1. Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia
- Author
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Aljosa Mandic, Zorica I. Tomasevic, Mirjana Branković-Magić, Zvonko Magic, Stevo Jovandic, Ana Krivokuca, and Ivana Boljevic
- Subjects
0301 basic medicine ,Oncology ,endocrine system diseases ,Cell Cycle Proteins ,HGSOC patients ,030105 genetics & heredity ,medicine.disease_cause ,NBN ,Family history ,Genetics (clinical) ,Ovarian Neoplasms ,Mutation ,medicine.diagnostic_test ,RAD51C ,BRCA1 Protein ,High-Throughput Nucleotide Sequencing ,Nuclear Proteins ,Middle Aged ,Fanconi Anemia Complementation Group Proteins ,3. Good health ,DNA-Binding Proteins ,Female ,Serbia ,RNA Helicases ,Adult ,medicine.medical_specialty ,BRIP1 ,03 medical and health sciences ,Germline mutation ,BRCA1/2 ,Internal medicine ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,epitelial ovarian cancer (EOC) ,Genetic Testing ,CHEK2 ,Germ-Line Mutation ,Genetic testing ,gene mutations ,Aged ,BRCA2 Protein ,business.industry ,Cancer ,medicine.disease ,Checkpoint Kinase 2 ,030104 developmental biology ,Neoplasm Grading ,business - Abstract
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.
- Published
- 2018