title: [Breast cancer in BRCA1/2 mutation carriers].
abstract: Inherited mutations in BRCA1 and BRCA2 genes represent the most important cause of hereditary breast cancer. This highly penetrating familial cancer syndrome, including also the onset of ovarian cancer and other malignancies at relatively low age, represents a substantial medical problem. The affected families should be managed actively. When compared to spontaneous tumors, the breast carcinomas in BRCA1 mutation carriers exhibit a relatively different, despite non-specific, phenotype (often triple negative, medullary features) arousing suspicion of hereditary background. In the contrary, the distribution of phenotypes of breast carcinomas in BRCA2 carriers is similar to distribution in the non-affected population. The lymphocytic lobulitis is observed significantly more often in non-cancerous breast tissue of BRCA1/2 mutation carriers, but again, this feature is not specific.
authors.forename: Pavel
authors.initials: P
authors.lastname: Fabian
authors.forename: Rudolf
authors.initials: R
authors.lastname: Nenutil
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: breast cancer - BRCA1 - BRCA2 - morphology - phenotype.