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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