Germline Testing for Patients With BRCA1/2 Mutations on Somatic Tumor Testing

Area of Science:

• Oncology
• Medical Genetics
• Cancer Research

Background:

• The National Comprehensive Cancer Network (NCCN) guidelines recommend germline testing for pathogenic BRCA1/2 mutations found in somatic tumor sequencing.
• This study investigates adherence to these guidelines at Stanford University.

Purpose of the Study:

• To determine if patients with somatic BRCA1/2 mutations at Stanford were recommended for germline testing according to NCCN guidelines.
• To identify factors associated with the recommendation for germline testing.

Main Methods:

• Retrospective review of Stanford patients with BRCA1/2 mutations identified via tumor sequencing.
• Analysis of medical records to identify germline testing recommendations.
• Multivariable logistic regression to associate patient characteristics with testing recommendations.

Main Results:

• Out of 164 participants, 51 (31.1%) did not receive a germline testing recommendation.
• Among 97 patients with available results, 55.7% were positive for pathogenic BRCA1/2 mutations.
• Patients with genitourinary, lung, sarcoma, skin, or other cancers were significantly less likely to be recommended for germline testing compared to those with breast or gynecological cancers.

Conclusions:

• A significant proportion of patients with somatic BRCA1/2 mutations do not receive recommended germline testing.
• There is a critical need for enhanced provider education, particularly outside of traditional breast and gynecological oncology specialties.
• Further research into referral patterns for germline testing based on somatic findings is warranted.