The UMD-MSH6 mutations database
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Last update 18/11/15

This database includes 2106 mutations

( 443 different mutations and 307 proteic variants)


News

The UMD-MMR databases have been set up in a joined national effort through the network of 16 diagnostic laboratories to provide up-to-date information about mutations of the MLH1, MSH2 and MSH6 genes identified in patients with colorectal and/or endometrium cancer. These databases currently contain published and unpublished information about the MLH1, MSH2 and MSH6 mutations reported in French diagnostic laboratories.
The databases of MLH1, MSH2 and MSH6 mutations were built using the "Universal Mutation Database" tool.

For each mutation, information is provided at several levels:
  - at the gene level: exon and codon number, wild type and mutant codon, mutation event, mutation name and,
  - at the protein level: wild type and mutant amino acid, binding domain, affected domain.


<
Reference
Laboratory name
City
Name
First Name
e-mail
2
Institut Gustave Roussy
Villejuif
Guillaud-Bataille
Marine
Cabaret
Odile
4
Centre Leon Bérard
Lyon
Wang
Qing
5
Institut Bergonié
Bordeaux
Bonnet
Françoise
6
Institut Claudius Regaud
Toulouse
Toulas
Christine
7
Institut Paoli-Calmettes
Marseille
Popovici
Cornel
8
CHRU Nancy Brabois
Vandoeuvre-les-Nancy
Bronner
Myriam
14
CHU Nantes
Nantes
Airaud
Fabrice
17
Institut Curie
Paris
Rouleau
Etienne
19
CHU Charles Nicolle
Rouen
Tinat
Julie
Baert-Desurmont
Stéphanie
20
Centre Jean Perrin
Clermont-Ferrand
Uhrhammer
Nancy
25
CHU Strasbourg
Strasbourg
Maugard
Christine
31
CHU Arnaud de Villeneuve
Montpellier
Rey
Jean-Marc
33
Groupe Hospitalier Pitié-Salpêtrière
Paris
Coulet
Florence
Guillerm
Erell
37
CHRU Lille
Lille
Buisine
Marie-Pierre
Leclerc
Julie
38
Institut Cochin de Génétique Moléculaire
Paris
North
Marie-Odile
41
Hôpital Européen Georges Pompidou
Paris
Burnichon
Nelly
42
Hôpital Avicenne
Paris
Schischmanoff
Olivier

Data from diagnostic laboratories (blue dots) are sent to Marseille for inclusion and curation into the database. Data from the curation center (red dots) are updated by the Bioinformatics team of INSERM UMR_S910 into the UMD-MLH1, MSH2 and MSH6 French databases.
If you want to submit a mutation, please contact S. Olschwang., P. Grandval. or A. Fabre.



This work was supported by grants from INCA


The French National Committee of Informatics and Liberty (CNIL) authorized this database registered under number 1800785v0 on October 2014.

The UMD-MSH6 Locus Specific Database constitutes the intellectual property of the curators of the database. Any unauthorized copying, storage or distribution of this material without written permission from the curators would lead to copyright infringement with possible ensuing litigation.

For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of 11 March 1996 on the legal protection of databases.