Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome

BACKGROUND: Lynch syndrome is one of the most common cancer predisposition syndromes. It is caused by inherited changes in the mismatch repair pathway. With current diagnostic approaches, a causative genetic variant can be found in less than 50% of cases. A correct diagnosis is important for ensurin...

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Detalles Bibliográficos
Autores principales: Witt, Dennis, Faust, Ulrike, Strobl‐Wildemann, Gertrud, Sturm, Marc, Buchert, Rebecca, Zuleger, Theresia, Admard, Jakob, Casadei, Nicolas, Ossowski, Stephan, Haack, Tobias B., Rieß, Olaf, Schroeder, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265068/
https://www.ncbi.nlm.nih.gov/pubmed/36760167
http://dx.doi.org/10.1002/mgg3.2151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265068/
https://www.ncbi.nlm.nih.gov/pubmed/36760167
http://dx.doi.org/10.1002/mgg3.2151

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