title: BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.
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.
authors.affiliation: Centre for Cancer Genetics, Department of Pathology and Laboratory Medicine, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Yazici
authors.forename: O
authors.initials: O
authors.lastname: Bitisik
authors.forename: E
authors.initials: E
authors.lastname: Akisik
authors.forename: N
authors.initials: N
authors.lastname: Cabioglu
authors.forename: P
authors.initials: P
authors.lastname: Saip
authors.forename: M
authors.initials: M
authors.lastname: Muslumanoglu
authors.forename: G
authors.initials: G
authors.lastname: Glendon
authors.forename: E
authors.initials: E
authors.lastname: Bengisu
authors.forename: S
authors.initials: S
authors.lastname: Ozbilen
authors.forename: M
authors.initials: M
authors.lastname: Dincer
authors.forename: S
authors.initials: S
authors.lastname: Turkmen
authors.forename: I L
authors.initials: IL
authors.lastname: Andrulis
authors.forename: N
authors.initials: N
authors.lastname: Dalay
authors.forename: H
authors.initials: H
authors.lastname: Ozcelik
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006801:Humans; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000208:ethnology / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014421:Turkey / Q000208:ethnology
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D014157:Transcription Factors