BAP1 and Breast Cancer Risk

Coupier, Isabelle; Cousin, Pierre-Yves; Hughes, David J.; Legoix-Né, Patricia; Trehin, Alexandra; Stoppa‐Lyonnet, Dominique

doi:10.1007/s10689-005-2833-4

Cited by 23 publications

(17 citation statements)

References 25 publications

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“…The BAP1 analysis led to the identification of the c.1026C4T (Ser342Ser) variant, which was reported once in a cohort of 47 French familial breast cancer cases negative for BRCA1/BRCA2 mutations. 31 Interestingly the common c.2190+444C4T sequence variation localized in the 3¢UTR region was identified in our population with a MAF45% in both series but was not analyzed in the French cohort. 31 As for DHX9 sequence variations, we report here the first assessment of its implication in breast cancer.…”

Section: Brca1-interacting Gene Variants In Boc Families F Guénard Et Almentioning

confidence: 58%

“…31 Interestingly the common c.2190+444C4T sequence variation localized in the 3¢UTR region was identified in our population with a MAF45% in both series but was not analyzed in the French cohort. 31 As for DHX9 sequence variations, we report here the first assessment of its implication in breast cancer. Of the six sequence variants identified, four are rare, novel variants, two of which being missense variants.…”

Section: Brca1-interacting Gene Variants In Boc Families F Guénard Et Almentioning

confidence: 58%

“…Although AURKA and BARD1 genes have been investigated in tumor samples, population-based studies or high-risk families, only one investigation assessed the involvement of BAP1 in breast cancer susceptibility. 31 The Phe31Ile variant was reported to confer an increased risk of breast cancer, either alone or in combination with Val57Ile. [18][19][20][21]23,27 However, our study and others did not replicate this association.…”

Section: Discussionmentioning

confidence: 99%

“…28 On the other hand, a study on 47 non-BRCA1/BRCA2 familial breast cancer cases from the French population did not reveal any association with breast cancer predisposition. 31 The BARD1 protein interacts with BRCA1 and both proteins form a complex which possesses a dual E3 ubiquitin ligase activity. 32 The heterodimer BRCA1/BARD1 promotes its own ubiquitination 33 and ubiquitinates RNA pol II subunit A.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Brca1-interacting Gene Variants In Boc Families F Guénard Et Almentioning

confidence: 58%

Section: Brca1-interacting Gene Variants In Boc Families F Guénard Et Almentioning

confidence: 58%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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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“…Involvement of Bap1 as a DUB in the BRCA1 pathway remains controversial and a firm link to breast cancer predisposition has not been established (4,28,33). However, it has been shown the BAP1 gene undergoes frequent loss of heterozygosity in human tumors, and missense mutations have been identified in lung, renal, and sporadic breast tumors (1,3).…”

mentioning

confidence: 99%

Association of C-Terminal Ubiquitin Hydrolase BRCA1-Associated Protein 1 with Cell Cycle Regulator Host Cell Factor 1

Misaghi¹,

Ottosen

Izrael-Tomasevic³

et al. 2009

Molecular and Cellular Biology

189

210

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Protein ubiquitination provides an efficient and reversible mechanism to regulate cell cycle progression and checkpoint control. Numerous regulatory proteins direct the addition of ubiquitin to lysine residues on target proteins, and these are countered by an army of deubiquitinating enzymes (DUBs). BRCA1-associated protein-1 (Bap1) is a ubiquitin carboxy-terminal hydrolase and is frequently mutated in lung and sporadic breast tumors. Bap1 can suppress growth of lung cancer cells in athymic nude mice and this requires its DUB activity. We show here that Bap1 interacts with host cell factor 1 (HCF-1), a transcriptional cofactor found in a number of important regulatory complexes. Bap1 binds to the HCF-1 ␤-propeller using a variant of the HCF-binding motif found in herpes simplex virus VP16 and other HCF-interacting proteins. HCF-1 is K48 and K63 ubiquitinated, with a major site of linkage at lysines 1807 and 1808 in the HCF-1 C subunit. Expression of a catalytically inactive version of Bap1 results in the selective accumulation of K48 ubiquitinated polypeptides. Depletion of Bap1 using small interfering RNA results in a modest accumulation of HCF-1 C , suggesting that Bap1 helps to control cell proliferation by regulating HCF-1 protein levels and by associating with genes involved in the G 1 -S transition.

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BAP1 suppresses prostate cancer progression by deubiquitinating and stabilizing PTEN

Deng

Guo

et al. 2020

Molecular Oncology

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Deubiquitinase BAP1 is an important tumor suppressor in several malignancies, but its functions and critical substrates in prostate cancer (PCa) remain unclear. Here, we report that the mRNA and protein expression levels of BAP1 are downregulated in clinical PCa specimens. BAP1 can physically bind to and deubiquitinate PTEN, which inhibits the ubiquitination-mediated degradation of PTEN and thus stabilizes PTEN protein. Ectopically expressed BAP1 in PCa cells increases PTEN protein level and subsequently inhibits the AKT signaling pathway, thus suppressing PCa progression. Conversely, knockdown of BAP1 in PCa cells leads to the decrease in PTEN protein level and the activation of the Akt signaling pathway, therefore promoting malignant transformation and cancer metastasis. However, these can be reversed by the re-expression of PTEN. More importantly, we found that BAP1 protein level positively correlates with PTEN in a substantial fraction of human cancers. These findings demonstrate that BAP1 is an important deubiquitinase of PTEN for its stability and the BAP1-PTEN signaling axis plays a crucial role in tumor suppression.

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BAP1 and Breast Cancer Risk

Cited by 23 publications

References 25 publications

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

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

Association of C-Terminal Ubiquitin Hydrolase BRCA1-Associated Protein 1 with Cell Cycle Regulator Host Cell Factor 1

BAP1 suppresses prostate cancer progression by deubiquitinating and stabilizing PTEN

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