Evaluation of bone health in breast cancer patients with germline pathogenic variants

Patients with breast cancer (BC) have an increased risk of bone loss due to both the cancer itself and the side effects of antineoplastic therapies. This study evaluated the bone health of survivors of BC with germline pathogenic variants (PVs). This is a retrospective cross-sectional study. We identified 165 BC patients in whom PVs in BC susceptibility genes were diagnosed between February 2017 and December 2022 at our breast health center in Acibadem Altunizade Hospital. Only 80 patients underwent dual-energy X-ray absorptiometry (DXA) at the time of diagnosis. The median patient age was 44 years. Of 80 patients, 47% had (n = 38) had BRCA1 and BRCA2, while the remaining 53% (n = 42) had other PVs, which we refer to as non-BRCA. Risk-reducing bilateral salpingo-oophorectomy (RRBSO) was performed in 21 patients with BRCA and 6 patients with non-BRCA PVs patients (p < 0.001). At the 68-months follow up period, a total of 53% had osteopenia, and 11% had osteoporosis. According to the mutation type, among patients with BRCA1 and BRCA2, 47% exhibited osteopenia and 11% had osteoporosis. In non-BRCA, 57% had osteopenia and 12% had osteoporosis (p > 0.05). In this study, we showed that patients with BRCA and non-BRCA mutations have similar rates of osteopenia and osteoporosis. This is particularly important for non-BRCA mutation carriers, because there is insufficient data on this subject.