Research Questions

Lynch Syndrome: Early Detection and Cancer Prevention

Lynch syndrome (LS) population are at increased risk for cancers, such as colorectal, endometrium, ovaries, stomach, small bowel, pancreas, kidneys, brain, ureters and bile duct. LS is caused by genetic defects in one or more DNA MMR genes, including MLH1, MSH2, MSH6, and PMS2. Cancer progression is rapid in LS patients compared to general population. Clinicians now have a simple and easily employed means of determining if an individual carries the genetic mutations found with LS. Currently, there is no cure for LS. Patients with LS should undergo lifelong cancer screening beginning in adult hood. However, there have been several case reports on the occurrence of cancers in children and adolescents with LS that emphasize the importance of investigations for the presence of LS-associated cancers, as well as other cancers. Following should be considered for reducing the childhood, adolescent and young adult risk for cancer development due to LS. 1) Genetic testing of the children who has family history of LS or hereditary cancers should be promoted. 2) Children known to carry genetic mutations associated with LS shall follow enhanced surveillance guidelines with periodic blood collection. 3) Analysis should be performed to determine the age/time at which molecular and immunological changes occur in the blood collected over period of time from LS children to determine the changes responsible for tumor development at a later age that help develop early predictive biomarkers as well as tumorigenic targets that can be targeted to intercept or arrest cancer development. 5) Develop early detection assays to identify frameshift mutations in the blood by gathering molecular and immunological data using peripheral blood (noninvasive) starting during adolescence (long before they reach 25 yrs of age when they are recommended to undergo colonoscopy every 1-2 years) and focus on the possibility of developing frameshift vaccines (immunoprevention).

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