Show simple item record

dc.contributor.authorWhitworth, Jamesen
dc.contributor.authorSkytte, Anne-Bineen
dc.contributor.authorSunde, Loneen
dc.contributor.authorLim, Derek Hen
dc.contributor.authorArends, Mark Jen
dc.contributor.authorHapperfield, Lisaen
dc.contributor.authorFrayling, Ian Men
dc.contributor.authorvan, Minkelen Ricken
dc.contributor.authorWoodward, Emma Ren
dc.contributor.authorTischkowitz, Marcen
dc.contributor.authorMaher, Eamonnen
dc.date.accessioned2016-03-23T16:04:05Z
dc.date.available2016-03-23T16:04:05Z
dc.date.issued2015-12-10en
dc.identifier.citationJAMA Oncology 2016 2(3): 373-379. doi: 10.1001/jamaoncol.2015.4771en
dc.identifier.issn2374-2437
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/254644
dc.description.abstractMendelian causes of inherited cancer susceptibility are mostly rare and characterized by variable expression and incomplete penetrance. Phenotypic variability may result from a range of causes including locus heterogeneity, allelic heterogeneity, genetic and environmental modifier effects or chance. Another potential cause is the presence of two or more inherited cancer predisposition alleles in the same individual. Though the frequency of such occurrences might be predicted to be low, such cases have probably been under ascertained because standard clinical practice has been to test candidate inherited cancer genes sequentially until a pathogenic mutation is detected. However, recent advances in next generation sequencing technologies now provide the opportunity to perform simultaneous parallel testing of large numbers of inherited cancer genes. Here we provide examples of patients who harbor pathogenic mutations in multiple inherited cancer genes and review previously published examples to illustrate the complex genotype-phenotype relationships in these cases. We suggest that clinicians should proactively consider the likelihood of this phenomenon (referred to here as Multilocus Inherited Neoplasia Alleles Syndrome (MINAS)) in patients with unusual inherited cancer syndrome phenotypes. To facilitate the clinical management of novel cases of MINAS we have established a database to collect information on what is likely to be an increasingly recognized cohort of such individuals.
dc.description.sponsorshipJ Whitworth is supported by the Cambridge Biomedical Research Campus. E Maher is supported by the Cambridge Biomedical Research Campus and a European Research Council researcher award.
dc.languageEnglishen
dc.language.isoenen
dc.publisherAmerican Medical Association
dc.titleMultilocus Inherited Neoplasia Alleles Syndrome (MINAS): Case Series and Literature Reviewen
dc.typeArticle
dc.description.versionThis is a metadata record relating to an article that cannot be shared due to publisher copyright.en
prism.endingPage379
prism.publicationDate2015en
prism.publicationNameJAMA Oncologyen
prism.startingPage373
prism.volume2en
rioxxterms.versionofrecord10.1001/jamaoncol.2015.4771en
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2015-12-10en
dc.contributor.orcidWhitworth, James [0000-0002-3682-2298]
dc.contributor.orcidTischkowitz, Marc [0000-0002-7880-0628]
dc.contributor.orcidMaher, Eamonn [0000-0002-6226-6918]
dc.identifier.eissn2374-2445
rioxxterms.typeJournal Article/Reviewen


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record