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colorectal carcinoma.
high microsatellite instability (MSI-H) and a mutation in the MLH1 gene with a variant allele frequency of 47%.
hould be included in counseling this patient?
ermline mismatch repair deficiencies (Lynch syndrome) are caused by recessive mutations primarily in MLH1, MSH2, MSH6, and PMS
Patients with confirmed germline mutations in these genes require additional screening for endometrial, ovarian, urologic, and upper gastrointestinal malignancies as well.
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