PMS2 mutation analysis using 14. The clinical phenotype of Aug 2008 long range PCR and MLPA for 99 study Lynch syndrome due to probands diagnosed with Lynch germline PMS2 syndrome-associated tumors mutations showing isolated loss of PMS2 by immunohistochemistry. Results demonstrated that PMS2 mutations contribute significantly to Lynch syndrome but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Families with Lynch syndrome 15. Cancer Risks Associated 8 Jun 2011 from 40 French cancer genetics study With Germline clinics participating in the Mutations in ERISCAM (study; 537 families with MLH1, MSH2, segregating mutated genes (248 and MSH6 Genes in with MLH1; 256 with MSH2; and Lynch Syndrome 33 with MSH6) were analysed for age-specific cumulative cancer risks.
14. study The clinical phenotype of Lynch syndrome due to germline PMS2 mutations PMS2 mutation analysis using long range PCR and MLPA for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Results demonstrated that PMS2 mutations contribute significantly to Lynch syndrome but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Aug 2008 15. study Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome Families with Lynch syndrome from 40 French cancer genetics clinics participating in the ERISCAM (study; 537 families with segregating mutated genes (248 with MLH1; 256 with MSH2; and 33 with MSH6) were analysed for age-specific cumulative cancer risks. 8 Jun 2011