Photo Credit: Pradit Ph
The following is a summary of “Germline Testing in Patients With Breast Cancer: ASCO–Society of Surgical Oncology Guideline,” published in the January 2024 issue of Oncology by Bedrosian, et al.
For a study, researchers sought to formulate recommendations for germline mutation testing in patients diagnosed with breast cancer.
A panel convened by the ASCO–Society of Surgical Oncology (SSO) developed recommendations through a systematic review and consensus process.
Forty-seven articles met the eligibility criteria for germline mutation testing recommendations, while 18 articles were included for genetic counseling recommendations. BRCA1/2 mutation testing should be provided to all newly diagnosed breast cancer patients aged ≤65 years and selectively to those >65 years based on personal or family history, ancestry, or eligibility for PARP inhibitor therapy. Patients with recurrent breast cancer eligible for PARP inhibitor therapy should undergo BRCA1/2 testing regardless of family history. BRCA1/2 testing should also be offered to women with a second primary breast cancer in either breast. For breast cancer survivors without active disease, testing should be offered to those diagnosed ≤65 years and selectively to those diagnosed after 65 years if it informs personal and family risk. Additionally, testing for high-penetrance cancer susceptibility genes beyond BRCA1/2 is recommended for patients with supportive family histories, while moderate-penetrance genes may be considered. Patients should receive comprehensive pretest information for informed consent and personalized post-test counseling for those with pathogenic variants. Variants of uncertain significance should not affect management decisions, and patients with such variants should be monitored for reclassification. Referral to experienced clinical cancer genetics providers can assist in patient selection, interpretation of expanded testing, and counseling individuals with significant family history but no pathogenic germline variants.
Establishing these recommendations for germline mutation testing in breast cancer patients guides clinicians in determining appropriate testing strategies and counseling patients regarding their risk and management options.
Reference: ascopubs.org/doi/10.1200/JCO.23.02225