Articles with "deficiency testing" as a keyword



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Mismatch Repair Deficiency Testing in Patients With Colorectal Cancer and Nonadherence to Testing Guidelines in Young Adults

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Published in 2018 at "JAMA Oncology"

DOI: 10.1001/jamaoncol.2017.3580

Abstract: Importance Mismatch repair (MMR) deficiency of DNA has been observed in up to 15% of sporadic colorectal cancers (CRCs) and is a characteristic feature of Lynch syndrome, which has a higher incidence in young adults… read more here.

Keywords: testing guidelines; deficiency testing; mmr deficiency; mismatch repair ... See more keywords
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Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors

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Published in 2023 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2023.1147591

Abstract: Introduction Lynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 or PMS2. Somatic second hits in tumors cause MMR deficiency, testing for which is… read more here.

Keywords: msi analysis; syndrome associated; deficiency testing; lynch syndrome ... See more keywords