Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia

Clinical criteria for genetic testing of genes other thanBRCA1/2in epithelial ovarian cancer (EOC) still do not exist. We assessed the frequency and predictors of deleterious mutations in 19 cancer predisposition genes in high-grade serous ovarian cancer (HGSOC) in Serbia. Next-generation sequencing was used to identify germline mutations in the whole coding regions of a gene panel. Patients’ characteristics and sequencing data were summarized with descriptive statistics and compared using chi-square test. Among 131 HGSOC patients, 23 hadBRCA1(17.6%) while 5 hadBRCA2(3.8%) mutation. In addition, 9 (6.9%) pathogenic mutations were detected in other genes includingBRIP1(n = 2;1.5%),CHEK2(n = 2;1.5%),NBN(n = 3;2.3%) andRAD51C(n = 2;1.5%). Factors that predicted forBRCA1/2mutations were: breast and ovarian cancers in the same patient (p = 0.031), young age of EOC (p = 0.029), menstrual status (p = 0.004) and family history of cancer (p BRCA1/2mutation carriers but will not help identify mutations in other cancer susceptibility genes. Until better predictors emerge we should be performing wider genetic testing of EOC in order to identify all mutation carriers.