title: Clinical implications of genomics for cancer risk genetics.
abstract: The study of human genetics has provided substantial insight into cancer biology. With an increase in sequencing capacity and a reduction in sequencing costs, genomics will probably transform clinical cancer genetics. A heritable basis for many cancers is accepted, but so far less than half the genetic drivers have been identified. Genomics will increasingly be applied to populations irrespective of family history, which will change the framework of phenotype-directed genetic testing. Panel testing and whole genome sequencing will identify novel, polygenic, and de-novo determinants of cancer risk, often with lower penetrance, which will challenge present binary clinical classification systems and management algorithms. In the future, genotype-stratified public screening and prevention programmes could form part of tailored population risk management. The integration of research with clinical practice will result in so-called discovery cohorts that will help identify clinically significant genetic variation.
authors.affiliation: The Kinghorn Cancer Centre and Cancer Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Research Division, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia. Electronic address: d.thomas@garvan.org.au.
authors.forename: David M
authors.initials: DM
authors.lastname: Thomas
authors.affiliation: Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
authors.forename: Paul A
authors.initials: PA
authors.lastname: James
authors.affiliation: Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Research Division, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
authors.forename: Mandy L
authors.initials: ML
authors.lastname: Ballinger
mesh_terms: D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D012307:Risk Factors