2020年10月
Germline multigene panel testing revealed aBRCA2pathogenic variant in a patient with suspected Lynch syndrome
INTERNATIONAL CANCER CONFERENCE JOURNAL
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1007/s13691-020-00449-9
- 出版者・発行元
- SPRINGER INTERNATIONAL PUBLISHING AG
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 aBRCA2pathogenic 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 pathogenicBRCA2variant 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.
- リンク情報
- ID情報
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- DOI : 10.1007/s13691-020-00449-9
- ISSN : 2192-3183
- Web of Science ID : WOS:000578322300001