Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma

Mukhana, L; Aissa, A. Ait; Ahmed, Adnan; Saakyan, S.V.; Tsygankov, Alexander Y.; Благонравов, М. Л.; Азова, М. М.

doi:10.1007/s10517-023-05875-2

Cited by 2 publications

(2 citation statements)

References 15 publications

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Section: Genetic Landscape Of Um: Latest Findingsmentioning

confidence: 99%

“…Recent research has identified polymorphisms in BARD1 (breast cancer 1 (BRCA1) associated RING domain 1; rs1048108, rs2229571 and rs2070094) and BRIP1 (BRCA1 interacting protein helicase 1; rs4986764) genes in patients with UM and progressive choroidal nevus (i.e., small melanocytic neoplasm with signs of growth within 2 years of observation) [ 83 ]. These findings are currently being explored to assess risk groups, prevention and diagnosis of UM and intraocular neoplasms [ 83 ]. In addition to these findings, a particular case study has further emphasized the genetic complexity of UM, revealing the presence of multiple mutations, including a mutation in the PBRM1 (polybromo 1) gene coding for the BAF180 (BRG1-associated factor 180) protein involved in chromatin remodeling [ 84 ].…”

Section: Genetic Landscape Of Um: Latest Findingsmentioning

confidence: 99%

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Recent Advances in Molecular and Genetic Research on Uveal Melanoma

Fuentes-Rodriguez,

Mitchell,

Guérin

et al. 2024

Cells

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Uveal melanoma (UM), a distinct subtype of melanoma, presents unique challenges in its clinical management due to its complex molecular landscape and tendency for liver metastasis. This review highlights recent advancements in understanding the molecular pathogenesis, genetic alterations, and immune microenvironment of UM, with a focus on pivotal genes, such as GNAQ/11, BAP1, and CYSLTR2, and delves into the distinctive genetic and chromosomal classifications of UM, emphasizing the role of mutations and chromosomal rearrangements in disease progression and metastatic risk. Novel diagnostic biomarkers, including circulating tumor cells, DNA and extracellular vesicles, are discussed, offering potential non-invasive approaches for early detection and monitoring. It also explores emerging prognostic markers and their implications for patient stratification and personalized treatment strategies. Therapeutic approaches, including histone deacetylase inhibitors, MAPK pathway inhibitors, and emerging trends and concepts like CAR T-cell therapy, are evaluated for their efficacy in UM treatment. This review identifies challenges in UM research, such as the limited treatment options for metastatic UM and the need for improved prognostic tools, and suggests future directions, including the discovery of novel therapeutic targets, immunotherapeutic strategies, and advanced drug delivery systems. The review concludes by emphasizing the importance of continued research and innovation in addressing the unique challenges of UM to improve patient outcomes and develop more effective treatment strategies.

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Section: Genetic Landscape Of Um: Latest Findingsmentioning

confidence: 99%

Section: Genetic Landscape Of Um: Latest Findingsmentioning

confidence: 99%

Recent Advances in Molecular and Genetic Research on Uveal Melanoma

Fuentes-Rodriguez,

Mitchell,

Guérin

et al. 2024

Cells

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Genetic Features of Uveal Melanoma

Sorrentino,

Culiersi,

Florido

et al. 2024

Genes

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Background/Objectives: Although it comprises only 5% of all melanomas, uveal melanoma (UM) is the most commonly observed primary intraocular cancer. Methods: Poor patient survival persists in spite of innovative systemic therapies. In fact, approximately fifty percent of UM patients develop metastases from micro-metastases that remain undetected at the exact time of diagnosis. Results: The molecular understanding of UM is significantly enhanced by the recent identification of several mutations that are responsible for the metastasis, growth, and survival of UM. The crucial point is a more accurate genetic analysis for patient follow-up and metastatic risk prediction. Conclusions: This review provides a brief summary of the molecular features of UM that are recently discovered, as well as cytogenetic markers and biochemical pathways that are associated with the development of UM metastases.

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Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma

Cited by 2 publications

References 15 publications

Recent Advances in Molecular and Genetic Research on Uveal Melanoma

Recent Advances in Molecular and Genetic Research on Uveal Melanoma

Genetic Features of Uveal Melanoma

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