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A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

Autor: Wadt, K A W, Aoude, L G, Johansson, P, Solinas, A, Pritchard, A, Crainic, O, Andersen, M T, Kiilgaard, J F, Heegaard, S, Sunde, L, Federspiel, B, Madore, J, Thompson, J F, McCarthy, S W, Goodwin, A, Tsao, H, Jönsson, G, Busam, K, Gupta, R, Trent, J M, Gerdes, A-M, Brown, K M, Scolyer, R A, Hayward, N K

Publikováno v: Wadt, K A W, Aoude, L G, Johansson, P, Solinas, A, Pritchard, A, Crainic, O, Andersen, M T, Kiilgaard, J F, Heegaard, S, Sunde, L, Federspiel, B, Madore, J, Thompson, J F, McCarthy, S W, Goodwin, A, Tsao, H, Jönsson, G, Busam, K, Gupta, R, Trent, J M, Gerdes, A-M, Brown, K M, Scolyer, R A & Hayward, N K 2015, ' A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma ', Clinical Genetics, vol. 88, no. 3, pp. 267-72 . https://doi.org/10.1111/cge.12501

We report four previously undescribed families with germline BRCA1-associated protein-1 gene (BAP1) mutations and expand the clinical phenotype of this tumor syndrome. The tumor spectrum in these families is predominantly uveal malignant melanoma (UM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8683177f95e9340fad7ecbc1055bfad4
https://pubmed.ncbi.nlm.nih.gov/25225168

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