title: Risk assessment and presymptomatic molecular diagnosis in hereditary breast cancer.
abstract: Breast cancer susceptibility genes are being isolated at a rapid pace. Current molecular diagnostic techniques are being adapted to detect mutations in the germline and in tumors. The isolation of the breast and ovarian cancer gene 1 (BRCA1) has brought about the potential for screening large numbers of individuals for genetically increased susceptibility to breast cancer. The advantages and limitations of presymptomatic testing are discussed.
authors.affiliation: Department of Internal Medicine, University of Michigan, Ann Arbor, USA.
authors.forename: S D
authors.initials: SD
authors.lastname: Merajver
authors.forename: E M
authors.initials: EM
authors.lastname: Petty
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics / Q000473:pathology; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D005821:Genetic Techniques; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000473:pathology; D010051:Ovarian Neoplasms / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D018570:Risk Assessment
chemical_list: D004273:DNA, Neoplasm