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Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome Vrije Universiteit Brussel

Juul T Wijnen, Richard M Brohet, Ronald van Eijk, Shanty Jagmohan-Changur, Anneke Middeldorp, Carli Mj Tops, Mario van Puijenbroek, Margreet G E M Ausems, Encarna B Gómez García, Frederik Jan Hes, et al.

BACKGROUND & AIMS: Recent genome-wide association studies have identified common low-risk variants for colorectal cancer (CRC). To assess whether these influence CRC risk in the Lynch syndrome, we genotyped these variants in a large series of proven mutation carriers.

METHODS: We studied 675 individuals from 127 different families from the Dutch Lynch syndrome Registry whose mutation carrier status was known. We genotyped 8q24.21, ...

Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome Vrije Universiteit Brussel

Heleen M van der Klift, Carli Mj Tops, Frederik Jan Hes, Peter Devilee, Juul T Wijnen

Heterozygous germline mutations in the mismatch repair gene PMS2 predispose carriers for Lynch syndrome, an autosomal dominant predisposition to cancer. Here, we present a LINE-1-mediated retrotranspositional insertion in PMS2 as a novel mutation type for Lynch syndrome. This insertion, detected with Southern blot analysis in the genomic DNA of the patient, is characterized as a 2.2 kb long 5' truncated SVA_F element. The insertion is not ...