title: [Risk assessment in familial breast cancer].
abstract: Women with a history of breast cancer are common at centers for cancer genetic risk all over Europe. Given limited health care resources, managing this demand, while achieving good value for money coming from health services, is generally a major challenge. This paper recapitulates and summarizes the available methods of the risk assessment of familial breast cancer. After a systematic review of the literature Gail-model, Claus-model and BOADICEA-model were selected, as well as softwares (LINKAGE software; MENDEL v3.3 software) available in the application of these algorhythms are also summarized. Comparisons were made between the models concerning their advantages and disadvantages. The really reliable methods of risk estimation of familial breast cancer are always based on the analysis of the pedigree structure and allow the estimation of the patient's probability of carrying a susceptibility gene under a particular genetic model, given her family history. For this method the knowledge of BRCA mutation status is absolutely indispensable. The methods of BRCA mutation analysis as well as the main characteristics of the occurrence of BRCA mutation carrier condition are discussed in details.
authors.affiliation: Semmelweis Egyetem, Általános Orvostudományi Kar I. Szülészeti és Nőgyógyászati Klinika Budapest Baross u. 27. 1088. joogabor@hotmail.com
authors.forename: József Gábor
authors.initials: JG
authors.lastname: Joó
authors.forename: Mónika
authors.initials: M
authors.lastname: Csanád
authors.forename: Katalin
authors.initials: K
authors.lastname: Tóth
authors.forename: Szabolcs
authors.initials: S
authors.lastname: Máté
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Nagy
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D019683:Penetrance; D018570:Risk Assessment; D012307:Risk Factors