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ASCO and the Society of Surgical Oncology (SSO) recently issued a new guideline on germline testing for breast cancer patients based on a systematic review and formal consensus process. This guideline significantly expands on previous recommendations, aiming to ensure more women have access to this critical information.

A key recommendation is that all women who are age 65 or younger with a new diagnosis of early stage (I-III) or de novo stage IV/metastatic breast cancer should be offered BRCA1/2 testing. This broader approach reflects the understanding that younger women can carry germline genetic mutations that increase cancer risk.

The guideline also recommends BRCA1/2 testing for select patients over 65 with early stage or metastatic breast cancer. Factors considered here include a patient's personal and family history suggesting the possibility of a pathogenic variant, Ashkenazi Jewish ancestry or member of a population with an increased prevalence of founder mutations, triple-negative breast cancer, and eligibility for poly (ADP–ribose) polymerase (PARP) inhibitor therapy. Selective testing for those over 65 is also encouraged if it can inform personal risk management and family cancer risk assessment.

Notably, all patients with recurrent breast cancer who are candidates for PARP inhibitors are advised to undergo testing regardless of age or family history. The guideline recommends BRCA1/2 testing for women who develop a second primary breast cancer either in the contralateral or ipsilateral breast.

Recognizing the growing understanding of genetic risk factors for breast cancer, the guideline goes beyond BRCA1/2 testing. It recommends analyzing additional high-penetrance genes in some cases, particularly for patients with a strong family history of certain cancers. Additionally, testing for moderate-penetrance genes may be offered on a case-by-case basis and consultation with a provider experienced in clinical cancer genetics is advised when possible.

This ASCO-SSO guideline offers several strengths. It provides clear and concise recommendations for a wider range of patients with breast cancer. The emphasis on genetic counseling ensures patients understand the implications of testing before making informed decisions. Additionally, the inclusion of recommendations for genes beyond BRCA1/2 reflects the evolving knowledge of genetic risk factors.

The guideline also acknowledges some areas for future consideration. Cost and access to genetic testing remain important issues. However, it remains a valuable tool for physicians managing breast cancer, as following its evidence-based recommendations can ensure appropriate genetic testing for patients, leading to informed treatment decisions and potentially better outcomes.

Arun Kumar, MD, is a hematology/oncology fellow PGY-5 at MedStar Georgetown University Hospital in Washington, DC.; Simran Kumari, MBBS, is an internal medicine residency applicant in the United States; and Zeeshan Solangi, MD, is a clinical instructor of medicine at Yale University Hospital in New Haven, Connecticut.

Read the guideline here and an interview about it here.