Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
نویسندگان
چکیده
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, J Kowalczyk, D Czudowska, P E Goretzki, G Moeslein, J Lubiński . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
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 ...
متن کاملEvaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
متن کامل
Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.
BACKGROUND The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to be quite similar to that in Poland; however during a country-wide study considerable differences in the population of Latvia were discovered. This study was undertaken to investigate the clinical and molecular features of HNPCC in Latvia. MATERIALS AND METHODS Family cancer histories we...
متن کاملMutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investigate further the genetic epidemiology of HNPCC and the nature and frequency of germline mutations in t...
متن کاملMSH2 and MLH1 testing
DNA testing is recommended in families fulfilling at least “suspected HNPCC” criteria. After exclusion of FAP (characteristic FAP features include polyposis, congenital hypertrophy of the retinal pigment epithelium, cysts and osteomata of bones of the maxilla and mandible, desmoid tumours), immunohistochemical analyses (IHC) of MLH1, MSH2 and MSH6 expression in malignant tissues should be perfo...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 39 10 شماره
صفحات -
تاریخ انتشار 2002