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.