Article
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort.
Familial cancer - 1 Nov 2024
Sipilä Lauri J, Aavikko Mervi, Ravantti Janne, Martin Samantha, Kuopio Teijo, Lahtinen Laura, FinnGen, Peltomäki Päivi, Mecklin Jukka-Pekka, Aaltonen Lauri A, Seppälä Toni T
Abstract excerpt
Some 50% of Finnish Lynch Syndrome (LS) cases are caused by a founder variant in MLH1, in which the entire exon 16 has been lost due to an Alu-mediated recombination event. We piloted detecting the variant in FinnGen, a large genotyped cohort comprising approximately 10% of the current Finnish population, and validated the MLH1 founder variant status of identified individuals residing in the Central Finland...
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