A patient with HBOC syndrome who was referred to a university hospital using the JOHBOC cooperation system, was diagnosed with a pathogenic variant of BRCA1, and treated by RRSO: a case report

• Published in: Journal of Hereditary Tumors Vol. 21; no. 1; pp. 31 - 34
• Main Authors: Niiro, Emiko, Tanaka, Yukimi, Sho, Masayuki, Yokotani, Tomoyo, Nakamura, Takashi, Nishikubo, Toshiya, Masui, Kaoru, Hirao, Tomoko, Miyagi, Megumi, Ikeda, Naoya
• Format: Journal Article
• Language: Japanese
• Published: The Japanese Society for Hereditary Tumors 20.05.2021; 一般社団法人 日本遺伝性腫瘍学会
• Subjects: breast cancer; hereditary breast and ovarian cancer syndrome（HBOC）; Japanese Organization of Hereditary Breast and Ovarian Cancer（JOHBOC）; risk reducing salpingo-oophorectomy（RRSO）; リスク低減卵管卵巣摘出術（RRSO）; 乳癌; 日本遺伝性乳癌卵巣癌総合診療制度機構（JOHBOC）; 遺伝性乳癌卵巣癌症候群（HBOC）
• ISSN: 2435-6808
• DOI: 10.18976/jsht.21.1_31

The hereditary breast and ovarian cancer syndrome （HBOC）, presenting an autosomal dominant inheritance pattern, is caused by germline pathogenic variant in the BRCA1/2 genes, which is associated with increased risk of cancer such as breast and ovarian cancer. We report a case of metachronous bilateral breast cancer strongly suspicious of HBOC from her family history. Through productive cooperation system of Japanese Organization of Hereditary Breast and Ovarian Cancer （JOHBOC）, she was diagnosed as HBOC（with a pathogenic variant of BRCA1） and treated by risk reducing salpingo-oophorectomy （RRSO）. Moreover, this cooperation system led to her sister’s genetic counseling with genetic tests and her decision of receiving RRSO after the diagnosis with a pathogenic variant of BRCA1.