title: Analysis of novel mutations in BRCA1 in Iranian families with breast cancer.
abstract: In Iran and the rest of the world, breast cancer (BC) is the most common malignancy in women. Familial history and age are significant risk factors for the development of this disease in Iran. Most hereditary BCs are associated with inherited mutations in the BRCA1 and BRCA2 genes. Some recent studies demonstrated that BRCA1 mutations are seen in high-risk women with family histories of BC. In this report we investigated all BRCA1 exons from 40 female patients with family histories of BC and one BC twin, and report a novel mutation in this gene in one patient. As controls, BRCA1 exons from 100 normal women and the BC-free twin of the BC twin were also examined for this mutation. None of the women in the normal group harbored the mutation. Whether this variation is specific for the Iranian population or for special subgroups remains to be determined.
authors.affiliation: Cellular and Molecular Biology Research Department, ACECR-Mashhad Branch, Iran; Department of Medical Genetics, Mashhad University of Medical Science, Iran; Medical Genetic Research Centre (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Ariane
authors.initials: A
authors.lastname: Sadr-Nabavi
authors.forename: Mahtab
authors.initials: M
authors.lastname: Dastpak
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Homaei-Shandiz
authors.forename: Ahmad Reza
authors.initials: AR
authors.lastname: Bahrami
authors.forename: Hamid-Reza
authors.initials: HR
authors.lastname: Bidkhori
authors.forename: Mahmood
authors.initials: M
authors.lastname: Raeesolmohaddeseen
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000032:analysis / Q000235:genetics; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007492:Iran; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D004247:DNA