Genetic analysis of age-at-onset traits based on case-control family data

2010 ◽  
Vol 29 (30) ◽  
pp. 3258-3266 ◽  
Author(s):  
Benjamin H. Yip ◽  
Tron Anders Moger ◽  
Yudi Pawitan
2017 ◽  
Author(s):  
Luise Cederkvist ◽  
Klaus K. Holst ◽  
Klaus K. Andersen ◽  
David V. Glidden ◽  
Kirsten Frederiksen ◽  
...  

Biometrics ◽  
2005 ◽  
Vol 62 (2) ◽  
pp. 488-494 ◽  
Author(s):  
J. M. Neuhaus ◽  
A. J. Scott ◽  
C. J. Wild

2010 ◽  
Vol 17 (2) ◽  
pp. 175-194 ◽  
Author(s):  
Anna Graber-Naidich ◽  
Malka Gorfine ◽  
Kathleen E. Malone ◽  
Li Hsu

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1378
Author(s):  
Tú Nguyen-Dumont ◽  
James G. Dowty ◽  
Jason A. Steen ◽  
Anne-Laure Renault ◽  
Fleur Hammet ◽  
...  

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 (including likely pathogenic) variants combined. We conducted a population-based case-control-family 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.


Biometrics ◽  
1998 ◽  
Vol 54 (3) ◽  
pp. 1030 ◽  
Author(s):  
Hongzhe Li ◽  
Ping Yang ◽  
Ann G. Schwartz

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