(comprehensive review) Extracolonic Manifestations of Lynch Syndrome (research bias towards colorectal/uterine) Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Sunday, November 16, 2014

(comprehensive review) Extracolonic Manifestations of Lynch Syndrome (research bias towards colorectal/uterine)



 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.

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