Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome

BACKGROUND: Lynch Syndrome (LS) is caused by germline mutations in the DNA mismatch repair (MMR) genes with mutations in MLH1 accounting for ~40% of LS‐related alterations. METHODS: MSK‐IMPACT analysis was performed on peripheral blood from a patient with early‐ onset colorectal cancer. Subsequently...

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Detalles Bibliográficos
Autores principales: Li, Yirong, Salo‐Mullen, Erin, Varghese, Anna, Trottier, Magan, Stadler, Zsofia K., Zhang, Liying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767547/
https://www.ncbi.nlm.nih.gov/pubmed/33058565
http://dx.doi.org/10.1002/mgg3.1523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767547/
https://www.ncbi.nlm.nih.gov/pubmed/33058565
http://dx.doi.org/10.1002/mgg3.1523

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