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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. | Authors: | Southey M.C.;Tsimiklis H.;Winship I.M.;Giles G.G.;Milne R.L.;Hopper J.L.;Nguyen-dumont T.U.;Dowty J.G.;Steen J.A.;Renault A.-L.;Hammet F.;Mahmoodi M.;Theys D.;Rewse A. | 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 | Issue Date: | 5-Apr-2021 | Copyright year: | 2021 | Publisher: | MDPI AG | Place of publication: | Switzerland | Publication information: | Cancers. 13 (6) (pp 1-11), 2021. Article Number: 1378. Date of Publication: 02 Mar 2021. | Journal: | Cancers | 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. | DOI: | http://monash.idm.oclc.org/login?url= http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.3390/cancers13061378 |
ISSN: | 2072-6694 (electronic) | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/26785 | Type: | Article | Subjects: | *cancer risk cancer susceptibility case control study controlled study female gene identification genetic association genetic risk genetic screening *genetic variability heterozygote article Australian *breast cancer cancer registry population based case control study segregation analysis very elderly *checkpoint kinase 2/ec [Endogenous Compound] *CHEK2 gene adult *age aged human penetrance penetrance adult *age aged Article Australian *breast cancer cancer registry *cancer risk cancer susceptibility case control study controlled study female gene identification genetic association genetic risk genetic screening *genetic variability heterozygote human population based case control study segregation analysis very elderly |
Type of Clinical Study or Trial: | Observational study (cohort, case-control, cross sectional or survey) |
Appears in Collections: | Articles |
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