Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome
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CASE REPORT
Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome Tomoko Yoshihama1 · Akira Hirasawa1,2,3 · Kokichi Sugano3,4,5 · Teruhiko Yoshida5 · Mineko Ushiama5 · Arisa Ueki3 · Tomoko Akahane1 · Yoshiko Nanki1 · Kensuke Sakai1 · Takeshi Makabe1 · Wataru Yamagami1 · Nobuyuki Susumu1,6 · Kaori Kameyama7 · Kenjiro Kosaki3 · Daisuke Aoki1 Received: 29 June 2020 / Accepted: 22 September 2020 © The Author(s) 2020
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
Introduction
* Akira Hirasawa hir‑[email protected] 1
Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan
2
Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2‑5‑1 Shikata‑cho, Kita‑ku, Okayama 700‑8558, Japan
3
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
4
Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan
5
Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan
6
Department of Obstetrics and Gynecology, International University of Health and Welfare, Chiba, Japan
7
Department of Pathology, Showa University Northern Yokohama Hospital, Kanagawa, Japan
During recent years, there has been a rapid advance in genetic testing techniques such as next-generation sequencing, and they are being increasingly used in clinical practice, rather than conventional single-gene analysis [1]. Multigene panel testing by next-generation sequencing enables simultaneous analysis of multiple genes of interest at a lower cost than conventional techniqu
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