Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome.

Rachel PearlmanSigurdis HaraldsdottirAlbert de la ChapelleJon G JonassonSandya LiyanarachchiWendy L FrankelThorunn RafnarKari StefanssonColin C PritchardHeather Hampel

Published in: Journal of medical genetics (2019)

Individuals with LS are 15× more likely to meet Amsterdam II criteria and >5× more likely to have multiple cancers as compared with those with DS tumours. Furthermore, isolated loss of MSH6 or PMS2 protein predicts LS.

Keyphrases

case report
copy number
protein protein
binding protein
gene expression
dna methylation