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dc.contributor.authorLawrie, Aen_US
dc.contributor.authorHan, Sen_US
dc.contributor.authorSud, Aen_US
dc.contributor.authorHosking, Fen_US
dc.contributor.authorCezard, Ten_US
dc.contributor.authorTurner, Den_US
dc.contributor.authorClark, Cen_US
dc.contributor.authorMurray, GIen_US
dc.contributor.authorCulligan, DJen_US
dc.contributor.authorHoulston, RSen_US
dc.contributor.authorVickers, MAen_US
dc.coverage.spatialUnited Statesen_US
dc.date.accessioned2018-05-22T08:27:08Z
dc.date.issued2018-04-17en_US
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/29755658en_US
dc.identifier24872en_US
dc.identifier.citationOncotarget, 2018, 9 (29), pp. 20377 - 20385en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1680
dc.identifier.eissn1949-2553en_US
dc.identifier.doi10.18632/oncotarget.24872en_US
dc.description.abstractThe heritability of classical Hodgkin lymphoma (cHL) has yet to be fully deciphered. We report a family with five members diagnosed with nodular sclerosis cHL. Genetic analysis of the family provided evidence of linkage at chromosomes 2q35-37, 3p14-22 and 21q22, with logarithm of odds score >2. We excluded the possibility of common genetic variation influencing cHL risk at regions of linkage, by analysing GWAS data from 2,201 cHL cases and 12,460 controls. Whole exome sequencing of affected family members identified the shared missense mutations p.(Arg76Gln) in FAM107A and p.(Thr220Ala) in SLC26A6 at 3p21 as being predicted to impact on protein function. FAM107A expression was shown to be low or absent in lymphoblastoid cell lines and SLC26A6 expression lower in lymphoblastoid cell lines derived from p.(Thr220Ala) mutation carriers. Expression of FAM107A and SLC26A6 was low or absent in Hodgkin Reed-Sternberg (HRS) cell lines and in HRS cells in Hodgkin lymphoma tissue. No sequence variants were detected in KLHDC8B, a gene previously suggested as a cause of familial cHL linked to 3p21. Our findings provide evidence for candidate gene susceptibility to familial cHL.en_US
dc.format.extent20377 - 20385en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.subjectHodgkin lymphomaen_US
dc.subjectcanceren_US
dc.subjectgeneticsen_US
dc.subjectlymphomaen_US
dc.subjectmutationen_US
dc.titleCombined linkage and association analysis of classical Hodgkin lymphoma.en_US
dc.typeJournal Article
dcterms.dateAccepted2018-03-01en_US
rioxxterms.versionofrecord10.18632/oncotarget.24872en_US
rioxxterms.licenseref.startdate2018-04-17en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfOncotargeten_US
pubs.issue29en_US
pubs.notesNot knownen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics
pubs.publication-statusPublished onlineen_US
pubs.volume9en_US
pubs.embargo.termsNot knownen_US
icr.researchteamMolecular & Population Geneticsen_US
dc.contributor.icrauthorSud, Amiten_US


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