학술논문
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 / 地域密着型病院でHBOCを疑った患者がJOHBOC連携システムを通じて基幹病院でのBRCA1の病的バリアントの診断を受け， リスク低減卵管卵巣摘出術を受けた1例
Document Type
Journal Article
Author
Source
遺伝性腫瘍 / Journal of Hereditary Tumors. 2021, 21(1):31
Subject
Language
Japanese
ISSN
2435-6808
Abstract
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.