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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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Biological characteristics and clinical management of uveal and conjunctival melanoma.

Autor: KAŠTELAN, SNJEŽANA, PAVIČIĆ, ANA DIDOVIĆ, PAŠALIĆ, DARIA, NIKUŠEVA-MARTIĆ, TAMARA, ČANOVIĆ, SAMIR, KOVAČEVIĆ, PETRA, KONJEVODA, SUZANA

Publikováno v: Oncology Research; 2024, Vol. 32 Issue 8, p1265-1285, 21p

Clinical and pathological characteristics of familial melanoma with germline TERT promoter variants.

Autor: Zaremba, Anne^1,2 (AUTHOR) anne.zaremba@uk‐essen.de, Meier, Friedegund³ (AUTHOR), Schlein, Christian⁴ (AUTHOR), Jansen, Philipp^1,2,5 (AUTHOR), Lodde, Georg^1,2 (AUTHOR), Song, Mingxia^1,2 (AUTHOR), Kretz, Julia^1,2 (AUTHOR), Möller, Inga^1,2 (AUTHOR), Stadtler, Nadine^1,2 (AUTHOR), Livingstone, Elisabeth^1,2 (AUTHOR), Zimmer, Lisa^1,2 (AUTHOR), Hadaschik, Eva^1,2 (AUTHOR), Sucker, Antje^1,2 (AUTHOR), Schadendorf, Dirk^1,2 (AUTHOR), Griewank, Klaus^1,2 (AUTHOR) klaus.griewank@uk‐essen.de

Publikováno v: Pigment Cell & Melanoma Research. Nov2022, Vol. 35 Issue 6, p573-586. 14p.