A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16

SAM Thomson, SA Rasmussen, J Zhang, MR Wallace - Human genetics, 1999 - Springer
Human genetics, 1999Springer
Abstract Hereditary cylindromatosis (HC; MIM 132700) is an autosomal dominant condition
characterized by benign skin appendage tumors most commonly on the scalp and face.
Previously, the HC gene (CYLD1) was linked to chromosome 16q12–13, and tumors
showed loss of heterozygosity (LOH), suggesting that CYLD1 is a tumor suppressor gene.
Here we report a new multi-generation cylindromatosis family whose condition maps to that
region, with 7/13 tumors showing LOH on 16q.
Abstract
Hereditary cylindromatosis (HC; MIM 132700) is an autosomal dominant condition characterized by benign skin appendage tumors most commonly on the scalp and face. Previously, the HC gene (CYLD1) was linked to chromosome 16q12–13, and tumors showed loss of heterozygosity (LOH), suggesting that CYLD1 is a tumor suppressor gene. Here we report a new multi-generation cylindromatosis family whose condition maps to that region, with 7/13 tumors showing LOH on 16q.
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