Lynch Syndrome From a Surgeon PerspectiveLynch Syndrome From a Surgeon Perspective
Preoperative identification of colorectal cancer patients with Lynch Syndrome may have a great clinical relevance in patient care strategies. BMC Surgery
ConclusionThe present study describes the clinicopathologic data of double primary endometrial and colorectal cancer patients and supports that these patients should undergo closed approach for Lynch syndrome. Moreover, a possible founder mutation in Korean endometrial cancer patients was identified.
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(Springer) Individuals with Lynch syndrome, a genetic condition that has long been known to carry dramatically increased risk of colorectal cancer and uterine cancer, now also have an increased risk of breast cancer. This is the conclusion of a study in the journal Genetics in Medicine which is published by Springer Nature.
ConclusionsTherefore, compared with Lynch-syndrome-associated cancers, sporadic MSI cancers are more frequently solid, poorly differentiated medullary cancers that express PD-L1.
CONCLUSIONS: Therefore, compared with Lynch-syndrome-associated cancers, sporadic MSI cancers are more frequently solid, poorly differentiated medullary cancers that express PD-L1. PMID: 29327160 [PubMed - as supplied by publisher]
AbstractLynch syndrome (LS) predisposes to a spectrum of cancers and increases the lifetime risk of developing colorectal- or endometrial cancer to over 50%. Lynch syndrome is dominantly inherited and is caused by defects in DNA mismatch-repair genesMLH1, MSH2, MSH6 orPMS2, with the vast majority detected inMLH1 andMSH2. Recurrent LS-associated variants observed in apparently unrelated individuals, have either arisen de novo in different families due to mutation hotspots, or are inherited from a founder (a common ancestor) that lived several generations back. There are variants that recur in some populations while also act...
Abstract DNA repair pathways are essential for cellular survival as our DNA is constantly under assault from both exogenous and endogenous DNA damaging agents. Five major mammalian DNA repair pathways exist within a cell to maintain genomic integrity. Of these, the DNA mismatch repair (MMR) pathway is highly conserved among species and is well documented in bacteria. In humans, the importance of MMR is underscored by the discovery that a single mutation in any one of four genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS). LS is an autosomal dominant condition that predisposes ...
Conclusion The use of genetic testing and preoperative imaging studies should be considered to be invaluable tools for detecting synchronous malignancies. Practicing physicians should pay more attention to the risk of simultaneous separate primary malignancies.
ConclusionsdMMR biliary tract cancers associated with LS are rare but long-term outcomes may be more favorable than contemporaneous cohorts of non-Lynch-associated cholangiocarcinomas. Given the emerging promise of immunotherapy for patients with dMMR malignancies, tumor testing for dMMR followed by confirmatory germline testing should be considered in patients with BTC and a personal history of other LS cancers.