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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...

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Detalles Bibliográficos
Autores principales: Singh, Ashish Kumar, Talseth-Palmer, Bente, McPhillips, Mary, Lavik, Liss Anne Solberg, Xavier, Alexandre, Drabløs, Finn, Sjursen, Wenche
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7340288/
https://www.ncbi.nlm.nih.gov/pubmed/32634176
http://dx.doi.org/10.1371/journal.pone.0235613