Journal article
Do the risks of Lynch syndrome-related cancers depend on the parent-of-origin of the mutation?
Shimelis Gemechu, Christine M van Vliet, Aung Ko Win, Jane C Figueiredo, Loic Le Marchand, Steven Gallinger, Polly A Newcomb, John L Hopper, Noralane M Lindor, Mark A Jenkins, James G Dowty
International Journal of Epidemiology | Oxford University Press | Published : 2021
Abstract
Background Individuals who carry pathogenic mutations in DNA mismatch repair (MMR) genes have high risks of cancer, and small studies have suggested that these risks depend on the sex of the parent from whom the mutation was inherited. We have conducted the first large study of such a parent-of-origin effect (POE). Methods Our study was based on all MMR gene mutation carriers and their relatives in the Colon Cancer Family Registry, comprising 18,226 people. The POE was estimated as a hazard ratio (HR) using a segregation analysis approach that adjusted for ascertainment. HR = 1 corresponds to no POE and HR>1 corresponds to higher risks for maternal mutations. Results For all MMR genes combin..
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