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American Journal of Epidemiology Vol. 148, No. 7: 623-630
Copyright © 1998 by The Johns Hopkins University School of Hygiene and Public Health

ORIGINAL CONTRIBUTIONS

The Kin-Cohort Study for Estimating Penetrance

Sholom Wacholder1, Patricia Hartge1, Jeffery P. Struewing1, David Pee2, Mary McAdams3, Lawrence Brody4 and Margaret Tucker1

1 Division of Cancer Epidemiology and Genetics, National Cancer institute Betesda, MD
2 Information Management Systems Rockville, MD
3 Information Management Systems Silver Spring, MD
4 National Human Genome Research Institute Bethesda, MD

Received for publication February 3, 1997. Accepted for publication March 20, 1998.

A cross-sectional study may be more feasible than a cohort or case-control study for examining the effect of a genetic mutation on cancer penetrance outside of cancer families. The kin-cohort design uses volunteer probands selected from a population with a relatively high frequency of the mutations of interest. By considering the cancer risk in first-degree relatives of mutation-positive and-negative probands as a weighted average of the risk in carriers and noncarriers, with weights calculated assuming a known mode of inheritance, one can infer the penetrance of the mutations. The estimates of penetrance by age 70 years for three specific mutations in the BRCA1 and BRCA2 genes common among Ashkenazi Jews for the first occurrence of breast or ovary cancer is 63%. The kin-cohort design can be a useful tool for quickly estimating penetrance from volunteers in a setting in which the mutation prevalence is relatively high. Am J Epidemiol 1998; 148: 623-30.

biometry; breast neoplasms; colon neoplasms; epidemiologic methods; genetics; Jews; ovarian neoplasms


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