[PDF][PDF] Analyse von Patienten mit Verdacht auf HNPCC-Syndrom auf MSH3-Sequenzveränderungen, CNV's und Methylierung in der Keimbahn und in Tumoren
M Spies - 2018 - edoc.ub.uni-muenchen.de
Humangenetik überwiesen werden, der den Betroffenen über seine Erkrankungsrisiken
sowie über die Möglichkeit, sich molekulargenetisch testen zu lassen, aufklärt (s. Abb. 5) …
sowie über die Möglichkeit, sich molekulargenetisch testen zu lassen, aufklärt (s. Abb. 5) …
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia
Z Bartosova, I Fridrichova, M Bujalkova, B Wolf… - Human …, 2003 - Wiley Online Library
Hereditary nonpolyposis colorectal cancer (HNPCC) is a dominantly‐inherited cancer
predisposition syndrome, in which the susceptibility to cancer of the colon, endometrium and …
predisposition syndrome, in which the susceptibility to cancer of the colon, endometrium and …
Immunhistochemische Untersuchungen als Prescreening-Verfahren bei HNPCC—eine Studie der ICG-HNPCC (International Collaborative Group)
G Möslein, R Krause-Paulus, S Thibodeau… - … Forum 2000 für …, 2000 - Springer
Zusammenfassung Hintergrund: Bislang wurden 5 DNA-Reparaturgene identifiziert, deren
Mutationen zu der klinischen Ausprägung eines HNPCC-Syndroms führen können. Der …
Mutationen zu der klinischen Ausprägung eines HNPCC-Syndroms führen können. Der …
Assessement of the pathogenic role of MSH2 missense variants in HNPCC syndrome
L Belvederesi, F Bianchi, E Galizia… - Journal of Clinical …, 2008 - ascopubs.org
22154 Background: Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is associated
with inherited defects in genes involved in postreplicative DNA MisMatch Repair (MMR) …
with inherited defects in genes involved in postreplicative DNA MisMatch Repair (MMR) …
Effectiveness of the crcapro program in identifying patients suspected for HNPCC
F Bianchi, E Galizia, R Bracci, L Belvederesi… - Clinical …, 2007 - Wiley Online Library
Subjects affected by hereditary non‐polyposis colorectal cancer exhibit a high susceptibility
to colon and extracolonic tumours, due to MMR gene defects. Revised Bethesda criteria are …
to colon and extracolonic tumours, due to MMR gene defects. Revised Bethesda criteria are …
Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis
Hereditary nonpolyposis colorectal cancer (HNPCC) is a relatively common autosomal
dominant cancer-susceptibility condition. The recent isolation of the DNA mismatch repair …
dominant cancer-susceptibility condition. The recent isolation of the DNA mismatch repair …
Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.
JM Buerstedde, P Alday, J Torhorst, W Weber… - Journal of medical …, 1995 - jmg.bmj.com
The cancer predisposition in most HNPCC families is believed to be associated with
mutations in the human mismatch repair gene homologues hMSH2 and hMLH1. We …
mutations in the human mismatch repair gene homologues hMSH2 and hMLH1. We …
[PDF][PDF] Germline hypermethylation of the MLH1 promoter region as the cause of HNPCC
RC Niessen, RMW Hofstra, K Kooi, J Ou… - Molecular Aspects of … - research.rug.nl
Background: It has been suggested that the detection of MLH1 promoter hypermethylation in
colorectal cancer justifies the diagnosis of a sporadic rather than an inherited defect of the …
colorectal cancer justifies the diagnosis of a sporadic rather than an inherited defect of the …
HNPCC: Six new pathogenic mutations
E Kunstmann, J Vieland, FE Brasch, SA Hahn… - BMC Medical …, 2004 - Springer
Background Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant
disease with a high risk for colorectal and endometrial cancer caused by germline mutations …
disease with a high risk for colorectal and endometrial cancer caused by germline mutations …
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC
B Roncari, M Pedroni, S Maffei, C Di Gregorio… - Clinical …, 2007 - Wiley Online Library
A large majority of constitutional mutations in hereditary non‐polyposis colorectal cancer
(HNPCC) are because of the MHL1 or MSH2 genes. In a lower fraction of cases, another …
(HNPCC) are because of the MHL1 or MSH2 genes. In a lower fraction of cases, another …