New Germline Genetic Testing Guidelines for Patients with Breast Cancer
Posted on January 05, 2024
Germline Testing in Patients With Breast Cancer: ASCO–Society of Surgical Oncology Guideline
An expert panel has developed new guideline recommendations for germline testing in patients with breast cancer.
Recommendations:
- All patients newly diagnosed with breast cancer with stage I-III or de novo stage IV/metastatic disease who are 65 years or younger at diagnosis should be offered BRCA1/2 testing.
- All patients newly diagnosed with breast cancer with stage I-III or de novo stage IV/metastatic disease who are older than age 65 should be offered BRCA1/2 testing if:
- they are candidates for poly(ADP–ribose) polymerase (PARP) inhibitor therapy for early-stage or metastatic disease
- they have triple-negative breast cancer
- their personal or family history suggests the possibility of a pathogenic variant
- they are males
- they are of Ashkenazi Jewish ancestry or are members of a population with an increased prevalence of founder mutations
- Patients undergoing BRCA1/2 testing should also be offered testing for other cancer predisposition genes as suggested by their personal or family history. Consultation with a provider experienced in clinical cancer genetics can help guide this decision-making and should be made available to patients when possible.
- All patients with recurrent breast cancer (local or metastatic) who are candidates for PARP inhibitor therapy should be offered BRCA1/2 testing regardless of family history.
- BRCA1/2 testing should be offered to patients with a second primary cancer either in the contralateral or ipsilateral breast.
- All patients with a personal history of breast cancer diagnosed ≤65 years who are without active disease should be offered BRCA1/2 testing if the result will inform personal risk management or family risk assessment.
- All patients with a personal history of breast cancer diagnosed over age 65 with no active disease, who meet one of the following criteria, should be offered BRCA1/2 testing if the result will inform personal risk management or family risk assessment:
- their personal or family history suggests the possibility of a pathogenic variant,
- they are males
- they had triple-negative breast cancer
- they are of Ashkenazi Jewish ancestry or are members of a population with an increased prevalence of founder mutations
- Testing for high penetrance genes beyond BRCA1/2, including PALB2, TP53, PTEN, STK11, and CDH1, could inform medical therapy, influence surgical decision making, refine estimates of risks of second primary cancer, and inform family risk assessment, and thus should be offered to appropriate patients.
- Testing for moderate penetrance breast cancer genes currently offers no benefits for treatment of the index breast cancer but may inform risks of second primary cancer or family risk assessment, and thus may be offered to appropriate patients who are undergoing BRCA1/2 testing.
- If a multi-gene panel is ordered, the specific panel chosen should take into account the patient's personal and family history. Consultation with a provider experienced in clinical cancer genetics can be helpful in selecting a specific multi-gene panel or interpreting its results and should be made available to patients when possible.
- Patients undergoing genetic testing should be given sufficient information before testing to provide informed consent.
- Patients with pathogenic variants should be provided with individualized post-test genetic counseling and offered referral to a provider experienced in clinical cancer genetics.
- Variants of uncertain significance should not alter management. Patients should be made aware that variants of uncertain significance may be reclassified as being pathogenic, and they should understand that periodic follow up is necessary. Consultation with a provider experienced in clinical cancer genetics can be helpful and should be made available to patients when possible.
- Patients without a pathogenic variant on genetic testing may still benefit from counseling, if there is a significant family history of cancer, and referral to a provider experienced in clinical cancer genetics is recommended.