PMS2 monoallelic mutation carriers: the known unknown. Genet Med; e-pub ahead of print 9 April 2015.Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, et al. PMS2 monoallelic
Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied, and multiple professional societies have proposed clinical management guidelines for a
Mutation Carrier Abbreviations used in this paper CCFRC Colon Cancer Family Registry Cohort CRC colorectal cancer LoF loss of function WES whole-exome sequencing TheendonucleaseIII-likeprotein 1, encoded byNTHL1, is a bifunctionalglycosylaseinvolved in base-excision repair (BER) that recognizes and re...
PMS2 mono- allelic mutation carriers: the known unknown. Genet Med 2016;18: 13-9.Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, et al. PMS2 monoallelic mutation carriers: the known unknown. Genetics in medicine: official journal of the American College...