Document Detail


Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases.
MedLine Citation:
PMID:  23153182     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
In a seminal study by Harbour and colleagues somatic mutations of BAP1 (BRCA-1 associated protein 1) were found to occur in 84% of metastasizing uveal melanomas (Harbour et al., 2010). Additionally, this study reported one germline mutation. Subsequent studies have shown that germline mutations of BAP1 predispose to uveal and cutaneous melanoma as well as mesothelioma and a range of other tumour types (Abdel-Rahman et al., 2011; Testa et al., 2011; Wadt et al., 2012). To date there have been no studies assessing the contribution of BAP1 mutation to a population-based sample of uveal melanoma (UMM) cases, although Tsao and co-workers have shown that BAP1 contributes to a small proportion of selected UMM cases from a clinic-based sample (Njauw et al., 2012). Here, we sought to determine the prevalence of germline BAP1 mutations in a population-based sample of Australian UMM cases to gain a better understanding of the relative contribution of BAP1 mutation to UMM susceptibility. © 2012 John Wiley & Sons A/S.
Authors:
Lauren G Aoude; Claire M Vajdic; Anne Kricker; Bruce Armstrong; Nicholas K Hayward
Publication Detail:
Type:  LETTER     Date:  2012-11-15
Journal Detail:
Title:  Pigment cell & melanoma research     Volume:  -     ISSN:  1755-148X     ISO Abbreviation:  Pigment Cell Melanoma Res     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101318927     Medline TA:  Pigment Cell Melanoma Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Affiliation:
Oncogenomics Laboratory, Queensland Institute of Medical Research, Brisbane, QLD, Australia.
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