ヨツモト　ジュンコ   YOTSUMOTO Junko   四元　淳子    所属   埼玉医科大学  医学部 ゲノム医療科    職種   専任講師
論文種別	学術雑誌(原著)
言語種別	日本語
査読の有無	査読あり
表題	[BRCA2 Mutation Profile in a Proband with Hereditary Breast and Ovarian Cancer-Two Germline Pathogenic Variants Aligned in the Cis Position].
掲載誌名	正式名：Gan to kagaku ryoho. Cancer & chemotherapy 略　 称：Gan To Kagaku Ryoho ISSNコード：03850684/03850684
掲載区分	国内
巻・号・頁	50(10),1089-1091頁
著者・共著者	Yukisawa Seigo, Kakinuma Toshiyuki, Yotsumoto Junko, Kawakami Kentaro, Furukawa Junji, Shinozaki Hiroharu
発行年月	2023/10
概要	AIM: This study reports the first Japanese case of hereditary breast and ovarian cancer (HBOC) carrying two germline pathogenic variants (GPVs) in the BRCA2 gene. METHODS: Genetic testing of the BRCA1 and BRCA2 genes was performed on a young woman with HBOC. Following the identification of two BRCA2 GPVs, her relatives were genetically tested to determine the allele configuration. RESULTS: Two GPVs were identified in the BRCA2 gene of the patient. Because simultaneous BRCA2 GPVs on both parental alleles (trans) cause Fanconi anemia—a condition presenting with bone marrow dysfunction and cancer susceptibility—familial testing was conducted. Testing of her relatives revealed the same variants, confirming they were located in the cis position. CONCLUSION: For patients with multiple GPVs in the BRCA2 gene, evaluating relatives with appropriate genetic counseling is crucial to confirm whether the variants are in cis or trans.
PMID	38035841