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dc.contributor.authorDias, A
dc.contributor.authorKote-Jarai, Z
dc.contributor.authorMikropoulos, C
dc.contributor.authorEeles, R
dc.date.accessioned2019-04-11T10:17:04Z
dc.date.issued2018-09-04
dc.identifier.citationCold Spring Harbor perspectives in medicine, 2018, 8 (9)
dc.identifier.issn2157-1422
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3180
dc.identifier.eissn2157-1422
dc.identifier.doi10.1101/cshperspect.a030379
dc.description.abstractProstate cancer (PCa) is a highly heritable disease, and rapid evolution of sequencing technologies has enabled marked progression of our understanding of its genetic inheritance. A complex polygenic model that involves common low-penetrance susceptibility alleles causing individually small but cumulatively significant risk and rarer genetic variants causing greater risk represent the current most accepted model. Through genome-wide association studies, more than 100 single-nucleotide polymorphisms (SNPs) associated with PCa risk have been identified. Consistent reports have identified germline mutations in the genes BRCA1, BRCA2, MMR, HOXB13, CHEK2, and NBS1 as conferring moderate risks, with some leading to a more aggressive disease behavior. Considering this knowledge, several research strategies have been developed to determine whether targeted prostate screening using genetic information can overcome the limitations of population-based prostate-specific antigen (PSA) screening. Germline DNA-repair mutations are more frequent in men with metastatic disease than previously thought, and these patients have a more favorable response to therapy with poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitors. Genomic information is a practical tool that has the potential to enable the concept of precision medicine to become a reality in all steps of PCa patient care.
dc.formatElectronic
dc.languageeng
dc.language.isoeng
dc.publisherCOLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
dc.rights.urihttps://www.rioxx.net/licenses/under-embargo-all-rights-reserved
dc.subjectHumans
dc.subjectColorectal Neoplasms, Hereditary Nonpolyposis
dc.subjectProstatic Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectProstate-Specific Antigen
dc.subjectUbiquitin-Protein Ligases
dc.subjectCell Cycle Proteins
dc.subjectHomeodomain Proteins
dc.subjectBRCA2 Protein
dc.subjectNuclear Proteins
dc.subjectDNA Repair
dc.subjectGerm-Line Mutation
dc.subjectPolymorphism, Single Nucleotide
dc.subjectMale
dc.subjectEarly Detection of Cancer
dc.subjectGenome-Wide Association Study
dc.subjectMolecular Targeted Therapy
dc.subjectCheckpoint Kinase 2
dc.titleProstate Cancer Germline Variations and Implications for Screening and Treatment.
dc.typeJournal Article
dcterms.dateAccepted2018-09-04
rioxxterms.versionofrecord10.1101/cshperspect.a030379
rioxxterms.licenseref.urihttps://www.rioxx.net/licenses/under-embargo-all-rights-reserved
rioxxterms.licenseref.startdate2018-09-04
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfCold Spring Harbor perspectives in medicine
pubs.issue9
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.volume8
pubs.embargo.termsNot known
icr.researchteamOncogenetics
dc.contributor.icrauthorKote-Jarai, Zsofia
dc.contributor.icrauthorEeles, Rosalind


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