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Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers

Carriers of pathogenic variants in CDKN2A have a 70% life-time risk of developing melanoma and 15–20% risk of developing pancreatic cancer (PC). In the Netherlands, a 19-bp deletion in exon 2 of CDKN2A (p16-Leiden mutation) accounts for most hereditary melanoma cases. Clinical experience suggests va...

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Detalles Bibliográficos
Autores principales: Christodoulou, E., Visser, M., Potjer, T. P., van der Stoep, N., Rodríguez-Girondo, M., van Doorn, R., Gruis, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784815/
https://www.ncbi.nlm.nih.gov/pubmed/31203567
http://dx.doi.org/10.1007/s10689-019-00137-5