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...
Main Authors: | Gašper Klančar, Ana Blatnik, Vita Šetrajčič Dragoš, Vesna Vogrič, Vida Stegel, Olga Blatnik, Primož Drev, Barbara Gazič, Mateja Krajc, Srdjan Novaković |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-03-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/11/3/325 |
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