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., Sunde, L., Federspiel, B., Madore, J., Thompson, J. F., Mccarthy, S. W., Goodwin, A., Tsao, H., Jonsson, G., Busam, K., Gupta, R., Trent, J. M., Gerdes, A. -M., Brown, K. M., Scolyer, R. A. and Hayward, N. K. (2015) A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clinical Genetics, 88 3: 267-272. doi:10.1111/cge.12501

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Author 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.
Jonsson, G.
Busam, K.
Gupta, R.
Trent, J. M.
Gerdes, A. -M.
Brown, K. M.
Scolyer, R. A.
Hayward, N. K.
Title A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma
Journal name Clinical Genetics   Check publisher's open access policy
ISSN 1399-0004
0009-9163
Publication date 2015-09-01
Year available 2015
Sub-type Article (original research)
DOI 10.1111/cge.12501
Open Access Status Not Open Access
Volume 88
Issue 3
Start page 267
End page 272
Total pages 6
Place of publication Hoboken, NJ, United States
Publisher Wiley-Blackwell Publishing
Language eng
Subject 1311 Genetics
2716 Genetics (clinical)
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.
Formatted 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.
Keyword BAP1
BCC
Cancer predisposition syndrome
Germline mutation
Melanoma
Unknown primary tumor
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID K24 CA14920
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
School of Medicine Publications
 
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