancers, such as PALB2, ATM, CHEK2, and others, and testing for these mutations may also be appropriate depending on your family history. Any family history of ovarian or male breast cancer is an indication for genetic testing, and all men newly diagnosed with breast cancer should undergo testing. FORCE is a national advocacy organization providing support and education for patients with genetic mutations that put them at high risk for breast and ovarian cancer.
Updated 15 June 2019