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BAP1-Mutant Clear Cell Renal Cell Carcinoma

MedGen UID:
1675671
•Concept ID:
C4763743
•
Neoplastic Process

Definition

A clear cell renal cell carcinoma that is associated with a mutation in BAP1 gene. These tumors are typically high grade and associated with poor outcome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBAP1-Mutant Clear Cell Renal Cell Carcinoma

Professional guidelines

PubMed

Exploring synthetic lethal network for the precision treatment of clear cell renal cell carcinoma.
Liu Z, Lin D, Zhou Y, Zhang L, Yang C, Guo B, Xia F, Li Y, Chen D, Wang C, Chen Z, Leng C, Xiao Z
Sci Rep 2022 Aug 2;12(1):13222. doi: 10.1038/s41598-022-16657-7. PMID: 35918352Free PMC Article

Recent clinical studies

Etiology

CCR5 blockade inflames antitumor immunity in BAP1-mutant clear cell renal cell carcinoma.
Zhou Q, Qi Y, Wang Z, Zeng H, Zhang H, Liu Z, Huang Q, Xiong Y, Wang J, Chang Y, Bai Q, Xia Y, Wang Y, Liu L, Xu L, Dai B, Guo J, Zhu Y, Zhang W, Xu J
J Immunother Cancer 2020 Apr;8(1) doi: 10.1136/jitc-2019-000228. PMID: 32371459Free PMC Article
Endogenous retrovirus expression is associated with response to immune checkpoint blockade in clear cell renal cell carcinoma.
Panda A, de Cubas AA, Stein M, Riedlinger G, Kra J, Mayer T, Smith CC, Vincent BG, Serody JS, Beckermann KE, Ganesan S, Bhanot G, Rathmell WK
JCI Insight 2018 Aug 23;3(16) doi: 10.1172/jci.insight.121522. PMID: 30135306Free PMC Article
Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation.
Kapur P, Peña-Llopis S, Christie A, Zhrebker L, Pavía-Jiménez A, Rathmell WK, Xie XJ, Brugarolas J
Lancet Oncol 2013 Feb;14(2):159-167. Epub 2013 Jan 16 doi: 10.1016/S1470-2045(12)70584-3. PMID: 23333114Free PMC Article

Diagnosis

BAP1 loss augments sensitivity to BET inhibitors in cancer cells.
Xu YY, Ren ZL, Liu XL, Zhang GM, Huang SS, Shi WH, Ye LX, Luo X, Liu SW, Li YL, Yu L
Acta Pharmacol Sin 2022 Jul;43(7):1803-1815. Epub 2021 Nov 4 doi: 10.1038/s41401-021-00783-5. PMID: 34737422Free PMC Article

Therapy

Dual Screen for Efficacy and Toxicity Identifies HDAC Inhibitor with Distinctive Activity Spectrum for BAP1-Mutant Uveal Melanoma.
Kuznetsoff JN, Owens DA, Lopez A, Rodriguez DA, Chee NT, Kurtenbach S, Bilbao D, Roberts ER, Volmar CH, Wahlestedt C, Brothers SP, Harbour JW
Mol Cancer Res 2021 Feb;19(2):215-222. Epub 2020 Oct 19 doi: 10.1158/1541-7786.MCR-20-0434. PMID: 33077485Free PMC Article
CCR5 blockade inflames antitumor immunity in BAP1-mutant clear cell renal cell carcinoma.
Zhou Q, Qi Y, Wang Z, Zeng H, Zhang H, Liu Z, Huang Q, Xiong Y, Wang J, Chang Y, Bai Q, Xia Y, Wang Y, Liu L, Xu L, Dai B, Guo J, Zhu Y, Zhang W, Xu J
J Immunother Cancer 2020 Apr;8(1) doi: 10.1136/jitc-2019-000228. PMID: 32371459Free PMC Article
Endogenous retrovirus expression is associated with response to immune checkpoint blockade in clear cell renal cell carcinoma.
Panda A, de Cubas AA, Stein M, Riedlinger G, Kra J, Mayer T, Smith CC, Vincent BG, Serody JS, Beckermann KE, Ganesan S, Bhanot G, Rathmell WK
JCI Insight 2018 Aug 23;3(16) doi: 10.1172/jci.insight.121522. PMID: 30135306Free PMC Article

Prognosis

Exploring synthetic lethal network for the precision treatment of clear cell renal cell carcinoma.
Liu Z, Lin D, Zhou Y, Zhang L, Yang C, Guo B, Xia F, Li Y, Chen D, Wang C, Chen Z, Leng C, Xiao Z
Sci Rep 2022 Aug 2;12(1):13222. doi: 10.1038/s41598-022-16657-7. PMID: 35918352Free PMC Article
CCR5 blockade inflames antitumor immunity in BAP1-mutant clear cell renal cell carcinoma.
Zhou Q, Qi Y, Wang Z, Zeng H, Zhang H, Liu Z, Huang Q, Xiong Y, Wang J, Chang Y, Bai Q, Xia Y, Wang Y, Liu L, Xu L, Dai B, Guo J, Zhu Y, Zhang W, Xu J
J Immunother Cancer 2020 Apr;8(1) doi: 10.1136/jitc-2019-000228. PMID: 32371459Free PMC Article
Endogenous retrovirus expression is associated with response to immune checkpoint blockade in clear cell renal cell carcinoma.
Panda A, de Cubas AA, Stein M, Riedlinger G, Kra J, Mayer T, Smith CC, Vincent BG, Serody JS, Beckermann KE, Ganesan S, Bhanot G, Rathmell WK
JCI Insight 2018 Aug 23;3(16) doi: 10.1172/jci.insight.121522. PMID: 30135306Free PMC Article
Tissue-specific significance of BAP1 gene mutation in prognostic prediction and molecular taxonomy among different types of cancer.
Wang XY, Wang Z, Huang JB, Ren XD, Ye D, Zhu WW, Qin LX
Tumour Biol 2017 Jun;39(6):1010428317699111. doi: 10.1177/1010428317699111. PMID: 28618948

Clinical prediction guides

BAP1 loss augments sensitivity to BET inhibitors in cancer cells.
Xu YY, Ren ZL, Liu XL, Zhang GM, Huang SS, Shi WH, Ye LX, Luo X, Liu SW, Li YL, Yu L
Acta Pharmacol Sin 2022 Jul;43(7):1803-1815. Epub 2021 Nov 4 doi: 10.1038/s41401-021-00783-5. PMID: 34737422Free PMC Article
Endogenous retrovirus expression is associated with response to immune checkpoint blockade in clear cell renal cell carcinoma.
Panda A, de Cubas AA, Stein M, Riedlinger G, Kra J, Mayer T, Smith CC, Vincent BG, Serody JS, Beckermann KE, Ganesan S, Bhanot G, Rathmell WK
JCI Insight 2018 Aug 23;3(16) doi: 10.1172/jci.insight.121522. PMID: 30135306Free PMC Article
Tissue-specific significance of BAP1 gene mutation in prognostic prediction and molecular taxonomy among different types of cancer.
Wang XY, Wang Z, Huang JB, Ren XD, Ye D, Zhu WW, Qin LX
Tumour Biol 2017 Jun;39(6):1010428317699111. doi: 10.1177/1010428317699111. PMID: 28618948

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