Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses

What is the association between pathogenic variation in previously implicated cancer predisposition genes and single and multiple primary cancer diagnoses in a population-based genetic association study?In this genetic association study of 183 627 participants, carriers of rare pathogenic variants in 16 genes were associated with at least 1 cancer diagnosis. Several well-established associations were confirmed in this analysis, particularly in DNA damage repair genes; carriers had 1.9-fold higher odds of a single cancer and 2.6-fold higher odds of multiple cancers.Individuals with multiple primary cancer diagnoses may benefit from gene panel testing; population-based methods minimize selection bias and can refine previously identified risk estimates.

Corresponding Author: Jeffrey W. Shevach, MD, MSCE, Duke Cancer Institute, Duke University School of Medicine, DUMC Box 103861, Durham, NC 27710 (jeffrey.shevach@duke.edu).

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