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J-GLOBAL ID：202102242995238523   Reference number：21A0188402

Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome

生殖系列多遺伝子パネル検査はLynch症候群が疑われる患者におけるBRCA2病原性変異体を明らかにした

Author (20)： Yoshihama Tomoko (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan) ,  Hirasawa Akira (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan) ,  Hirasawa Akira (Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan) ,  Hirasawa Akira (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Sugano Kokichi (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Sugano Kokichi (Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan) ,  Sugano Kokichi (Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan) ,  Yoshida Teruhiko (Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan) ,  Ushiama Mineko (Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan) ,  Ueki Arisa (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Akahane Tomoko (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan) ,  Nanki Yoshiko (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan) ,  Sakai Kensuke (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan) ,  Makabe Takeshi (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan) ,  Yamagami Wataru (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan) ,  Susumu Nobuyuki (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan) ,  Susumu Nobuyuki (Department of Obstetrics and Gynecology, International University of Health and Welfare, Chiba, Japan) ,  Kameyama Kaori (Department of Pathology, Showa University Northern Yokohama Hospital, Kanagawa, Japan) ,  Kosaki Kenjiro (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Aoki Daisuke (Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan)
Material： International Cancer Conference Journal (Web)  (Int Cancer Conf J (Web))
Volume： 10  Issue： 1  Page： 6-10  Publication year： 2021 
JST Material Number： U0703A  ISSN： 2192-3183  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *Lynch syndrome ,...

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Author keywords (5)： BRCA2 ,  Hereditary breast and ovarian cancer ,  Multigene panel testing ,  Genetic counseling ,  Lynch syndrome

JST classification (4)： Molecular genetics in general  (EC02010J) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Tumors(=neoplasms)of female genitalia and fetus  (GS04000K) ,  Surgical treatment for tumors  (GE03033T)

Terms in the title (7)： 生殖系列 ,  遺伝子パネル検査 ,  Lynch症候群 ,  患者 ,  BRCA2 ,  病原性 ,  変異体