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DC Field | Value | Language |
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dc.contributor.author | Southey M.C. | en |
dc.contributor.author | Tsimiklis H. | en |
dc.contributor.author | Winship I.M. | en |
dc.contributor.author | Giles G.G. | en |
dc.contributor.author | Milne R.L. | en |
dc.contributor.author | Hopper J.L. | en |
dc.contributor.author | Nguyen-dumont T.U. | en |
dc.contributor.author | Dowty J.G. | en |
dc.contributor.author | Steen J.A. | en |
dc.contributor.author | Renault A.-L. | en |
dc.contributor.author | Hammet F. | en |
dc.contributor.author | Mahmoodi M. | en |
dc.contributor.author | Theys D. | en |
dc.contributor.author | Rewse A. | en |
dc.date.accessioned | 2021-05-14T08:54:32Z | en |
dc.date.available | 2021-05-14T08:54:32Z | en |
dc.date.copyright | 2021 | en |
dc.date.created | 20210405 | en |
dc.date.issued | 2021-04-05 | en |
dc.identifier.citation | Cancers. 13 (6) (pp 1-11), 2021. Article Number: 1378. Date of Publication: 02 Mar 2021. | en |
dc.identifier.issn | 2072-6694 (electronic) | en |
dc.identifier.uri | https://repository.monashhealth.org/monashhealthjspui/handle/1/26785 | en |
dc.description.abstract | Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein-truncating variant CHEK2 c.1100delC dominates this estimate. There have been no formal estimates of age-specific cumulative risk of breast cancer for all CHEK2 pathogenic (in-cluding likely pathogenic) variants combined. We conducted a population-based case-control-fam-ily study of pathogenic CHEK2 variants (26 families, 1071 relatives) and estimated the age-specific cumulative risk of breast cancer using segregation analysis. The estimated hazard ratio for carriers of pathogenic CHEK2 variants (combined) was 4.9 (95% CI 2.5-9.5) relative to non-carriers. The HR for carriers of the CHEK2 c.1100delC variant was estimated to be 3.5 (95% CI 1.02-11.6) and the HR for carriers of all other CHEK2 variants combined was estimated to be 5.7 (95% CI 2.5-12.9). The age-specific cumulative risk of breast cancer was estimated to be 18% (95% CI 11-30%) and 33% (95% CI 21-48%) to age 60 and 80 years, respectively. These findings provide important information for the clinical management of breast cancer risk for women carrying pathogenic variants in CHEK2.Copyright © 2021 by the authors. Licensee MDPI, Basel, Switzerland. | en |
dc.language | en | en |
dc.language | English | en |
dc.publisher | MDPI AG | en |
dc.relation.ispartof | Cancers | en |
dc.title | Population-based estimates of the age-specific cumulative risk of breast cancer for pathogenic variants in CHEK2: Findings from the australian breast cancer family registry. | en |
dc.type | Article | en |
dc.type.studyortrial | Observational study (cohort, case-control, cross sectional or survey) | - |
dc.identifier.doi | http://monash.idm.oclc.org/login?url= | - |
dc.identifier.doi | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.3390/cancers13061378 | en |
dc.publisher.place | Switzerland | en |
dc.identifier.source | 2006758570 | en |
dc.identifier.institution | (Nguyen-dumont, Steen, Renault, Hammet, Mahmoodi, Theys, Rewse, Tsimiklis, Giles, Milne, Southey) Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, VIC 3168, Australia (Nguyen-dumont, Southey) Department of Clinical Pathology, Melbourne Medical School, University of Melbourne, VIC 3010, Australia (Dowty, Giles, Milne, Hopper) Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010, Australia (Winship) Royal Melbourne Hospital, Parkville, VIC 3050, Australia (Winship) Department of Medicine, The University of Melbourne, VIC 3010, Australia (Giles, Milne, Southey) Cancer Epidemiology Division, Cancer Council Victoria, VIC 3004, Australia | en |
dc.description.address | M.C. Southey, Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, VIC 3168, Australia. E-mail: Melissa.Southey@monash.edu M.C. Southey, Department of Clinical Pathology, Melbourne Medical School, University of Melbourne, VIC 3010, Australia. E-mail: Melissa.Southey@monash.edu M.C. Southey, Cancer Epidemiology Division, Cancer Council Victoria, VIC 3004, Australia. E-mail: Melissa.Southey@monash.edu | en |
dc.description.publicationstatus | Embase | en |
dc.rights.statement | Copyright 2021 Elsevier B.V., All rights reserved. | en |
dc.subect.keywords | Age-specific cumulative risk Breast cancer CHEK2 Genetic risk factors Penetrance Predisposition | en |
dc.identifier.authoremail | Steen J.A.; jason.steen@monash.edu Renault A.-L.; anne-laure.renault@monash.edu Hammet F.; Fleur.Hammet@monash.edu Mahmoodi M.; maryam.mahmoodi@monash.edu Theys D.; derrick.theys@monash.edu Rewse A.; amanda.rewse@monash.edu Tsimiklis H.; Helen.Tsimiklis@monash.edu Nguyen-dumont T.U.; tu.nguyen-dumont@monash.edu Dowty J.G.; jdowty@unimelb.edu.au Hopper J.L.; j.hopper@unimelb.edu.au Giles G.G.; Graham.Giles@cancervic.org.au Milne R.L.; Roger.Milne@cancervic.org.au Southey M.C.; Melissa.Southey@monash.edu | en |
dc.description.grant | Organization: (MU) *Monash University* Organization No: 501100001779 Country: Australia Organization: (NCI) *National Cancer Institute* Organization No: 100000054 Country: United States No: APP1074383 Organization: (NHMRC) *National Health and Medical Research Council* Organization No: 501100000925 Country: Australia No: APP1101400 Organization: (NHMRC) *National Health and Medical Research Council* Organization No: 501100000925 Country: Australia No: RO1CA159868 Organization: (NIH) *National Institutes of Health* Organization No: 100000002 Country: United States | en |
dc.identifier.affiliationext | (Nguyen-dumont, Southey) Department of Clinical Pathology, Melbourne Medical School, University of Melbourne, VIC 3010, Australia | - |
dc.identifier.affiliationext | (Dowty, Giles, Milne, Hopper) Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010, Australia | - |
dc.identifier.affiliationext | (Winship) Royal Melbourne Hospital, Parkville, VIC 3050, Australia | - |
dc.identifier.affiliationext | (Winship) Department of Medicine, The University of Melbourne, VIC 3010, Australia | - |
dc.identifier.affiliationext | (Giles, Milne, Southey) Cancer Epidemiology Division, Cancer Council Victoria, VIC 3004, Australia | - |
dc.identifier.affiliationmh | (Nguyen-dumont, Steen, Renault, Hammet, Mahmoodi, Theys, Rewse, Tsimiklis, Giles, Milne, Southey) Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, VIC 3168, Australia | - |
item.fulltext | No Fulltext | - |
item.cerifentitytype | Publications | - |
item.openairetype | Article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | none | - |
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