Article
Factors affecting the implementation of cascade testing of patients with BRCA1 or BRCA2 pathogenic germline variants in Japan.
Journal of genetic counseling - 1 Jun 2025
Kiyozumi Yoshimi, Nishimura Seiichiro, Kado Nobuhiro, Higashigawa Satomi, Horiuchi Yasue, Ishihara Eiko, Harada Rina, Matsubayashi Hiroyuki
Abstract excerpt
In clinical management for hereditary cancer patients, risk assessment is needed not only for patients but also for their blood relatives. In people with Hereditary Breast and Ovarian Cancer syndrome (HBOC), benefits are demonstrated by identifying relatives with BRCA1 and BRCA2 pathogenic germline variants (PGV) and implementing clinical surveillance and risk-reduction surgeries for the at-risk organs. To date,...
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