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BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients
- Source :
- British Journal of Cancer
- Publication Year :
- 2000
- Publisher :
- Springer Science and Business Media LLC, 2000.
-
Abstract
- To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of BRCA mutations in 53 individuals with a personal and family history of breast and/or ovarian cancer, and 52 individuals with a personal history of breast cancer diagnosed below age 50 without additional family history. We have identified 11 mutations (nine BRCA1 and two BRCA2) using combined techniques involving protein truncation test, direct sequencing and heteroduplex analysis. We found eight out of 53 patients (15.1%) with a family history to carry BRCA gene mutations (seven BRCA1 and one BRCA2). Of these, four were found in 43 families presenting only breast cancer histories, and four were found in families presenting ovarian cancer with or without breast cancer. We also demonstrated two BRCA1 and one BRCA2 mutations in three out of 52 (5.8%) early-onset breast cancer cases without additional family history. Three of nine BRCA1 and both BRCA2 mutations detected in this study were not reported previously. These mutations may be specific to the Turkish population. The BRCA1 5382insC mutation, specific to Ashkenazi and Russian populations, was found twice in our study group, representing a possible founder mutation in the Turkish population. © 2000 Cancer Research Campaign
- Subjects :
- Adult
Oncology
Cancer Research
medicine.medical_specialty
Turkish population
Turkey
PTT
endocrine system diseases
DNA Mutational Analysis
Breast Neoplasms
Gene mutation
Biology
medicine.disease_cause
Breast cancer
Internal medicine
medicine
Humans
Genetic Predisposition to Disease
Young adult
Family history
skin and connective tissue diseases
BRCA2 Protein
Ovarian Neoplasms
Mutation
BRCA1 Protein
Regular Article
DNA, Neoplasm
Middle Aged
BRCA1
mutations
breast and ovarian cancer
medicine.disease
BRCA2
female genital diseases and pregnancy complications
Neoplasm Proteins
Genetics, Population
Cancer research
Female
Ovarian cancer
Transcription Factors
Subjects
Details
- ISSN :
- 15321827 and 00070920
- Volume :
- 83
- Database :
- OpenAIRE
- Journal :
- British Journal of Cancer
- Accession number :
- edsair.doi.dedup.....c9a36ccab2bb19a0f9066d57824a7c71