title: Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil.
abstract: Hereditary breast cancer (HBC) accounts for 5-10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.
authors.affiliation: Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil. edenirip@yahoo.com.br
authors.forename: Edenir Inez
authors.initials: EI
authors.lastname: Palmero
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla
authors.forename: José Cláudio C
authors.initials: JC
authors.lastname: da Rocha
authors.forename: Fernando Regla
authors.initials: FR
authors.lastname: Vargas
authors.forename: Luciane
authors.initials: L
authors.lastname: Kalakun
authors.forename: Melissa Brauner
authors.initials: MB
authors.lastname: Blom
authors.forename: Sérgio J
authors.initials: SJ
authors.lastname: Azevedo
authors.forename: Maira
authors.initials: M
authors.lastname: Caleffi
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Lavinia
authors.initials: L
authors.lastname: Schüler-Faccini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins; D024682:BRCA2 Protein / Q000235:genetics*; D001938:Brazil; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics; D011336:Probability; D012306:Risk; D018570:Risk Assessment; D012959:Socioeconomic Factors; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D051017:Apoptosis Regulatory Proteins; C118024:BLID protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases