|
|
|
|
|
|
|
|
Note: previously linked to abstract
open access
Gastric Cancer
Breast Cancer
Urothelial and Other Urological Cancers
Pancreaticobiliary Cancer
Small Bowel Cancer
Brain Cancers
Skin Cancer
Hematopoietic Malignancies
Sarcoma
Summary
Our
understanding of Lynch syndrome has evolved over time and continues to
do so. The spectrum of extracolonic malignancies appears to be more
diverse than once understood, and is very much different than the
initial descriptions. In addition to well-documented malignancies, there
is a growing list of other cancers that warrant inclusion in Lynch
syndrome. At the same time, the role of extracolonic malignancies is
evolving, as the index cancers may not be colorectal or other commonly
seen cancers. Numerous factors determine the frequency of
Lynch-associated cancers. These include geography, ethnicity, gender,
and underlying genetic mutation. In addition, the responsible mutations
and the diagnostic tools we use to define at risk individuals have
changed. Although more MMR mutations have been recently identified, all
mutations are not yet known. Finally, MMR mutations may not be the only
pathway to Lynch syndrome, since the emergence of EpCAM, germ-line
hypermethylation of MLH1, and possibly CHEK2. It is unclear if these
genes also act in a comodulating role or in fact represent a separate
Lynch-like syndrome. What is clear is that our index of suspicion must
be higher. Population-based screening is needed to truly understand the
incidence, phenotype, and scope of affected families. The role of
extracolonic malignancies, within that screening, will be very prominent
as the heterogeneity of expressed cancers becomes more evident.
0 comments :
Post a Comment
Your comments?
Note: Only a member of this blog may post a comment.