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RNF43 Protein Variant

MedGen UID:
1648105
•Concept ID:
C4687615
•
Cell or Molecular Dysfunction
Synonyms: E3 Ubiquitin-Protein Ligase RNF43 Protein Variant; RING Finger Protein 124 Protein Variant; Ring Finger Protein 43 Protein Variant; RING-Type E3 Ubiquitin Transferase RNF43 Protein Variant

Definition

A variation in the amino acid sequence for E3 ubiquitin-protein ligase RNF43. [from NCI]

Professional guidelines

PubMed

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
Expert Rev Anticancer Ther 2023 Jul-Dec;23(8):797-806. Epub 2023 Jul 23 doi: 10.1080/14737140.2023.2236794. PMID: 37482749

Recent clinical studies

Etiology

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
JCO Precis Oncol 2024 Feb;8:e2300411. doi: 10.1200/PO.23.00411. PMID: 38394466
BRAF V600E and RNF43 Co-mutations Predict Patient Outcomes With Targeted Therapies in Real-World Cases of Colorectal Cancer.
Quintanilha JCF, Graf RP, Oxnard GR
Oncologist 2023 Mar 17;28(3):e171-e174. doi: 10.1093/oncolo/oyac265. PMID: 36779536Free PMC Article
Wild-type APC Is Associated with Poor Survival in Metastatic Microsatellite Stable Colorectal Cancer.
Wang C, Ouyang C, Cho M, Ji J, Sandhu J, Goel A, Kahn M, Fakih M
Oncologist 2021 Mar;26(3):208-214. Epub 2020 Dec 7 doi: 10.1002/onco.13607. PMID: 33230914Free PMC Article
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
Oncol Rep 2020 Jun;43(6):1853-1862. Epub 2020 Mar 23 doi: 10.3892/or.2020.7561. PMID: 32236609Free PMC Article
RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers.
Fennell LJ, Clendenning M, McKeone DM, Jamieson SH, Balachandran S, Borowsky J, Liu J, Kawamata F, Bond CE, Rosty C, Burge ME, Buchanan DD, Leggett BA, Whitehall VLJ
Fam Cancer 2018 Jan;17(1):63-69. doi: 10.1007/s10689-017-0003-0. PMID: 28573495Free PMC Article

Diagnosis

A p300/GATA6 axis determines differentiation and Wnt dependency in pancreatic cancer models.
Zhong Z, Harmston N, Wood KC, Madan B, Virshup DM
J Clin Invest 2022 Jun 15;132(12) doi: 10.1172/JCI156305. PMID: 35536676Free PMC Article
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
Clin Genet 2022 Jan;101(1):122-126. Epub 2021 Sep 27 doi: 10.1111/cge.14064. PMID: 34541672
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
Cancer Res 2020 Dec 15;80(24):5619-5632. Epub 2020 Oct 16 doi: 10.1158/0008-5472.CAN-20-0957. PMID: 33067269
Protease associated domain of RNF43 is not necessary for the suppression of Wnt/β-catenin signaling in human cells.
Radaszkiewicz T, Bryja V
Cell Commun Signal 2020 Jun 11;18(1):91. doi: 10.1186/s12964-020-00559-0. PMID: 32527265Free PMC Article
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
Nat Med 2017 Jan;23(1):60-68. Epub 2016 Nov 21 doi: 10.1038/nm.4219. PMID: 27869803

Therapy

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
Expert Rev Anticancer Ther 2023 Jul-Dec;23(8):797-806. Epub 2023 Jul 23 doi: 10.1080/14737140.2023.2236794. PMID: 37482749
Genomic landscape and its prognostic significance in stage III colorectal cancer: JCOG1506A1, an ancillary of JCOG0910.
Shida D, Kuchiba A, Shibata T, Hamaguchi T, Yamasaki S, Ito M, Kobatake T, Tonooka T, Masaki T, Shiozawa M, Takii Y, Uetake H, Okamura S, Ojima H, Kazama S, Takeyama H, Kanato K, Shimada Y, Murakami Y, Kanemitsu Y
Cancer Sci 2023 Aug;114(8):3352-3363. Epub 2023 May 15 doi: 10.1111/cas.15834. PMID: 37189003Free PMC Article
BRAF V600E and RNF43 Co-mutations Predict Patient Outcomes With Targeted Therapies in Real-World Cases of Colorectal Cancer.
Quintanilha JCF, Graf RP, Oxnard GR
Oncologist 2023 Mar 17;28(3):e171-e174. doi: 10.1093/oncolo/oyac265. PMID: 36779536Free PMC Article
Monitoring tumour resistance to the BRAF inhibitor combination regimen in colorectal cancer patients via circulating tumour DNA.
Ye LF, Huang ZY, Chen XX, Chen ZG, Wu SX, Ren C, Hu MT, Bao H, Jin Y, Wang F, Wang FH, Du ZM, Wu X, Ju HQ, Shao Y, Li YH, Xu RH, Wang DS
Drug Resist Updat 2022 Dec;65:100883. Epub 2022 Sep 29 doi: 10.1016/j.drup.2022.100883. PMID: 36202008
Inactivating mutations of RNF43 confer Wnt dependency in pancreatic ductal adenocarcinoma.
Jiang X, Hao HX, Growney JD, Woolfenden S, Bottiglio C, Ng N, Lu B, Hsieh MH, Bagdasarian L, Meyer R, Smith TR, Avello M, Charlat O, Xie Y, Porter JA, Pan S, Liu J, McLaughlin ME, Cong F
Proc Natl Acad Sci U S A 2013 Jul 30;110(31):12649-54. Epub 2013 Jul 11 doi: 10.1073/pnas.1307218110. PMID: 23847203Free PMC Article

Prognosis

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
JCO Precis Oncol 2023 Sep;7:e2300152. doi: 10.1200/PO.23.00152. PMID: 37944072Free PMC Article
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
Expert Rev Anticancer Ther 2023 Jul-Dec;23(8):797-806. Epub 2023 Jul 23 doi: 10.1080/14737140.2023.2236794. PMID: 37482749
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
Clin Genet 2022 Jan;101(1):122-126. Epub 2021 Sep 27 doi: 10.1111/cge.14064. PMID: 34541672
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
PLoS Comput Biol 2021 Jul;17(7):e1009132. Epub 2021 Jul 2 doi: 10.1371/journal.pcbi.1009132. PMID: 34214079Free PMC Article
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
Cancer Res 2020 Dec 15;80(24):5619-5632. Epub 2020 Oct 16 doi: 10.1158/0008-5472.CAN-20-0957. PMID: 33067269

Clinical prediction guides

A p300/GATA6 axis determines differentiation and Wnt dependency in pancreatic cancer models.
Zhong Z, Harmston N, Wood KC, Madan B, Virshup DM
J Clin Invest 2022 Jun 15;132(12) doi: 10.1172/JCI156305. PMID: 35536676Free PMC Article
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
Clin Genet 2022 Jan;101(1):122-126. Epub 2021 Sep 27 doi: 10.1111/cge.14064. PMID: 34541672
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
PLoS Comput Biol 2021 Jul;17(7):e1009132. Epub 2021 Jul 2 doi: 10.1371/journal.pcbi.1009132. PMID: 34214079Free PMC Article
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
Oncol Rep 2020 Jun;43(6):1853-1862. Epub 2020 Mar 23 doi: 10.3892/or.2020.7561. PMID: 32236609Free PMC Article
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
Nat Med 2017 Jan;23(1):60-68. Epub 2016 Nov 21 doi: 10.1038/nm.4219. PMID: 27869803

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