pylori-associated chronic gastritis and intestinal metaplasia, which was reduced after eradication of the organism (median score 2 vs. 1, P = 0.037 in chronic gastritis; median score 2 vs. 0, P = 0.008 in intestinal metaplasia). While the normal gastric mucosa showed strong p27 expression, ...
特异基因突变 Lynch syndrome is caused by a mutation (genetic change) in one of five specific genes that are responsible for fixing errors in DNA. To further explain, DNA are the codes that carry genetic information. Every time cells divide, the DNA duplicates. Sometimes errors occur during DNA...
The mutational spectrum of the MMR genes shows no predominant type of mutation. Furthermore, the mutations are spread throughout the length of the genes, with no significant hot spots. Identification of MMR genes as the cause of HNPCC made presymptomatic diagnosis a reality. However, the ...
The mutation spectrum in the Israelipopulation is poorly documented except for the c.1906G>C Ashkenazi founder mutation in the hMSH2 gene. To report our experiencein HNPCC screening, the mutations detected and the clinical features among a cohort of Israeli patients. Diagnostic work-upwas done ...
Mutation of a mutL homolog in hereditary colon cancer Science, 263 (5153) (1994), pp. 1625-1629 CrossrefView in ScopusGoogle Scholar 44 Y.R. Parc, et al. HMSH6 alterations in patients with microsatellite instability-low colorectal cancer Cancer Res, 60 (8) (2000), pp. 2225-2231 View ...
mutation analysis and colonoscopic surveillance in Chinese HNPCC families Abstract Background Hereditary non-polyposis colorectal cancer (HNPCC), also called Lynch syndrome, is a genetic disease with an autosomal dominant mode of inheritance. HNPCC is characterized by an early onset of malignancy with a...
, 1993). In particular, in MLH1 and MSH2 genes, the major proportion (80%) of pathogenetic mutation in HNPCC families has been detected (Liu et al., 1996; Papadopoulos and Lindblom, 1997). Muir–Torre phenotype is not linked to particular biomolecular MMR genes alteration, although the ...
Forty-percent of MSI-H sporadic tumors presented with this mutation which was absent in the MSS tumors. It was previously described that this mutation is also absent in HNPCC tumors [46]. V600E was distributed equally between tumors that lost vs. retained expression of HLA class I in the ...
The other, in a second patient, was a missense mutation from CTT to TTT at codon 390 in exon 7 that resulted in substitution of phenylalanine for leucine. This conservative alteration was not found in any of 50 normal controls, but we cannot exclude the possibility that it may represent a...
Among the 57 HNPCC families, we have identified four MTS families and one suspected MTS family, in which sebaceous carcinoma was found in one HNPCC mutation carrier subject who did not show visceral malignancy. In four of these families, linked to two MLH1 mutations and to two MSH2 mutations...