title: Evaluating breast cancer risk: available models to assess individual breast cancer risk and probability to be a BRCA mutation carrier.
abstract: Several models have been generated to estimate breast cancer risk and to predict the probability to identify a BRCA1 or BRCA2 germ line mutation. Each model, based on a slightly different study design and purpose, takes into account a definite number of relevant parameters and ultimately pertains to a specific cohort of women or population. Aim of this work is to underline validity and limits of available tools and their appropriate use in the daily practice.
authors.affiliation: Dipartimento di Genetica, Biologia e Biochimica, Università di Torino, Torino, Italy. barbara.pasini@unito.it
authors.forename: B
authors.initials: B
authors.lastname: Pasini
authors.forename: G C
authors.initials: GC
authors.lastname: Casalis Cavalchini
authors.forename: T
authors.initials: T
authors.lastname: Genovese
authors.forename: S
authors.initials: S
authors.lastname: Manoukian
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D015233:Models, Statistical; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D011336:Probability; D012306:Risk; D012307:Risk Factors