Associated Papers
Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.
Johansson PA et al.
The Journal of Investigative Dermatology, 2026
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM19_ESM.xlsx › extended_data_fig_7_b
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_AD
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.
Haugh AM et al.
Jama Dermatology, 2017
Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.
Carbone M et al.
Plos Genetics, 2015
26683624 (PubMed )
Supplement: pgen.1005633.s003.pdf
Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.
Aoude LG et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2015
Select a paper to view details