The value of clinical breast examination in a breast cancer surveillance program for women with germline BRCA1 or BRCA2 mutations.

Objective: To assess the sensitivity and specificity of clinical breast examination for detecting breast cancer in asymptomatic women with predisposing germline mutations enrolled in a cancer risk management program that includes radiologic screening.

Design, Setting: Retrospective, longitudinal cohort study of women with BRCA1/2 mutations who attended the Breast and Ovarian Cancer Risk Management Clinic at the Peter MacCallum Cancer Centre, a tertiary referral centre in Melbourne, during 1 September 2001 - 31 December 2019.

Participants: Consecutive women with BRCA1/2 mutations who did not have personal histories of cancer and had not undergone bilateral risk-reducing mastectomy, and who had visited the clinic at least twice during the study period. Participants had generally undergone breast examination at 6- or 12-month intervals, and annual breast imaging (mammography; and magnetic resonance imaging [MRI] for women aged 50 years or younger).

Main Outcome Measures: Sensitivity (proportion of all biopsy-confirmed breast cancers detected by breast examination alone) and specificity of breast examination for detecting breast cancer.

Results: Of 414 eligible women (mean age, 35.5 years; SD, 11.2 years), 35 were diagnosed with breast cancer during 1761 woman-years of follow-up. Only two were diagnosed based on breast examination alone (ie, without radiologic evidence), neither of whom was undergoing MRI screening. The sensitivity of breast examination was 6% (95% CI, 1-19%), the specificity 97% (95% CI, 95-98%); the positive predictive value was 14% (95% CI, 2-43%), the negative predictive value 92% (95% CI, 89-94%).

Conclusion: Clinical breast examination did not increase the number of breast cancers detected in MRI-screened women with BRCA1/2 mutations. Removing breast examination from surveillance programs that include MRI may be reasonable for these women.