Show simple item record

dc.contributor.authorTeerlink, CC
dc.contributor.authorLeongamornlert, D
dc.contributor.authorDadaev, T
dc.contributor.authorThomas, A
dc.contributor.authorFarnham, J
dc.contributor.authorStephenson, RA
dc.contributor.authorRiska, S
dc.contributor.authorMcDonnell, SK
dc.contributor.authorSchaid, DJ
dc.contributor.authorCatalona, WJ
dc.contributor.authorZheng, SL
dc.contributor.authorCooney, KA
dc.contributor.authorRay, AM
dc.contributor.authorZuhlke, KA
dc.contributor.authorLange, EM
dc.contributor.authorGiles, GG
dc.contributor.authorSouthey, MC
dc.contributor.authorFitzgerald, LM
dc.contributor.authorRinckleb, A
dc.contributor.authorLuedeke, M
dc.contributor.authorMaier, C
dc.contributor.authorStanford, JL
dc.contributor.authorOstrander, EA
dc.contributor.authorKaikkonen, EM
dc.contributor.authorSipeky, C
dc.contributor.authorTammela, T
dc.contributor.authorSchleutker, J
dc.contributor.authorWiley, KE
dc.contributor.authorIsaacs, SD
dc.contributor.authorWalsh, PC
dc.contributor.authorIsaacs, WB
dc.contributor.authorXu, J
dc.contributor.authorCancel-Tassin, G
dc.contributor.authorCussenot, O
dc.contributor.authorMandal, D
dc.contributor.authorLaurie, C
dc.contributor.authorLaurie, C
dc.contributor.authorPRACTICAL consortium
dc.contributor.authorInternational Consortium for Prostate Cancer Genetics
dc.contributor.authorThibodeau, SN
dc.contributor.authorEeles, RA
dc.contributor.authorKote-Jarai, Z
dc.contributor.authorCannon-Albright, L
dc.date.accessioned2016-11-18T16:23:13Z
dc.date.issued2016-08
dc.identifier.citationHuman genetics, 2016, 135 (8), pp. 923 - 938
dc.identifier.issn0340-6717
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/214
dc.identifier.eissn1432-1203
dc.identifier.doi10.1007/s00439-016-1690-6
dc.description.abstractPrevious genome-wide association studies (GWAS) of prostate cancer risk focused on cases unselected for family history and have reported over 100 significant associations. The International Consortium for Prostate Cancer Genetics (ICPCG) has now performed a GWAS of 2511 (unrelated) familial prostate cancer cases and 1382 unaffected controls from 12 member sites. All samples were genotyped on the Illumina 5M+exome single nucleotide polymorphism (SNP) platform. The GWAS identified a significant evidence for association for SNPs in six regions previously associated with prostate cancer in population-based cohorts, including 3q26.2, 6q25.3, 8q24.21, 10q11.23, 11q13.3, and 17q12. Of note, SNP rs138042437 (p = 1.7e(-8)) at 8q24.21 achieved a large estimated effect size in this cohort (odds ratio = 13.3). 116 previously sampled affected relatives of 62 risk-allele carriers from the GWAS cohort were genotyped for this SNP, identifying 78 additional affected carriers in 62 pedigrees. A test for an excess number of affected carriers among relatives exhibited strong evidence for co-segregation of the variant with disease (p = 8.5e(-11)). The majority (92 %) of risk-allele carriers at rs138042437 had a consistent estimated haplotype spanning approximately 100 kb of 8q24.21 that contained the minor alleles of three rare SNPs (dosage minor allele frequencies <1.7 %), rs183373024 (PRNCR1), previously associated SNP rs188140481, and rs138042437 (CASC19). Strong evidence for co-segregation of a SNP on the haplotype further characterizes the haplotype as a prostate cancer predisposition locus.
dc.formatPrint-Electronic
dc.format.extent923 - 938
dc.languageeng
dc.language.isoeng
dc.subjectPRACTICAL consortium
dc.subjectInternational Consortium for Prostate Cancer Genetics
dc.subjectHumans
dc.subjectProstatic Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectTumor Suppressor Proteins
dc.subjectRisk Factors
dc.subjectPedigree
dc.subjectGene Frequency
dc.subjectGenotype
dc.subjectHaplotypes
dc.subjectHeterozygote
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectMale
dc.subjectGenome-Wide Association Study
dc.subjectRNA, Long Noncoding
dc.titleGenome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21.
dc.typeJournal Article
dcterms.dateAccepted2016-05-26
rioxxterms.versionofrecord10.1007/s00439-016-1690-6
rioxxterms.licenseref.startdate2016-08
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfHuman genetics
pubs.issue8
pubs.notesNot known
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/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
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/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.publication-statusPublished
pubs.volume135
pubs.embargo.termsNot known
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorEeles, Rosalinden
dc.contributor.icrauthorKote-Jarai, Zsofiaen


Files in this item

Thumbnail

This item appears in the following collection(s)

Show simple item record