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Open Access Special Issue

Germline multigene panel testing in gynecological cancer

  • Sayaka Ueno1,*,
  • Akira Hirasawa1

1Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, 700-8558 Okayama, Japan

DOI: 10.22514/ejgo.2022.008 Vol.43,Issue 3,June 2022 pp.25-35

Submitted: 20 March 2022 Accepted: 26 April 2022

Published: 15 June 2022

*Corresponding Author(s): Sayaka Ueno E-mail:


Multi-gene panel testing (MGPT) has become widely used in clinical practice. MGPT allows a set of genes to be tested simultaneously, making it a powerful, time- and cost-effective tool for detecting genetic variants. The purposes of identifying germline pathogenic variants is threefold: diagnosis, prevention, and treatment. Germline variants in certain genes cause hereditary tumor syndromes. Diagnosing hereditary tumors enable to predict the types of cancer that may develop in the future. The blood relatives of those diagnosed may also suffer from the same hereditary tumor syndrome. For such individuals, medical intervention tailored to their condition can reduce the incidence of cancer or help in cancer detection in the early stages. Diagnosis of hereditary tumors may also change the cancer treatment strategy for the diagnosed patient. To date, more than 100 genes have been found to have a predisposition to cancer. The type of cancer one develops, the risk of developing it, and the possible preventive strategy differs among genes. The association of some genes with cancer predisposition has not yet been fully confirmed. Nowadays, various types of MGPTs are available, and the genes included differ among the tests. In addition, no consensus has been reached on which genes to be included in MGPT. This review is aimed to summarize the advantages and limitations of MGPT along with some practical considerations while performing MGPT and the gynecological tumors associated with genes commonly included in MGPT.


multi-gene panel testing (MGPT); hereditary gynecological cancer; cancer predisposition genes; Lynch syndrome; Peutz-Jeghers syndrome; PTEN hamartoma tumor syndrome; BRCA-related breast/ovarian cancer syndrome; DICER1 syndrome; rhabdoid tumor predisposition syndrome; Gorlin-Goltz syndrome

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Sayaka Ueno,Akira Hirasawa. Germline multigene panel testing in gynecological cancer. European Journal of Gynaecological Oncology. 2022. 43(3);25-35.


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