Article
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma.
Clinical genetics - 1 Sept 2015
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
Abstract excerpt
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 (UMM), cutaneous malignant melanoma (CMM) and mesothelioma, as previously reported for germline BAP1 mutations. However, mutation carriers from three new families, and...
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