Clinical breast examination of low value in women with BRCA1/2 if radiologic screening available

Cate Swannell
Med J Aust
Published online: 13 September 2021

CLINICAL breast examination can safely be omitted from breast cancer screening of women with BRCA1 and BRCA2 gene mutations if they are undergoing routine radiologic screening, according to research published today by the Medical Journal of Australia.

The lifetime risk of breast cancer for women with mutations in the breast cancer predisposition genes BRCA1 and BRCA2 is about 70%, compared with 14% for the general population.

“These women are offered several strategies to reduce their risk, including risk-reducing bilateral mastectomy, risk-reducing medications, and management of lifestyle factors,” wrote the authors, led by Professor Kelly-Anne Phillips, a consultant medical oncologist at the Peter MacCallum Cancer Centre in Melbourne.

“Women who opt not to have risk-reducing bilateral mastectomy are offered an intensive surveillance program with the aim of early detection of any breast cancer.”

That program includes radiologic surveillance, in the form of annual mammography and, for women under 50 years, magnetic resonance imaging (MRI).

Although clinical breast examination has not been included in Australian cancer management guidelines since 2015, the Royal Australian College of General Practitioners’ guidelines suggest it may be appropriate for high-risk women.

“Reflecting the uncertain evidence base, guidelines offer conflicting advice about the value of clinical breast examination for breast cancer surveillance of women with BRCA1/2 mutations,” wrote Phillips and colleagues.

The authors analysed data from 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 Peter MacCallum Breast and Ovarian Cancer Risk Management Clinic at least twice between September 2001 and 31 December 2019.

“Of 414 eligible women, 35 were diagnosed with breast cancer during 1761 woman-years of follow-up,” Phillips and colleagues reported. “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%, the specificity 97%; the positive predictive value was 14%, the negative predictive value 92%.

"Our findings indicate that, for women with predisposing mutations, omitting clinical breast examination from screening programs that include MRI would be reasonable.

“If MRI cannot be offered or circumstances prevent its use (eg, in breastfeeding women), breast examination may be a worthwhile surveillance tool.

“The removal of breast examination from clinical practice may reduce anxiety and consultation times for screened women, and allow the choice of in person or telehealth consultations for many risk management visits,” Phillips and colleagues concluded.

  • Cate Swannell



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