Cancers, Vol. 11, Pages 1081: Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

In this study, we follow the diagnostic journey of a 12-year old patient with CRC, with a clinical phenotype overlapping CMMRD. We perform molecular and functional assays to discard a CMMRD diagnosis then identify by exome sequencing and validation in a cohort of 134 LS patients, a candidate variant in the MLH1 UTR region in homozygosis. We propose that this variant, together with other candidates, could be responsible for age-of-onset modulation. Our data support the idea that low-risk modifier alleles may influence early development of cancer in LS leading to a LS-to-CMMRD phenotypic continuum. Therefore, it is essential that larger efforts are directed to the identification and study of these genetic modifiers, in order to provide optimal cancer prevention strategies to these patients.

Source: Cancers - July 29, 2019 Category: Cancer & Oncology Authors: Fernandez-Rozadilla Alvarez-Barona Schamschula Bodo Lopez-Novo Dacal Calvi ño-Costas Lancho Amigo Bello Cameselle-Teijeiro Carracedo Colas Muleris Wimmer Ruiz-Ponte Tags: Communication Source Type: research