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

A Novel Germline <i>MLH1</i> 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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Bibliographic Details
Main Authors: Gašper Klančar, Ana Blatnik, Vita Šetrajčič Dragoš, Vesna Vogrič, Vida Stegel, Olga Blatnik, Primož Drev, Barbara Gazič, Mateja Krajc, Srdjan Novaković
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:Genes
Subjects:
lynch syndrome
mmr
novel <i>mlh1</i> variant
segregation analysis
isolated pms2 loss
Online Access:https://www.mdpi.com/2073-4425/11/3/325

Internet

https://www.mdpi.com/2073-4425/11/3/325

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