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Kin-cohort designs for gene characterization.

M H Gail¹, D Pee, R Carroll

¹Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA. gailm@exchange.nih.gov

Journal of the National Cancer Institute. Monographs

|June 16, 2000

Summary

The kin-cohort design efficiently estimates autosomal dominant gene penetrance, useful for BRCA mutations and breast cancer risk in Ashkenazi Jewish women, but is prone to biases.

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Area of Science:

Genetics
Epidemiology
Biostatistics

Background:

The kin-cohort design involves genotyping a proband and collecting disease history from first-degree relatives.
This method estimates autosomal dominant gene penetrance, as demonstrated in studies of BRCA mutations and breast cancer risk in Ashkenazi Jewish women.

Purpose of the Study:

To review the advantages and disadvantages of the kin-cohort design for genetic penetrance estimation.
To examine the impact of assumption violations on penetrance estimates.

Main Methods:

Review of the kin-cohort design, focusing on dichotomous outcomes and time-to-disease onset.
Analysis of potential biases including selection bias, misclassification, Hardy-Weinberg equilibrium violations, conditional independence violations, and small sample sizes.

Main Results:

The kin-cohort design offers rapid execution and reduced sample size requirements compared to traditional designs.
It allows for studying multiple disease outcomes associated with a single autosomal dominant mutation.

Conclusions:

The kin-cohort design is practical for estimating genetic penetrance and disease risk.
Potential biases must be carefully considered and mitigated during study design and analysis to ensure valid results.

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