|
|
|
|
|
|
|
|
open access
Abstract
Background
Lynch
syndrome, the most frequent hereditary colorectal cancer syndrome, is
caused by defects in mismatch repair genes. Genetic testing is important
in order to identify mutation carriers who can benefit from intensive
surveillance programs. One of the challenges with genetic testing is the
interpretation of pathogenicity of detected DNA
variants. The aim of this study was to investigate all putative
pathogenic variants tested for at the Division of Molecular Medicine,
Pathology North, in Newcastle, Australia, to establish whether previous
variant classification is in accordance with that recently performed in
the InSiGHT collaboration.
The aim of this study was to investigate all putative pathogenic variants tested for at the Division of Genetics, Hunter Area Pathology Service (HAPS), Pathology North, in Newcastle, New South Wales, Australia, to establish whether previous variant classification is in accordance with that performed in the InSiGHT collaboration.
Methods
Prediction programs and available literature were used to classify new variants or variants without classification.
Results
We
identified 333 mutation positive families, in which 211 different
putative pathogenic mismatch repair mutations were found. Most variants
with an InSiGHT classification (141 out
of 146) were in accordance with our classification. Five variants were
discordant, of which one can definitively be reclassified according to
the InSiGHT scheme as class 5. Sixty‐four variants had not been classified by InSiGHT, of whom 55 have not been previously reported.
Conclusion
In conclusion, we found that our classifications were mostly in accordance with the InSiGHT scheme. In addition to already known MMR mutations, we have also presented 55 novel pathogenic or putative pathogenic mutations......
0 comments :
Post a Comment
Your comments?
Note: Only a member of this blog may post a comment.