From the Guidelines
Yes, there is a reason to refer a patient to genetics even if their mother with breast cancer does not carry a BRCA gene mutation. Only about 5-10% of breast cancers are hereditary, and while BRCA1 and BRCA2 are the most well-known genes associated with hereditary breast cancer, there are many other genes that can increase breast cancer risk, including PALB2, CHEK2, ATM, TP53, PTEN, and others. A genetics referral would be appropriate if there is a strong family history of breast cancer (multiple affected relatives, especially at young ages), bilateral breast cancer, male breast cancer, or breast cancer in combination with other cancers like ovarian, pancreatic, or prostate cancer. The genetics evaluation would involve a comprehensive family history assessment and possibly multi-gene panel testing to identify other potential hereditary cancer syndromes. Even if no genetic mutation is identified, the patient might still benefit from enhanced screening based on family history alone. Additionally, genetic testing technology continues to improve, and variants of uncertain significance may be reclassified over time, making ongoing genetic counseling valuable 1.
Some key points to consider:
- The USPSTF recommends that women whose family history is associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing 1.
- The USPSTF found insufficient evidence to recommend one risk assessment tool over another or to support a specific risk threshold for referral for genetic counseling and BRCA testing 1.
- Genetic counseling about BRCA mutation testing may be done by trained health professionals, including trained primary care providers 1.
- The process of genetic counseling includes detailed kindred analysis and risk assessment for potentially harmful BRCA mutations; education about the possible results of testing and their implications; identification of affected family members who may be preferred candidates for testing; outlining options for screening, risk-reducing medications, or surgery for eligible patients; and follow-up counseling for interpretation of test results 1.
From the Research
Referral to Genetics
The patient's mother does not carry the BRCA gene but had breast cancer, which raises questions about the potential genetic risk factors for the patient.
- The patient's family history of breast cancer is a significant risk factor, as approximately 5-10% of breast cancer cases are associated with a family history 2.
- Studies have shown that family history can influence the characteristics of breast cancer, including patient age, tumor stage, and grade 2.
- The BOADICEA breast cancer risk model can be used to estimate the patient's risk of developing breast cancer based on their family history and other genetic factors 3.
- The model takes into account the effects of truncating variants in several genes, including PALB2, CHEK2, and ATM, in addition to BRCA1 and BRCA2 3.
- A family history score (FHS) that accounts for the expected number of family cases based on the family's age-structure and national cancer incidence rates can provide a more accurate estimate of breast cancer risk 4.
Genetic Counseling
Genetic counseling may be beneficial for the patient to discuss their individual risk factors and develop a personalized plan for screening and prevention.
- The patient's family history and genetic test results can be used to estimate their risk of developing breast cancer and other cancers 5, 3.
- Genetic counseling can also help the patient understand the implications of their family history and genetic test results for their relatives 6.
- A personalized approach to counseling, screening, and risk reduction should be undertaken for individuals with a strong family history of breast cancer 6.