Analysis of Age of Onset Data from Case-Control Family Studies

Biometrics ◽  
1998 ◽  
Vol 54 (3) ◽  
pp. 1030 ◽  
Author(s):  
Hongzhe Li ◽  
Ping Yang ◽  
Ann G. Schwartz
Biometrics ◽  
2004 ◽  
Vol 60 (4) ◽  
pp. 936-944 ◽  
Author(s):  
Li Hsu ◽  
Lu Chen ◽  
Malka Gorfine ◽  
Kathleen Malone

Biometrics ◽  
2002 ◽  
Vol 58 (3) ◽  
pp. 502-509 ◽  
Author(s):  
Joanna H. Shih ◽  
Nilanjan Chatterjee

2007 ◽  
Vol 115 (S 1) ◽  
Author(s):  
M Meilinger ◽  
N Schweighofer ◽  
A Forjanics ◽  
H Dobnig ◽  
A Fahrleitner-Pammer ◽  
...  

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.


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