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Functional analysis of MMR gene VUS from potential Lynch syndrome patients

6 Jun 2024

Abstract excerpt

Lynch syndrome is caused by inactivating variants in DNA mismatch repair genes, namely MLH1, MSH2, MSH6 and PMS2. We have investigated five MLH1 and one MSH2 variants that we have identified in Turkish and Tunisian colorectal cancer patients. These variants comprised two small deletions causing frameshifts resulting in premature stops which could be classified pathogenic (MLH1 p.(His727Profs*57) and MSH2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38843250
DOI: 10.1371/journal.pone.0304141

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