Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents

Recently, biallelic germline variants of the DNA glycosylase genes MUTYH and NTHL1 were linked to polyposis susceptibility. Significant fractions remain without a molecular explanation, warranting searches for underlying causes. We used exome sequencing to investigate clinically well-defined adenoma...

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Detalles Bibliográficos
Autores principales: Olkinuora, Alisa Petriina, Mayordomo, Andrea Constanza, Kauppinen, Anni Katariina, Cerliani, María Belén, Coraglio, Mariana, Collia, Ávila Karina, Gutiérrez, Alejandro, Alvarez, Karin, Cassana, Alessandra, Lopéz-Köstner, Francisco, Jauk, Federico, García-Rivello, Hernán, Ristimäki, Ari, Koskenvuo, Laura, Lepistö, Anna, Nieminen, Taina Tuulikki, Vaccaro, Carlos Alberto, Pavicic, Walter Hernán, Peltomäki, Päivi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650540/
https://www.ncbi.nlm.nih.gov/pubmed/36387175
http://dx.doi.org/10.3389/fonc.2022.870863

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650540/
https://www.ncbi.nlm.nih.gov/pubmed/36387175
http://dx.doi.org/10.3389/fonc.2022.870863

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