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

Autor: Wataru Yamagami, Tomoko Yoshihama, Akira Hirasawa, Kenjiro Kosaki, Daisuke Aoki, Kaori Kameyama, Tomoko Akahane, Nobuyuki Susumu, Takeshi Makabe, Teruhiko Yoshida, Kokichi Sugano, Mineko Ushiama, Yoshiko Nanki, Kensuke Sakai, Arisa Ueki
Rok vydání: 2020
Předmět:
Zdroj: International Cancer Conference Journal
ISSN: 2192-3183
Popis: 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.
Databáze: OpenAIRE
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