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A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue

The diagnostics of Lynch syndrome (LS) is focused on the detection of DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected on tumor tissue by microsatellite instability (MSI) using molecular genetic test or by loss of expression of one of the four proteins (MLH1, MSH2, MSH6, a...

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Bibliografiske detaljer
Udgivet i:Genes (Basel)
Main Authors: Klančar, Gašper, Blatnik, Ana, Šetrajčič Dragoš, Vita, Vogrič, Vesna, Stegel, Vida, Blatnik, Olga, Drev, Primož, Gazič, Barbara, Krajc, Mateja, Novaković, Srdjan
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7140785/
https://ncbi.nlm.nih.gov/pubmed/32197529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11030325
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