title: A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
abstract: Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for few common mutations, the spectrum of BRCA1 and BRCA2 mutations is heterogeneous in diverse populations. 185AGdel and 5382insC are the most important BRCA1 and BRCA2 alterations which have been encountered in most of the populations. After those Ashkenazi founder mutations, 300T>G also demonstrated sparse frequency in African American and European populations. This review affords quick access to the most frequent alterations among various populations which could be helpful in BRCA screening programs.
authors: Department of Medical Genetics, Tehran University of Medical Sciences, School of Medicine, Tehran, Iran.
authors: Fatemeh
authors: F
authors: Karami
authors: Parvin
authors: P
authors: Mehdipour
mesh_terms: D019313:BRCA1 Protein / Q000737:chemistry / Q000235:genetics; D024682:BRCA2 Protein / Q000737:chemistry / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D016254:Mutagenesis, Insertional; D050505:Mutant Proteins / Q000737:chemistry / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D050505:Mutant Proteins