Cancer Res Treat.  2018 Jul;50(3):917-925. 10.4143/crt.2017.220.

Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2

  • 1Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Seoul, Korea.
  • 2Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine, Seoul, Korea.
  • 3Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
  • 4Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.
  • 5Department of Medicine, Yonsei University College of Medicine, Seoul, Korea.
  • 6Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
  • 7Department of Obstetrics and Gynecology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.


Next-generation sequencing (NGS) allows simultaneous sequencing of multiple cancer susceptibility genes and may represent a more efficient and less expensive approach than sequential testing. We assessed the frequency of germline mutations in individuals with epithelial ovarian cancer (EOC), using multi-gene panels and NGS.
Patients with EOC (n=117) with/without a family history of breast or ovarian cancer were recruited consecutively, from March 2016 toDecember 2016.GermlineDNAwas sequenced using 35-gene NGS panel, in order to identify mutations. Upon the detection of a genetic alteration using the panel, results were cross-validated using direct sequencing.
Thirty-eight patients (32.5%) had 39 pathogenic or likely pathogenic mutations in eight genes, including BRCA1 (n=21), BRCA2 (n=10), BRIP1 (n=1), CHEK2 (n=2), MSH2 (n=1), POLE (n=1), RAD51C (n=2), and RAD51D (n=2). Among 64 patients with a family history of cancer, 27 (42.2%) had 27 pathogenic or likely pathogenic mutations, and six (9.3%) had mutations in genes other than BRCA1/2, such as CHECK2, MSH2, POLE, and RAD51C. Fifty-five patients (47.0%) were identified to carry only variants of uncertain significance.
Using the multi-gene panel test, we found that, of all patients included in our study, 32.5% had germline cancer-predisposing mutations. NGS was confirmed to substantially improve the detection rates of a wide spectrum of mutations in EOC patients compared with those obtained with the BRCA1/2 testing alone.


Ovarian epithelial cancer; Ethnicity; Germ-line mutation; Next-generation sequencing; Prevalence

MeSH Terms

Germ-Line Mutation*
Ovarian Neoplasms*
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