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A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

Wadt, K. A. W.; Aoude, L. G.; Johansson, P.; Solinas, A.; Pritchard, A.; Crainic, O.; Andersen, M. T.; Kiilgaard, J. F.; Heegaard, S. and Sunde, L., et al. (2015) In Clinical Genetics 88(3). p.267-272
Abstract
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 one previously reported family, developed basal cell carcinoma (BCC), thus suggesting inclusion of BCC in the phenotypic spectrum of the BAP1 tumor syndrome. This notion is supported by the finding of loss of BAP1 protein expression by immunochemistry in two BCCs from individuals with germline BAP1 mutations and no loss of BAP1... (More)
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 one previously reported family, developed basal cell carcinoma (BCC), thus suggesting inclusion of BCC in the phenotypic spectrum of the BAP1 tumor syndrome. This notion is supported by the finding of loss of BAP1 protein expression by immunochemistry in two BCCs from individuals with germline BAP1 mutations and no loss of BAP1 staining in 53 of sporadic BCCs consistent with somatic mutations and loss of heterozygosity of the gene in the BCCs occurring in mutation carriers. Lastly, we identify the first reported recurrent mutation in BAP1 (p.R60X), which occurred in three families from two different continents. In two of the families, the mutation was inherited from a common founder but it arose independently in the third family. (Less)
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publication status
published
subject
keywords
BAP1, BCC, cancer predisposition syndrome, germline mutation, melanoma, unknown primary tumor
in
Clinical Genetics
volume
88
issue
3
pages
267 - 272
publisher
Wiley-Blackwell
external identifiers
  • wos:000359064800010
  • scopus:84938844516
ISSN
0009-9163
DOI
10.1111/cge.12501
language
English
LU publication?
yes
id
656d26bc-6df0-42c2-9868-f7609eb99269 (old id 7975750)
date added to LUP
2015-10-01 07:35:18
date last changed
2017-11-05 03:02:21
@article{656d26bc-6df0-42c2-9868-f7609eb99269,
  abstract     = {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 one previously reported family, developed basal cell carcinoma (BCC), thus suggesting inclusion of BCC in the phenotypic spectrum of the BAP1 tumor syndrome. This notion is supported by the finding of loss of BAP1 protein expression by immunochemistry in two BCCs from individuals with germline BAP1 mutations and no loss of BAP1 staining in 53 of sporadic BCCs consistent with somatic mutations and loss of heterozygosity of the gene in the BCCs occurring in mutation carriers. Lastly, we identify the first reported recurrent mutation in BAP1 (p.R60X), which occurred in three families from two different continents. In two of the families, the mutation was inherited from a common founder but it arose independently in the third family.},
  author       = {Wadt, K. A. W. and Aoude, L. G. and Johansson, P. and Solinas, A. and Pritchard, A. and Crainic, O. and Andersen, M. T. and Kiilgaard, J. F. and Heegaard, S. and Sunde, L. and Federspiel, B. and Madore, J. and Thompson, J. F. and McCarthy, S. W. and Goodwin, A. and Tsao, H. and Jönsson, Göran B and Busam, K. and Gupta, R. and Trent, J. M. and Gerdes, A. -M. and Brown, K. M. and Scolyer, R. A. and Hayward, N. K.},
  issn         = {0009-9163},
  keyword      = {BAP1,BCC,cancer predisposition syndrome,germline mutation,melanoma,unknown primary tumor},
  language     = {eng},
  number       = {3},
  pages        = {267--272},
  publisher    = {Wiley-Blackwell},
  series       = {Clinical Genetics},
  title        = {A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma},
  url          = {http://dx.doi.org/10.1111/cge.12501},
  volume       = {88},
  year         = {2015},
}