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Detection of frameshift mutations and neoantigens in children with constitutional mismatch repair deficiency syndrome

One of the most aggressive forms of childhood cancer predisposition syndromes is constitutional mismatch repair deficiency syndrome (CMMRD). CMMRD results from biallelic deleterious germline mutations in one of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, or PMS2. Children with CMMRD develop hematological malignancies, brain tumors, gastrointestinal cancers, and other cancers. Compared to cancers associated with... more »

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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... more »

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Key Questions for the CCDI on behalf of the Center for Young Adult Cancer Survivorship at USC

Whether diagnosed as a child (< age 15), adolescent, or young adult (AYA, age 15-39), young survivors of cancer face many challenges regarding their long-term outcomes. This presents a timely opportunity for the CCDI to clarify what this growing population will need in the future, but we must first clearly understand the target population for this initiative. Clarity is needed whether the intention of the CCDI is to provide... more »

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