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Author
Yoshihama, Tomoko Department of Obstetrics and Gynecology, Keio University School of Medicine
Hirasawa, Akira Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Kaken ID researchmap
Sugano, Kokichi Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute
Yoshida, Teruhiko Department of Genetic Medicine and Services, National Cancer Center Hospital
Ushiama, Mineko Department of Genetic Medicine and Services, National Cancer Center Hospital
Ueki, Arisa Center for Medical Genetics, Keio University School of Medicine
Akahane, Tomoko Department of Obstetrics and Gynecology, Keio University School of Medicine
Nanki, Yoshiko Department of Obstetrics and Gynecology, Keio University School of Medicine
Sakai, Kensuke Department of Obstetrics and Gynecology, Keio University School of Medicine
Makabe, Takeshi Department of Obstetrics and Gynecology, Keio University School of Medicine
Yamagami, Wataru Department of Obstetrics and Gynecology, Keio University School of Medicine
Susumu, Nobuyuki Department of Obstetrics and Gynecology, Keio University School of Medicine
Kameyama, Kaori Department of Pathology, Showa University Northern Yokohama Hospital
Kosaki, Kenjiro Center for Medical Genetics, Keio University School of Medicine
Aoki, Daisuke Department of Obstetrics and Gynecology, Keio University School of Medicine
Abstract
There has been a rapid advance in germline multigene panel testing by next-generation sequencing, and it is being widely used in clinical settings. A 56-year-old woman suspected of having Lynch syndrome was identified as a BRCA2 pathogenic variant carrier by multigene panel testing. The patient was diagnosed with endometrial cancer at the age of 39 years, and total laparoscopic hysterectomy and bilateral salpingectomy were performed at the age of 49 years; however, bilateral oophorectomy was not performed at that time. As she had a family history of colorectal cancer and a history of endometrial cancer, Lynch syndrome was suspected. However, germline multigene panel testing revealed a pathogenic BRCA2 variant rather than pathogenic variants in mismatch repair genes. In this case, with conventional genetic risk assessment, we were unable to determine whether the patient had a high risk of hereditary breast and ovarian cancer; thus, germline multigene panel testing may provide valuable information to improve disease management strategies for patients in clinical settings. Particularly, germline multigene panel testing may be useful for detecting hereditary tumor syndromes if a patient does not present with a typical family history of cancer.
Keywords
BRCA2
Hereditary breast and ovarian cancer
Multigene panel testing
Genetic counseling
Lynch syndrome
Published Date
2020-10-09
Publication Title
International Cancer Conference Journal
Publisher
Springer
ISSN
2192-3183
Content Type
Journal Article
language
英語
OAI-PMH Set
岡山大学
Copyright Holders
© Author(s)
File Version
publisher
DOI
Web of Science KeyUT
Related Url
isVersionOf https://doi.org/10.1007/s13691-020-00449-9
License
https://creativecommons.org/licenses/by/4.0/
Funder Name
Japan Society for the Promotion of Science
Japan Agency for Medical Research and Development
助成番号
17K19611
18K09298
15ck0106097 h0102
15cK0106168 h0201
Open Access (Publisher)
OA