BAP1, a Candidate Tumor Suppressor Protein That Interacts with BRCA1

Jensen, David E.; Rauscher, Frank J.

doi:10.1111/j.1749-6632.1999.tb09414.x

Cited by 56 publications

(32 citation statements)

References 14 publications

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“…BAP1 (Jensen and Rauscher, 1999), IGSF4 , RRM2 (Gautam and Bepler (2006) Figure 2 Re-expression of CXCL16 in RCC cells results in growth suppression. Equal (molar) amounts of empty vector (EV) and pCDNA3.1-CXCL16 (CXCL16) were transfected into SKRC39 cells.…”

Section: Discussionmentioning

confidence: 99%

Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma

et al. 2008

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Promoter region hypermethylation and transcriptional silencing is a frequent cause of tumour suppressor gene (TSG) inactivation in many human cancers. Previously, to identify candidate epigenetically inactivated TSGs in renal cell carcinoma (RCC), we monitored changes in gene expression in four RCC cell lines after treatment with the demethylating agent 5-azacytidine. This enabled us to identify HAI-2/SPINT2 as a novel epigenetically inactivated candidate RCC TSG. To identify further candidate TSGs, we undertook bioinformatic and molecular genetic evaluation of a further 60 genes differentially expressed after demethylation. In addition to HAI-2/ SPINT2, four genes (PLAU, CDH1, IGFB3 and MT1G) had previously been shown to undergo promoter methylation in RCC. After bioinformatic prioritisation, expression and/or methylation analysis of RCC cell lines ± primary tumours was performed for 34 genes. KRT19 and CXCL16 were methylated in RCC cell lines and primary RCC; however, 22 genes were differentially expressed after demethylation but did not show primary tumour-specific methylation (methylated in normal tissue (n ¼ 1); methylated only in RCC cell lines (n ¼ 9) and not methylated in RCC cell lines (n ¼ 12)). Re-expression of CXCL16 reduced growth of an RCC cell line in vitro. In a summary, a functional epigenomic analysis of four RCC cell lines using microarrays representing 11 000 human genes yielded both known and novel candidate TSGs epigenetically inactivated in RCC, suggesting that this is valid strategy for the identification of novel TSGs and biomarkers.

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Section: Discussionmentioning

confidence: 99%

Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma

et al. 2008

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“…BAP1 has been suggested to be a tumour suppressor gene with a role in cell proliferation and growth inhibition 8 9. It has been suggested that the interaction of BAP1 with host cell factor-1 (HCF-1) is critical for its growth inhibition function 10 11.…”

Section: Introductionmentioning

confidence: 99%

“…It has been suggested that the interaction of BAP1 with host cell factor-1 (HCF-1) is critical for its growth inhibition function 10 11. In addition to UM, somatic mutations in BAP1 have been identified in breast and lung cancers 6 9. However, germline pathogenic mutations have not been identified in patients with breast cancer 12 13…”

Section: Introductionmentioning

confidence: 99%

Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

Abdel‐Rahman

Pilarski

Cebulla

et al. 2011

Journal of Medical Genetics

423

362

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Objective To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer. Design A total of 53 unrelated UM patients with high risk for hereditary cancer and five additional family members of one proband were studied. Mutational screening was carried out by direct sequencing. Results Of the 53 UM patients studied, a single patient was identified with a germline BAP1 truncating mutation, c. 799 C→T (p.Q267X), which segregated in several family members and was associated with UM and other cancers. Biallelic inactivation of BAP1 and decreased BAP1 expression were identified in the UM, lung adenocarcinoma and meningioma tumours from three family members with this germline BAP1 mutation. Germline BAP1 variants of uncertain significance, likely non-pathogenic, were also identified in two additional UM patients. Conclusion This study reports a novel hereditary cancer syndrome caused by a germline BAP1 mutation that predisposes patients to UM, lung carcinoma, meningioma, and possibly other cancers. The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes.

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“…28 BAP1 was suggested to regulate the BRCA1/BRCA2-RAD51 DNA repair complex. 29 Given the known implication of BRCA1 in DNA repair 12 and its interaction with RNA pol II, 11 which is linked to transcription-coupled repair (TCR) processes, a role for BAP1 in TCR has been suggested. 30 It has been reported that mutation of an amino acid of BAP1 in its BRCA1-binding domain (L691P) abolishes the BAP1-BRCA1 interaction.…”

Section: Introductionmentioning

confidence: 99%

Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian Families with high risk of breast cancer

et al. 2009

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Breast cancer is a heterogeneous disease displaying some degree of familial clustering. Highly penetrant breast cancer susceptibility genes represent approximately 20-25% of the familial aggregation of breast cancer. A significant proportion of this familial aggregation of breast cancer is thus yet to be explained by other breast cancer susceptibility genes. Given the high susceptibility conferred by the two major breast cancer predisposition genes, BRCA1 and BRCA2 and the implication of these genes in many key cellular processes, assessment of genes encoding BRCA1-interacting proteins as plausible breast cancer candidate genes is thus attractive. In this study, four genes encoding BRCA1-interacting proteins were analyzed in a cohort of 96 breast cancer individuals from high-risk non-BRCA1/BRCA2 French Canadian families. Although no deleterious truncating germline mutations or aberrant spliced mRNA species were identified, a total of 10, 4, 11 and 6 variants were found in the AURKA, BAP1, BARD1 and DHX9 genes, respectively. The allele frequency of each variant was further ascertained in a cohort of 98 healthy French Canadian unrelated women and a difference in allele frequency was observed for one BARD1 variant based on single-marker analysis. Haplotype estimation, haplotype blocks and tagging SNPs identification were then performed for each gene, providing a valuable tool for further searches of common disease-associated variants in these genes and therefore further analyses on these genes in larger cohorts is warranted in the search of low-to-moderate penetrance breast cancer susceptibility alleles.

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BAP1, a Candidate Tumor Suppressor Protein That Interacts with BRCA1

Cited by 56 publications

References 14 publications

Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma

Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma

Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian Families with high risk of breast cancer

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