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Quoted phrase not found in phrase index: "RNF43 Protein Variant"
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RNF43 pathogenic Germline variant in a family with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ. Mikaeel RR, et al. Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27. Clin Genet. 2022. PMID: 34541672
This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline variant in RNF43. The proband (III:1) and the proband's mother (II:2) were diagnosed with mismatch repair proficient CRCs at the age of …
This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline varian …
A p300/GATA6 axis determines differentiation and Wnt dependency in pancreatic cancer models.
Zhong Z, Harmston N, Wood KC, Madan B, Virshup DM. Zhong Z, et al. J Clin Invest. 2022 Jun 15;132(12):e156305. doi: 10.1172/JCI156305. J Clin Invest. 2022. PMID: 35536676 Free PMC article.
However, primary resistance to these inhibitors has been observed. To elucidate potential mechanisms, we performed in vivo CRISPR screens in PORCN inhibitor-sensitive RNF43-mutant pancreatic cancer xenografts. ...We found that EP300 is silenced due to genetic …
However, primary resistance to these inhibitors has been observed. To elucidate potential mechanisms, we performed in vivo CRISPR scr …
Association of RNF43 Genetic Alterations With BRAF(V600E) and MSI(high) in Colorectal Cancer.
Vogel A, Murugesan K, Kendre G, Quintanilha JCF, Ross JS, Brummer T, Saborowski A. Vogel A, et al. JCO Precis Oncol. 2024 Feb;8:e2300411. doi: 10.1200/PO.23.00411. JCO Precis Oncol. 2024. PMID: 38394466
PURPOSE: Recent studies have provided evidence for a predictive value of RNF43 genetic alterations (GAs) as biomarkers for targeted therapies in microsatellite-stable (MSS) colorectal cancer (CRC). ...CONCLUSION: Ongoing phase III clinical trials, such as BREAKWATER …
PURPOSE: Recent studies have provided evidence for a predictive value of RNF43 genetic alterations (GAs) as biomarkers for tar …
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Joo JE, Walker R, Como J, Preston S, Chai SM, Chu YL, Meyers AL, Pope BJ, Duggan D, Fink JL, Macrae FA, Rosty C, Winship IM, Jenkins MA, Buchanan DD. Chan JM, et al. Fam Cancer. 2024 Mar;23(1):9-21. doi: 10.1007/s10689-023-00351-2. Epub 2023 Dec 8. Fam Cancer. 2024. PMID: 38063999 Free PMC article.
Seven members carried both variants, four of which developed CRC. A single carrier of the RNF43 variant met the 2019 World Health Organization (WHO(2019)) criteria for SPS, developing a BRAF p.V600 wildtype CRC. Loss of the wildtype allele for both BRCA1 and RNF4 …
Seven members carried both variants, four of which developed CRC. A single carrier of the RNF43 variant met the 2019 World Hea …
Treatment of BRAF-V600E mutant metastatic colorectal cancer: new insights and biomarkers.
Ros J, Rodríguez-Castells M, Saoudi N, Baraibar I, Salva F, Tabernero J, Élez E. Ros J, et al. Expert Rev Anticancer Ther. 2023 Jul-Dec;23(8):797-806. doi: 10.1080/14737140.2023.2236794. Epub 2023 Jul 23. Expert Rev Anticancer Ther. 2023. PMID: 37482749 Review.
INTRODUCTION: The presence of a BRAF-V600E mutation in metastatic colorectal cancer (mCRC) is observed in approximately 12% of cases and is associated with poor prognosis and aggressive disease. ...The RNF43 mutation is an accurate and reliable predictive bio …
INTRODUCTION: The presence of a BRAF-V600E mutation in metastatic colorectal cancer (mCRC) is observed in approximately 12% of cases …
eVIP2: Expression-based variant impact phenotyping to predict the function of gene variants.
Thornton AM, Fang L, Lo A, McSharry M, Haan D, O'Brien C, Berger AH, Giannakis M, Brooks AN. Thornton AM, et al. PLoS Comput Biol. 2021 Jul 2;17(7):e1009132. doi: 10.1371/journal.pcbi.1009132. eCollection 2021 Jul. PLoS Comput Biol. 2021. PMID: 34214079 Free PMC article.
RNF43 WT, RNF43 R117fs, RNF43 G659fs, or GFP control cDNA were overexpressed in HEK293T cells. ...Additional eVIP Pathways analysis of RNF43 G659fs predicted 10 pathways to be significantly altered, including TNF-alpha via NFkappaB signaling, KR …
RNF43 WT, RNF43 R117fs, RNF43 G659fs, or GFP control cDNA were overexpressed in HEK293T cells. ...Additional eVIP Pathw …
Multiomic Characterization Reveals a Distinct Molecular Landscape in Young-Onset Pancreatic Cancer.
Ogobuiro I, Baca Y, Ribeiro JR, Walker P, Wilson GC, Gulhati P, Marshall JL, Shroff RT, Spetzler D, Oberley MJ, Abbott DE, Kim HJ, Kooby DA, Maithel SK, Ahmad SA, Merchant NB, Xiu J, Hosein PJ, Datta J. Ogobuiro I, et al. JCO Precis Oncol. 2023 Sep;7:e2300152. doi: 10.1200/PO.23.00152. JCO Precis Oncol. 2023. PMID: 37944072 Free PMC article.
RESULTS: Patients with YOPC had higher proportions of mismatch repair-deficient/microsatellite instability-high, BRCA2-mutant, and PALB2-mutant tumors compared with patients with AOPC, but fewer SMAD4-, RNF43-, CDKN2A-, and SF3B1-mutant tumors. ...In t …
RESULTS: Patients with YOPC had higher proportions of mismatch repair-deficient/microsatellite instability-high, BRCA2-mutant, and PA …
The Functional Landscape of Patient-Derived RNF43 Mutations Predicts Sensitivity to Wnt Inhibition.
Yu J, Yusoff PAM, Woutersen DTJ, Goh P, Harmston N, Smits R, Epstein DM, Virshup DM, Madan B. Yu J, et al. Cancer Res. 2020 Dec 15;80(24):5619-5632. doi: 10.1158/0008-5472.CAN-20-0957. Epub 2020 Oct 16. Cancer Res. 2020. PMID: 33067269
However, it is not clear which of the clinically identified RNF43 mutations affect its function in vivo. We assayed 119 missense and 45 truncating RNF43 mutations found in human cancers using a combination of cell-based reporter assays, genome editing, flow cytometr …
However, it is not clear which of the clinically identified RNF43 mutations affect its function in vivo. We assayed 119 missense and …
RNF43 mutation is associated with aggressive tumor biology along with BRAF V600E mutation in right-sided colorectal cancer.
Matsumoto A, Shimada Y, Nakano M, Oyanagi H, Tajima Y, Nakano M, Kameyama H, Hirose Y, Ichikawa H, Nagahashi M, Nogami H, Maruyama S, Takii Y, Ling Y, Okuda S, Wakai T. Matsumoto A, et al. Oncol Rep. 2020 Jun;43(6):1853-1862. doi: 10.3892/or.2020.7561. Epub 2020 Mar 23. Oncol Rep. 2020. PMID: 32236609 Free PMC article.
Moreover, RNF43 mutant-type was classified according to primary tumor sidedness, i.e., right-sided RNF43 mutant-type or left-sided RNF43 mutant-type, and the clinicopathological characteristics between the two groups were compared. ...Amo …
Moreover, RNF43 mutant-type was classified according to primary tumor sidedness, i.e., right-sided RNF43 mutant- …
Genome-wide CRISPR screens reveal a Wnt-FZD5 signaling circuit as a druggable vulnerability of RNF43-mutant pancreatic tumors.
Steinhart Z, Pavlovic Z, Chandrashekhar M, Hart T, Wang X, Zhang X, Robitaille M, Brown KR, Jaksani S, Overmeer R, Boj SF, Adams J, Pan J, Clevers H, Sidhu S, Moffat J, Angers S. Steinhart Z, et al. Nat Med. 2017 Jan;23(1):60-68. doi: 10.1038/nm.4219. Epub 2016 Nov 21. Nat Med. 2017. PMID: 27869803
We further derived a panel of recombinant antibodies that reports the expression of nine FZD proteins and confirms that FZD5 functional specificity cannot be explained by protein expression patterns. Additionally, antibodies that specifically bind FZD5 and FZD8 robu …
We further derived a panel of recombinant antibodies that reports the expression of nine FZD proteins and confirms that FZD5 function …
18 results