Blogger's Note: this is information concerning a French
database for Lynch Syndrome
open access
'We examined
MLH1/MSH2/MSH6
variations collected by the 16 licensed laboratories located in France
and belonging to the French MMR network during the past 18 years.
Updates on new variations or new samples found to carry MMR variations
are done twice a year. In June 2012, a total of 7047 variations were
provided for registration, and 6480 could be integrated by the UMD
software for further analyses. They represent 1174 different variations
corresponding to 467 truncating mutations (40%) and 707 VUS (60%).
Entries correspond to all variations found through a complete exon
screening of the three genes not only in index cases but also in those
relatives that were genetically screened and found to be mutation
carriers. This nation-wide and systematic registration should improve
the prevalence estimate of germline MMR mutations in France....
0 comments :
Post a Comment
Your comments?
Note: Only a member of this blog may post a comment.