Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

BACKGROUND: Pathogenic variants in the CDKN2A gene are generally associated with the development of melanoma and pancreatic ductal adenocarcinoma (PDAC), but specific genotype-phenotype correlations might exist and the extent of PDAC risk is not well established for many variants. METHODS: Using the...

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Vydáno v:J Med Genet
Hlavní autoři: Overbeek, Kasper A, Rodríguez-Girondo, Mar DM, Wagner, Anja, van der Stoep, Nienke, van den Akker, Peter C, Oosterwijk, Jan C, van Os, Theo A, van der Kolk, Lizet E, Vasen, Hans F A, Hes, Frederik J, Cahen, Djuna L, Bruno, Marco J, Potjer, Thomas P
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2021
Témata:
Genotype-Phenotype Correlations
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8005797/
https://ncbi.nlm.nih.gov/pubmed/32482799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106562
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