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Title:

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.

Document type:
Journal Article
Author(s):
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
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...     »
Journal title abbreviation:
Genet Test
Year:
2005
Journal volume:
9
Journal issue:
2
Pages contribution:
138-46
Language:
eng
Fulltext / DOI:
doi:10.1089/gte.2005.9.138
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/15943554
Print-ISSN:
1090-6576
TUM Institution:
Chirurgische Klinik und Poliklinik; Institut für Allgemeine Pathologie und Pathologische Anatomie
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