Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients

Abstract Distribution and prevalence of germline mutations in BRCA1 and BRCA2 differ among different populations. For the Turkish population, several studies have addressed high-risk breast cancer and ovarian cancer (BC–OC) patients. In most studies, both genes were analyzed in part, and a quite het...

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Bibliographic Details
Published in:Cancer genetics and cytogenetics 2010-12, Vol.203 (2), p.230-237
Main Authors: Manguoğlu, Esra, Güran, Şefik, Yamaç, Deniz, Çolak, Taner, Şimşek, Mehmet, Baykara, Mehmet, Akaydn, Mustafa, Lüleci, Güven
Format: Article
Language:English
Subjects:
Breast Neoplasms - genetics
Chromatography, High Pressure Liquid
DNA Mutational Analysis
Electrophoresis - methods
Female
Genes, BRCA1
Genes, BRCA2
Germ-Line Mutation
Hematology, Oncology and Palliative Medicine
Humans
Male
Medical Education
Ovarian Neoplasms - genetics
Polymorphism, Genetic
Prostatic Neoplasms - genetics
Risk
Turkey
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Summary:Abstract Distribution and prevalence of germline mutations in BRCA1 and BRCA2 differ among different populations. For the Turkish population, several studies have addressed high-risk breast cancer and ovarian cancer (BC–OC) patients. In most studies, both genes were analyzed in part, and a quite heterogeneous mutation spectrum was observed. For high-risk Turkish prostate cancer (PCa) patients, however, there are no data available about mutations of germline BRCA genes. To accurately determine the contribution of germline mutations in BRCA1 and BRCA2 in Turkish BC, OC, and PCa high-risk patients, 106 high-risk BC–OC patients, 50 high-risk PCa patients, and 50 control subjects were recruited. The study represents the only full screening, to date, of a large series of Turkish high-risk BC–OC patients and the only study in Turkish high-risk PCa patients. Mutation screenings were performed on coding exons of both genes with either denaturing gradient gel electrophoresis or denaturing high performance liquid chromatography, or with both techniques. Three deleterious mutations in BRCA1 and three deleterious mutations in BRCA2 were detected in different BC–OC patients, and one truncating mutation was detected in a high-risk PCa patient. In addition, 28 different unclassified and mostly novel variants were detected in both genes, as well as several silent polymorphisms. These findings reflect the genetic heterogeneity of the Turkish population and are relevant to genetic counseling and clinical management.
ISSN:0165-4608
1873-4456
DOI:10.1016/j.cancergencyto.2010.07.125