|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Several transcription factors and signaling pathways involved in the regulation of MITF expression and/or activity such as the Wnt/β-catenin pathway are broadly utilized by various types of tumors, whereas others, e.g., BRAF(V600E)/ERK1/2 are more specific for melanoma.
|
25433395 |
2015 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
beta-catenin mutations have been found not only in melanoma and prostatic carcinoma but also in hepatocellular carcinomas in human, c-myc, H-ras genes transgenic mice and chemically-induced models.
|
10811985 |
2000 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, Wnt/β-catenin signaling and AXIN1 may regulate the efficacy of inhibitors of BRAF(V600E), suggesting that manipulation of the Wnt/β-catenin pathway could be combined with BRAF inhibitors to treat melanoma.
|
22234612 |
2012 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings demonstrate that beta-catenin mutations are rare in primary melanoma, in contrast to the situation in melanoma cell lines.
|
10027390 |
1999 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fifty percent of the hepatic tumors in these transgenic mice had activating somatic mutations within the beta-catenin gene similar to those found in colon cancers and melanomas.
|
9671767 |
1998 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We systematically examined melanoma cell lines for activating CTNNB1 mutations as well as genetic and epigenetic alterations of the adenomatous polyposis coli gene (APC), another key component of the Wnt signalling transduction pathway.
|
15133491 |
2004 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Directing this test to a single disease, 90 of 150 (60%) melanomas from sites throughout the body harbored a mutation tested, including 57, 23, 6, 3, and 2 mutations in BRAF, NRAS, GNAQ, KIT, and CTNNB1, respectively.
|
22536370 |
2012 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
β-catenin is a main driver in melanocyte development; although infrequently mutated in melanoma, its cellular localization and activity are frequently altered.
|
28191677 |
2017 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, oncogenic beta-catenin mutations were described in human colorectal cancer and melanoma cell lines.
|
9591632 |
1998 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
One out of 62 (1.6%) cell lines was found to carry a mutation, indicating that aberration of the Wnt-1/wingless pathway through activation of beta-catenin is a rare event, even in melanoma cell lines.
|
11930117 |
2002 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Thus, we describe additional melanomas with mutations in CTNNB1 and APC, identify for the first time a germline AXIN2 mutation in a melanoma patient and suggest that inactivation of the MMR system and deregulation of the Wnt/beta-catenin signaling pathway cooperate to promote melanoma development and/or progression.
|
18384130 |
2008 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A proportion of APC wild-type colon carcinomas and melanomas also contains constitutive nuclear Tcf-4/beta-catenin complexes as a result of dominant mutations in the N terminus of beta-catenin that render it insensitive to downregulation by APC, GSK3 beta, and Axin/Conductin.
|
10549354 |
2000 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the beta-catenin gene (CTNNB1) have recently been implicated in the initiation of some colon carcinomas and melanomas.
|
9537226 |
1998 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of CTNNB1 identified somatic mutations in 1 primary melanoma and 1 melanoma metastasis from 2 different patients (5%).
|
12124804 |
2002 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SF3B1 mutations occur more commonly in female genital and anorectal melanomas and CTNNB1 mutations implicate a role for WNT signaling defects in the genesis of some mucosal melanomas.
|
31320640 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Integrative analysis of epigenetic modulation in melanoma cell response to decitabine: clinical implications.
|
19234609 |
2009 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Significantly, in a novel mouse model for melanoma, stabilized beta-catenin bypasses the requirement for p16(Ink4a) mutations and, together with an activated N-Ras oncogene, leads to melanoma with high penetrance and short latency.
|
18006687 |
2007 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
LHGDN |
Mutational analysis of CTNNB1 identified somatic mutations in 1 primary melanoma and 1 melanoma metastasis from 2 different patients (5%).
|
12124804 |
2002 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
A significant fraction of primary human melanomas exhibit deregulation (via aberrant nuclear accumulation) of beta-catenin, leading us to examine its role in melanoma growth and survival.
|
12235125 |
2002 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results indicate that Wnt/β-catenin pathways in human melanoma may be involved in immunosuppression and immunoresistance in both induction and effector phases of antitumor immunoresponses partly through IL-10 production, and they may be attractive targets for restoring immunocompetence in patients with Wnt/β-catenin-activated melanoma.
|
22815287 |
2012 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
To determine whether this difference in mutation frequency reflected an in vitro culturing artefact, exon 3 of CTNNB1 was screened in a panel of 62 melanoma cell lines.
|
11930117 |
2002 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
In summary, we conclude that loss of E-cadherin and cytoplasmatic beta-catenin induces p38-mediated NFkappaB activation, potentially revealing an important mechanism of tumorigenesis in malignant melanomas.
|
15378016 |
2004 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Previous studies have revealed that β‑catenin is associated with TRAIL resistance in melanoma and colorectal tumors.
|
30132512 |
2018 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry revealed a significant loss of membranous beta-catenin staining between the primary and metastatic melanomas as well as between radial and vertical growth phase.
|
11950921 |
2002 |