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

Autor: Aljosa Mandic, Zorica I. Tomasevic, Mirjana Branković-Magić, Zvonko Magic, Stevo Jovandic, Ana Krivokuca, Ivana Boljevic
Rok vydání: 2018
Předmět:
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
Zdroj: Journal of human genetics. 64(4)
ISSN: 1435-232X
Popis: 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.
Databáze: OpenAIRE
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