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Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome (LS). In this study, we identified and characterized a novel SINE‐VNTR‐Alu (SVA) insertion in exon 12 of MSH2 in an individual with early‐onset colorectal cancer and a very strong LS family history. RT‐PCR analysis indicated a larger aberrant MSH2 transcript in one of the family members. MSK‐IMPACT next‐generation sequencing...
Endometrial carcinoma is one of the prototypical malignancies associated with Lynch syndrome, an inherited cancer syndrome most commonly caused by germline mutations in DNA mismatch repair (MMR) genes, although rare alternative mechanisms also exist. In this report, we describe a patient first diagnosed with colorectal cancer at age 33, then vulvar squamous cell carcinoma, facial sebaceous adenoma/sebaceoma,...
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