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dc.contributor.authorGrolleman, Judith E.
dc.contributor.authorde Voer, Richarda M.
dc.contributor.authorElsayed, Fadwa A.
dc.contributor.authorNielsen, Maartje
dc.contributor.authorWeren, Robbert D.A.
dc.contributor.authorPalles, Claire
dc.contributor.authorLigtenberg, Marjolijn J.L.
dc.contributor.authorVos, Janet R.
dc.contributor.authorten Broeke, Sanne W.
dc.contributor.authorde Miranda, Noel F.C.C.
dc.contributor.authorKuiper, Renske A.
dc.contributor.authorKamping, Eveline J.
dc.contributor.authorJansen, Erik A.M.
dc.contributor.authorVink-Börger, M. Elisa
dc.contributor.authorPopp, Isabell
dc.contributor.authorLang, Alois
dc.contributor.authorSpier, Isabel
dc.contributor.authorHüneburg, Robert
dc.contributor.authorJames, Paul A.
dc.contributor.authorLi, Na
dc.contributor.authorStaninova, Marija
dc.contributor.authorLindsay, Helen
dc.contributor.authorCockburn, David
dc.contributor.authorSpasic-Boskovic, Olivera
dc.contributor.authorClendenning, Mark
dc.contributor.authorSweet, Kevin
dc.contributor.authorCapellá, Gabriel
dc.contributor.authorSjursen, Wenche
dc.contributor.authorVetti, Hildegunn Høberg
dc.contributor.authorJongmans, Marjolijn C.
dc.contributor.authorNeveling, Kornelia
dc.contributor.authorvan Kessel, Ad Geurts
dc.contributor.authorMorreau, Hans
dc.contributor.authorHes, Frederik J.
dc.contributor.authorSijmons, Rolf H.
dc.contributor.authorSchackert, Hans K.
dc.contributor.authorRuiz-Ponte, Clara
dc.contributor.authorDymerska, Dagmara
dc.contributor.authorLubiñski, Jan
dc.contributor.authorRivera, Barbara
dc.contributor.authorFoulkes, William D.
dc.contributor.authorTomlinson, Ian P.
dc.contributor.authorValle, Laura
dc.contributor.authorBuchanan, Daniel D.
dc.contributor.authorKenwrick, Sue
dc.contributor.authorAdlard, Julian
dc.contributor.authorDimovski, Aleksandar J.
dc.contributor.authorCampbell, Ian G.
dc.contributor.authorAretz, Stefan
dc.contributor.authorSchindler, Detlev
dc.contributor.authorvan Wezel, Tom
dc.contributor.authorHoogerbrugge, Nicoline
dc.contributor.authorKuiper, Roland P.
dc.date.accessioned2020-04-14T13:30:37Z
dc.date.available2020-04-14T13:30:37Z
dc.date.created2019-04-17T12:53:31Z
dc.date.issued2019
dc.identifier.citationCancer Cell. 2019, 35 (2), 256-266.e5.en_US
dc.identifier.issn1535-6108
dc.identifier.urihttps://hdl.handle.net/11250/2651034
dc.description.abstractBiallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations from 17 families, of which 26 developed one (n = 10) or multiple (n = 16) malignancies in 14 different tissues. An unexpected high breast cancer incidence was observed in female carriers (60%). Mutational signature analysis of 14 tumors from 7 organs revealed that NTHL1 deficiency underlies the main mutational process in all but one of the tumors (93%). These results reveal NTHL1 as a multi-tumor predisposition gene with a high lifetime risk for extracolonic cancers and a typical mutational signature observed across tumor types, which can assist in the recognition of this syndrome.en_US
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.titleMutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotypeen_US
dc.typePeer revieweden_US
dc.typeJournal articleen_US
dc.description.versionpublishedVersionen_US
dc.source.pagenumber256-266.e5en_US
dc.source.volume35en_US
dc.source.journalCancer Cellen_US
dc.source.issue2en_US
dc.identifier.doi10.1016/j.ccell.2018.12.011
dc.identifier.cristin1693077
dc.description.localcode© 2018 Elsevier Inc. Under an Elsevier user license. https://www.elsevier.com/about/policies/open-access-licenses/elsevier-user-licenseen_US
cristin.unitcode194,65,15,0
cristin.unitcode1920,14,0,0
cristin.unitnameInstitutt for klinisk og molekylær medisin
cristin.unitnameLaboratoriemedisinsk klinikk
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2


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