title: Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.
abstract: The rapid clinical embrace of next generation multigene cancer predisposition panels has resulted in discovery of DNA variants in genes for which very limited data on penetrance has been published. Evidence for increased risks associated with these genes is often expressed in odds ratios and studies often were conducted on a priori high risk cohorts, i.e. those with young onset disease and/or positive family histories. Despite these limitations, one can estimate cumulative risks, which may be useful for health care providers who are counselling individuals on their results. We present cumulative risks for several under-studied genes and provide generic information that can be extrapolated to data still emerging.
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, 13400 East Shea Blvd., Scottsdale, AZ, USA. nlindor@mayo.edu.
authors.forename: Noralane M
authors.initials: NM
authors.lastname: Lindor
authors.affiliation: Melbourne School of Population and Global Health, University of Melbourne, Parkville, VIC, 3010, Australia.
authors.forename: John
authors.initials: J
authors.lastname: Hopper
authors.affiliation: Melbourne School of Population and Global Health, University of Melbourne, Parkville, VIC, 3010, Australia.
authors.forename: James
authors.initials: J
authors.lastname: Dowty
mesh_terms: D017766:Acid Anhydride Hydrolases; D000367:Age Factors; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics; D045643:DNA Repair Enzymes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D051856:Fanconi Anemia Complementation Group Proteins; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D015201:Meta-Analysis as Topic; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D016017:Odds Ratio; D019683:Penetrance; D020365:RNA Helicases / Q000235:genetics; D053484:RecQ Helicases / Q000235:genetics; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins; D017766:Acid Anhydride Hydrolases; C112158:RAD50 protein, human; C097151:Bloom syndrome protein; C506725:RECQL protein, human; D053484:RecQ Helicases; C000618935:BRIP1 protein, human; D020365:RNA Helicases; D045643:DNA Repair Enzymes
keywords: Cancer panels; Hazard ratios; Hereditary breast cancer; Nextgen; Odds ratios; Penetrance