Germline BAP1 mutations predispose also to multiple basal cell carcinomas.

  title={Germline BAP1 mutations predispose also to multiple basal cell carcinomas.},
  author={Arnaud de la Fouchardi{\`e}re and Odile Cabaret and Lora Savin and Patrick Combemale and H Schvartz and Clotilde Penet and Val{\'e}rie Bonadona and Nadem Soufir and Brigitte Bressac-de Paillerets},
  journal={Clinical genetics},
  volume={88 3},
The BRCA1-associated protein 1 (BAP1) gene encodes a nuclear deubiquitin enzyme which acts as a tumour suppressor. Loss of function germline mutations of BAP1 have been associated with an enhanced risk of uveal and cutaneous melanomas, mesothelioma, clear cell renal cancer and atypical cutaneous melanocytic proliferations. In two independent BAP1 families, we noticed an unusual frequency of basal cell carcinomas (BCCs). Indeed, 19 BCCs were diagnosed in four patients, either of superficial (13… CONTINUE READING
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