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Dokumenttyp:
journal article 
Autor(en):
Grabowski, M; Mueller-Koch, Y; Grasbon-Frodl, E; Koehler, U; Keller, G; Vogelsang, H; Dietmaier, W; Kopp, R; Siebers, U; Schmitt, W; Neitzel, B; Gruber, M; Doerner, C; Kerker, B; Ruemmele, P; Henke, G; Holinski-Feder, E 
Titel:
Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. 
Abstract:
Hereditary nonpolyposis colorectal cancer (HNPCC) is due to defects in DNA mismatch repair (MMR) genes MSH2, MLH1, MSH6, and to a lesser extent PMS2. Of 466 suspected HNPCC families, we defined 54 index patients with either tumors of high microsatellite instability (MSI-H) and/or loss of expression for either MLH1, MSH2, and/or MSH6, but without a detectable pathogenic point mutation in these genes. This study cohort was augmented to 64 patients by 10 mutation-negative index patients from Amster...    »
 
Zeitschriftentitel:
Genet Test 
Jahr:
2005 
Band / Volume:
Heft / Issue:
Seitenangaben Beitrag:
138-46 
Sprache:
eng 
Print-ISSN:
1090-6576 
TUM Einrichtung:
r Allgemeine Pathologie und pathologische Anatomie; Chirurgiesche Klinik und Poliklinik