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

International Cancer Conference Journal - Tập 10 Số 1 - Trang 6-10 - 2021
Tomoko Yoshihama1, Akira Hirasawa2,3, Kokichi Sugano2,4,5, Teruhiko Yoshida4, Mineko Ushiama4, Arisa Ueki2, Tomoko Akahane1, Yoshiko Nanki1, Kensuke Sakai1, Takeshi Makabe1, Wataru Yamagami1, Nobuyuki Susumu6,1, Kaori Kameyama7, Kenjiro Kosaki2, Daisuke Aoki1
1Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan
2Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
3Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan
4Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan
5Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan
6Department of Obstetrics and Gynecology, International University of Health and Welfare, Chiba, Japan
7Department of Pathology, Showa University Northern Yokohama Hospital, Kanagawa, Japan

Tóm tắt

AbstractThere 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.

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International Cancer Conference Journal

Tập 10 Số 1

6-10

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