Outcome of Preventive Surgery and Screening for Breast and Ovarian Cancer in <i>BRCA</i> Mutation Carriers

TLDR

The study prospectively evaluated how genetic counseling and testing influence risk‑reducing strategies and cancer incidence among BRCA mutation carriers. The authors followed 251 BRCA‑positive individuals for an average of 24.8 months, providing uniform screening and preventive surgery recommendations through counseling and monitoring adherence via questionnaires, chart reviews, and physician contact. Follow‑up revealed 21 cancers (breast, ovarian, peritoneal, or fallopian tube) after testing, with early‑stage lesions identified in risk‑reducing surgeries and screening, and no stage III/IV cancers detected, demonstrating that counseling and testing increased surveillance and enabled early diagnosis in BRCA carriers.

Abstract

To prospectively determine the impact of genetic counseling and testing on risk-reduction strategies and cancer incidence in a cohort of individuals at hereditary risk for breast and ovarian cancer.Two hundred fifty-one individuals with BRCA mutations were identified at a single comprehensive cancer center from May 1, 1995, through October 31, 2000. Uniform recommendations regarding screening and preventive surgery were provided in the context of genetic counseling. Patients were followed for a mean of 24.8 months (range, 1.6 to 66.0 months) using standardized questionnaires, chart reviews, and contact with primary physicians.Frequency of cancer surveillance by physical examinations and imaging studies increased after genetic counseling and testing. Twenty-one breast, ovarian, primary peritoneal, or fallopian tube cancers were detected after receipt of genetic test results. Among 29 individuals choosing risk-reducing mastectomy after testing, two were found to have occult intraductal breast cancers. Among 90 individuals who underwent risk-reducing salpingo-oophorectomy, one early-stage ovarian neoplasm and one early-stage fallopian tube neoplasm were found. Radiographic or tumor marker-based screening detected six breast cancers, five of which were stage 0/I, one early-stage primary peritoneal cancer, and three stage I or II ovarian cancers. Six additional breast cancers were detected by physical examination between radiographic screening intervals; four of these six tumors were stage I. No stage III or stage IV malignancies were detected after genetic testing.This study provides prospective evidence that genetic counseling and testing increased surveillance and led to risk-reducing operations, which resulted in diagnosis of early-stage tumors in patients with BRCA1 and BRCA2 mutations.