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Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer

Germline variants inactivating the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome that implies an increased cancer risk, where colon and endometrial cancer are the most frequent. Identification of these pathogenic variants is important to identify endometrial cancer patie...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:PLoS One
Hauptverfasser: Singh, Ashish Kumar, Talseth-Palmer, Bente, McPhillips, Mary, Lavik, Liss Anne Solberg, Xavier, Alexandre, Drabløs, Finn, Sjursen, Wenche
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2020
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7340288/
https://ncbi.nlm.nih.gov/pubmed/32634176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0235613
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