Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer

Uveal melanoma (UM) is the most common phenotype in patients with germline BAP1 mutation. This study aimed to identify selection criteria for BAP1 germline testing and assessed the role of large deletion/duplication and epigenetic inactivation. 172 UM patients with high risk of hereditary cancer wer...

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Vydáno v:Genes Chromosomes Cancer
Hlavní autoři: Boru, Getachew, Grosel, Timothy W., Pilarski, Robert, Stautberg, Meredith, Massengill, James B., Jeter, Joanne, Singh, Arun, Marino, Meghan J., McElroy, Joseph P., Davidorf, Frederick H., Cebulla, Colleen M., Abdel-Rahman, Mohamed H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6612571/
https://ncbi.nlm.nih.gov/pubmed/30883995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gcc.22752
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