Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

BACKGROUND: Lynch syndrome is a hereditary cancer syndrome associated with high risks of colorectal and endometrial cancer that is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM). Accurate classification of variants identified in these genes as pathogenic o...

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Detalles Bibliográficos
Autores principales: Morris, Brian, Hughes, Elisha, Rosenthal, Eric, Gutin, Alexander, Bowles, Karla R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929734/
https://www.ncbi.nlm.nih.gov/pubmed/27363726
http://dx.doi.org/10.1186/s12863-016-0407-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929734/
https://www.ncbi.nlm.nih.gov/pubmed/27363726
http://dx.doi.org/10.1186/s12863-016-0407-0

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