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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H; Bastian, BC; Speicher, MR.
Germline mutations in BAP1 predispose to melanocytic tumors.
Nat Genet. 2011; 43(10):1018-1021
Doi: 10.1038/ng.910
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- Leading authors Med Uni Graz
- Speicher Michael
- Wiesner Thomas
- Co-authors Med Uni Graz
- Becker Jürgen Christian
- Cerroni Lorenzo
- Fried Isabella
- Obenauf Anna Christina
- Ott Arthur
- Ulz Peter
- Wackernagel Werner
- Windpassinger Christian
- Wolf Ingrid
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- Abstract:
- Common acquired melanocytic nevi are benign neoplasms that are composed of small, uniform melanocytes and are typically present as flat or slightly elevated pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple, skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected individuals developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of BAP1, which encodes a ubiquitin carboxy-terminal hydrolase. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histological similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm.
- Find related publications in this database (using NLM MeSH Indexing)
- Female -
- Germ-Line Mutation -
- Humans -
- Male -
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- Pedigree -
- Skin Neoplasms - genetics
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