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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Detalles Bibliográficos
Autores principales: Klančar, Gašper, Blatnik, Ana, Šetrajčič Dragoš, Vita, Vogrič, Vesna, Stegel, Vida, Blatnik, Olga, Drev, Primož, Gazič, Barbara, Krajc, Mateja, Novaković, Srdjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140785/
https://www.ncbi.nlm.nih.gov/pubmed/32197529
http://dx.doi.org/10.3390/genes11030325

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140785/
https://www.ncbi.nlm.nih.gov/pubmed/32197529
http://dx.doi.org/10.3390/genes11030325

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