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Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel
- Source :
- Breast cancer research and treatment. 155(1)
- Publication Year :
- 2015
-
Abstract
- We evaluated the clinical utility of screening for mutations in 34 breast/ovarian cancer susceptibility genes in high-risk families in Israel. Participants were recruited from 12, 2012 to 6, 2015 from 8 medical centers. All participants had high breast/ovarian cancer risk based on personal and family history. Genotyping was performed with the InVitae™ platform. The study was approved by the ethics committees of the participating centers; all participants gave a written informed consent before entering the study. Overall, 282 individuals participated in the study: 149 (53 %) of Ashkenazi descent, 80 (28 %) Jewish non-Ashkenazi descent, 22 (8 %) of mixed Ashkenazi/non-Ashkenazi origin, 21 (7 %) were non-Jewish Caucasians, and the remaining patients (n = 10–3.5 %) were of Christian Arabs/Druze/unknown ethnicity. For breast cancer patients (n = 165), the median (range) age at diagnosis was 46 (22–90) years and for ovarian cancer (n = 15) 54 (38–69) years. Overall, 30 cases (10.6 %) were found to carry a pathogenic actionable mutation in the tested genes: 10 BRCA1 (3 non-founder mutations), 9 BRCA2 (8 non-founder mutations), and one each in the RAD51C and CHEK2 genes. Furthermore, actionable mutations were detected in 9 more cases in 4 additional genes (MSH2, RET, MSH6, and APC). No pathogenic mutations were detected in the other genotyped genes. In this high-risk population, 10.6 % harbored an actionable pathogenic mutation, including non-founder mutations in BRCA1/2 and in additional cancer susceptibility genes, suggesting that high-risk families should be genotyped and be assigned a genotype-based cancer risk.
- Subjects :
- 0301 basic medicine
Oncology
Male
Cancer Research
medicine.medical_specialty
endocrine system diseases
Population
Bioinformatics
03 medical and health sciences
0302 clinical medicine
Breast cancer
Germline mutation
Internal medicine
Genotype
medicine
Humans
Mass Screening
Family
Genetic Predisposition to Disease
Genetic Testing
Family history
Israel
skin and connective tissue diseases
education
CHEK2
Germ-Line Mutation
education.field_of_study
business.industry
medicine.disease
030104 developmental biology
MSH2
030220 oncology & carcinogenesis
Hereditary Breast and Ovarian Cancer Syndrome
Female
business
Ovarian cancer
Subjects
Details
- ISSN :
- 15737217
- Volume :
- 155
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Breast cancer research and treatment
- Accession number :
- edsair.doi.dedup.....fbe0c0b3fb90641809f6e2cbe219eade