Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families

Evaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Novel germline MLH1 and MSH2 mutations in Latvian Lynch syndrome families.

BACKGROUND/AIMS Hereditary non-polyposis colorectal cancer or Lynch syndrome is an autosomal dominantly inherited disease with high penetrance, mostly due to mutations in the MLH1 and MSH2 genes. The aim of this study is to investigate the mutation spectrum of the MLH1 and MSH2 genes. METHODOLOGY High risk colorectal cancer families were selected from overall 1053 consecutive patients. Screen...

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

G Kurzawski, J Suchy, J Kładny, K Safranow, A Jakubowska, P Elsakov, V Kucinskas, J Gardovski, A Irmejs, H Sibul, T Huzarski, T Byrski, T Dębniak, C Cybulski, J Gronwald, O Oszurek, J Clark, S Góźdź, S Niepsuj, R Słomski, A Pławski, A Łącka-Wojciechowska, A Rozmiarek, Ł Fiszer-Maliszewska, M Bębenek, D Sorokin, M Stawicka, D Godlewski, P Richter, I Brożek, B Wysocka, A Jawień, Z Banaszkiewicz, ...

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Germline mutations in the DNA mismatch repair genes MSH2 and MLH1 account for a significant proportion of hereditary non-polyposis colorectal cancer (HNPCC) families. One approach by which development of an efficient DNA-testing procedure can be implemented is to describe the nature and frequency of common mutations in particular ethnic groups. Two hundred and twenty-six patients from families ...

Three novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome living on Jeju island, Korea.

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterized by predisposition to early-onset cancers. HNPCC is caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6, PMS1, and PMS2. We genotyped the MLH1 and MSH2 genes in patients suffering from Lynch syndrome and in 11 unrelated patients who were diagnosed wit...