학술논문

Review of BRCA2 pathogenic variant-positive cases in pancreatic cancer patients undergoing precision medicine / がんゲノム医療における膵癌患者のBRCA2病的バリアント陽性例の検討
Document Type
Journal Article
Source
遺伝性腫瘍 / Journal of Hereditary Tumors. 2022, 22(2):45
Subject
BRCA2
cancer genomic medicine
genetic counselling
hereditary breast and ovarian caner(HBOC)
pancreatic cancer
surveillance
がんゲノム医療
サーベイランス
膵癌
遺伝カウンセリング
遺伝性乳癌卵巣癌症候群
Language
Japanese
ISSN
2435-6808
Abstract
It has been reported that approximately 4% of pancreatic cancer patients have germline BRCA2 pathogenic variants. If a blood relative of a patient carries the same variant, their risk of pancreatic cancer is increased, in addition to their increased risk of breast and ovarian cancer, and support of this individual becomes important. Among 72 pancreatic cancer patients who underwent precision medicine at our hospital, we review 5 cases with BRCA2 presumed germline pathogenic variant(PGPV)and germline finding in detail.