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Loss of MLH1 confers resistance to PI3Kβ inhibitors in renal clear cell carcinoma with SETD2 mutation.

Feng C, Ding G, Jiang H, Ding Q, Wen H.

Tumour Biol. 2015 May;36(5):3457-64. doi: 10.1007/s13277-014-2981-y. Epub 2014 Dec 21.


High selectivity of PI3Kβ inhibitors in SETD2-mutated renal clear cell carcinoma.

Wang J, Wen J, Yi R, Liu F, Zhou J, Liu G, Li Q, Yang Z, Su X.

J BUON. 2015 Sep-Oct;20(5):1267-75.


PI3Kβ inhibitor TGX221 selectively inhibits renal cell carcinoma cells with both VHL and SETD2 mutations and links multiple pathways.

Feng C, Sun Y, Ding G, Wu Z, Jiang H, Wang L, Ding Q, Wen H.

Sci Rep. 2015 Apr 8;5:9465. doi: 10.1038/srep09465.


Loss of SETD2, but not H3K36me3, correlates with aggressive clinicopathological features of clear cell renal cell carcinoma patients.

Liu L, Guo R, Zhang X, Liang Y, Kong F, Wang J, Xu Z.

Biosci Trends. 2017 May 23;11(2):214-220. doi: 10.5582/bst.2016.01228. Epub 2017 Mar 6.


Expression and Mutation Patterns of PBRM1, BAP1 and SETD2 Mirror Specific Evolutionary Subtypes in Clear Cell Renal Cell Carcinoma.

Bihr S, Ohashi R, Moore AL, Rüschoff JH, Beisel C, Hermanns T, Mischo A, Corrò C, Beyer J, Beerenwinkel N, Moch H, Schraml P.

Neoplasia. 2019 Feb;21(2):247-256. doi: 10.1016/j.neo.2018.12.006. Epub 2019 Jan 16.


NSD1 Inactivation and SETD2 Mutation Drive a Convergence toward Loss of Function of H3K36 Writers in Clear Cell Renal Cell Carcinomas.

Su X, Zhang J, Mouawad R, Compérat E, Rouprêt M, Allanic F, Parra J, Bitker MO, Thompson EJ, Gowrishankar B, Houldsworth J, Weinstein JN, Tost J, Broom BM, Khayat D, Spano JP, Tannir NM, Malouf GG.

Cancer Res. 2017 Sep 15;77(18):4835-4845. doi: 10.1158/0008-5472.CAN-17-0143. Epub 2017 Jul 28.


BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies.

Piva F, Santoni M, Matrana MR, Satti S, Giulietti M, Occhipinti G, Massari F, Cheng L, Lopez-Beltran A, Scarpelli M, Principato G, Cascinu S, Montironi R.

Expert Rev Mol Diagn. 2015;15(9):1201-10. doi: 10.1586/14737159.2015.1068122. Epub 2015 Jul 11. Review.


Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB.

J Clin Oncol. 2014 Jan 10;32(2):90-100. doi: 10.1200/JCO.2013.51.2129. Epub 2013 Dec 9.


SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair.

Kanu N, Grönroos E, Martinez P, Burrell RA, Yi Goh X, Bartkova J, Maya-Mendoza A, Mistrík M, Rowan AJ, Patel H, Rabinowitz A, East P, Wilson G, Santos CR, McGranahan N, Gulati S, Gerlinger M, Birkbak NJ, Joshi T, Alexandrov LB, Stratton MR, Powles T, Matthews N, Bates PA, Stewart A, Szallasi Z, Larkin J, Bartek J, Swanton C.

Oncogene. 2015 Nov 12;34(46):5699-708. doi: 10.1038/onc.2015.24. Epub 2015 Mar 2.


Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network.

Hakimi AA, Ostrovnaya I, Reva B, Schultz N, Chen YB, Gonen M, Liu H, Takeda S, Voss MH, Tickoo SK, Reuter VE, Russo P, Cheng EH, Sander C, Motzer RJ, Hsieh JJ; ccRCC Cancer Genome Atlas (KIRC TCGA) Research Network investigators.

Clin Cancer Res. 2013 Jun 15;19(12):3259-67. doi: 10.1158/1078-0432.CCR-12-3886. Epub 2013 Apr 25.


Functional Studies on Primary Tubular Epithelial Cells Indicate a Tumor Suppressor Role of SETD2 in Clear Cell Renal Cell Carcinoma.

Li J, Kluiver J, Osinga J, Westers H, van Werkhoven MB, Seelen MA, Sijmons RH, van den Berg A, Kok K.

Neoplasia. 2016 Jun;18(6):339-46. doi: 10.1016/j.neo.2016.04.005. Epub 2016 May 26.


Aberrant promoter hypermethylation of PBRM1, BAP1, SETD2, KDM6A and other chromatin-modifying genes is absent or rare in clear cell RCC.

Ibragimova I, Maradeo ME, Dulaimi E, Cairns P.

Epigenetics. 2013 May;8(5):486-93. doi: 10.4161/epi.24552. Epub 2013 May 1.


miR-106b-5p targets tumor suppressor gene SETD2 to inactive its function in clear cell renal cell carcinoma.

Xiang W, He J, Huang C, Chen L, Tao D, Wu X, Wang M, Luo G, Xiao X, Zeng F, Jiang G.

Oncotarget. 2015 Feb 28;6(6):4066-79.


KRAS and BRAF gene mutations and DNA mismatch repair status in Chinese colorectal carcinoma patients.

Ye JX, Liu Y, Qin Y, Zhong HH, Yi WN, Shi XY.

World J Gastroenterol. 2015 Feb 7;21(5):1595-605. doi: 10.3748/wjg.v21.i5.1595.


SETD2 loss sensitizes cells to PI3Kβ and AKT inhibition.

Terzo EA, Lim AR, Chytil A, Chiang YC, Farmer L, Gessner KH, Walker CL, Jansen VM, Rathmell WK.

Oncotarget. 2019 Jan 18;10(6):647-659. doi: 10.18632/oncotarget.26567. eCollection 2019 Jan 18.


Microsatellite instability: an update.

Yamamoto H, Imai K.

Arch Toxicol. 2015 Jun;89(6):899-921. doi: 10.1007/s00204-015-1474-0. Epub 2015 Feb 22. Review.


High-resolution profiling of histone h3 lysine 36 trimethylation in metastatic renal cell carcinoma.

Ho TH, Park IY, Zhao H, Tong P, Champion MD, Yan H, Monzon FA, Hoang A, Tamboli P, Parker AS, Joseph RW, Qiao W, Dykema K, Tannir NM, Castle EP, Nunez-Nateras R, Teh BT, Wang J, Walker CL, Hung MC, Jonasch E.

Oncogene. 2016 Mar 24;35(12):1565-74. doi: 10.1038/onc.2015.221. Epub 2015 Jun 15.


Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair.

Mohd AB, Palama B, Nelson SE, Tomer G, Nguyen M, Huo X, Buermeyer AB.

DNA Repair (Amst). 2006 Mar 7;5(3):347-61. Epub 2005 Dec 9.


Interdependence of DNA mismatch repair proteins MLH1 and MSH2 in apoptosis in human colorectal carcinoma cell lines.

Hassen S, Ali AA, Kilaparty SP, Al-Anbaky QA, Majeed W, Boman BM, Fields JZ, Ali N.

Mol Cell Biochem. 2016 Jan;412(1-2):297-305. doi: 10.1007/s11010-015-2636-3. Epub 2016 Jan 4.


Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.

Vogelsang M, Comino A, Zupanec N, Hudler P, Komel R.

BMC Cancer. 2009 Oct 28;9:382. doi: 10.1186/1471-2407-9-382.

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