|
rs1057519852
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913382
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913383
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913384
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913387
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913389
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
In conclusion, whilst oncogenic KRAS mutation might activate Yap in other cell types, we could find no evidence for this in myoblasts because the expression of KRAS G12V expression did not change Yap/Taz activity in myoblasts and there was a limited overlap in gene expression between KRAS G12V and YAP1 S127A-driven tumours.
|
30353028 |
2018 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Disruption of Acvr1b in LSL-KRAS(G12D);Pdx1-Cre mice accelerated the growth of pancreatic IPMNs compared with LSL-KRAS(G12D);Pdx1-Cre mice, but did not alter growth of pancreatic intraepithelial neoplasias.
|
26408346 |
2016 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Coactivation of BRAF(V600E) and KRAS(G12D) markedly reduced lung tumor numbers and overall tumo</span>r burden compared with activation of BRAF(V600E) alone.
|
26028035 |
2016 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The K-Ras(V14I) mutation is a mild activating K-Ras protein; thus, we have used this model to study tumour susceptibility in comparison with mice expressing the classical K-Ras(G12V) oncogene.
|
27174785 |
2016 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Orthotopic implantation of PDCs carrying the activated Kras(G12D</span>)-allele and shRNA against p16(Ink4a) or Trp53 resulted in tumor growth, metastasis, and reduced survival of NSG mice.
|
25724428 |
2015 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We found that the deletion of Ink4a/Arf in K-Ras(G12D) expressing mice led to high expression of PDGF-D signaling pathway in the tumor and tumor-derived cell line (RInk-1 cells).
|
22806240 |
2013 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Both tumors develop in mice upon conditional deletion in melanocytes of Ink4a/Arf tumor suppressor genes with concomitant expression of oncogene H-Ras(G12V) and a known tumor antigen.
|
23173060 |
2012 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Kras(G12D) and Smad4/Dpc4 haploinsufficiency cooperate to induce mucinous cystic neoplasms and invasive adenocarcinoma of the pancreas.
|
17349581 |
2007 |
|
rs1444669684
|
|
|
0.090 |
GeneticVariation |
BEFREE |
However, we identified a p14ARF exon 1beta missense germline mutation (G16D) in a melanoma-neural system tumour syndrome (CMM+NST) family and a 8474 bp germline deletion from 196 bp upstream of p14ARF exon 1beta initiation codon to 11233 bp upstream of exon 1alpha of p16(INK4A) in a family with five melanoma cases.
|
15937071 |
2006 |
|
rs3731249
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report an undescribed p.(Ala148Thr) CDKN2A mutation in meningioma that was only present in relapsing tumors.
|
31729637 |
2019 |
|
rs3088440
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We observed that cyclin-dependent kinase inhibitor gene CDKN2A rs3088440 was significantly related with a poorer treatment efficacy on the primary tumor and cervical lymph node after radiotherapy, and also with a decreased risk of grade 3-4 acute radiation-induced myelosuppression.
|
28445979 |
2017 |
|
rs3088440
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We determined tumor HPV16 status and expression of p14/p53 and genotyped p14 (ARF) -rs3731217 and -rs3088440 polymorphisms in 552 incident SCCOP patients.
|
24104554 |
2014 |
|
rs3088440
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We investigated the potential association of two CDKN2A polymorphisms, 500C > G (rs11515) and 540C > T (rs3088440), with cervical neoplasia in patients with cervical lesions and healthy controls (n = 492).
|
24491138 |
2014 |
|
rs3731249
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In univariable analysis, tumor stage (log rank P = 0.006) and grade (P < 0.001), HPV DNA (P < 0.004), Chromosome 9 loss (P = 0.04) and the A148T polymorphism (rs 3731249) in CDKN2A (P = 0.02) were associated with progression.
|
25142434 |
2014 |
|
rs3731249
|
|
|
0.030 |
GeneticVariation |
BEFREE |
By direct sequencing of polymerase chain reaction (PCR)-amplified microdissected genomic DNA; no somatic or germline p16INK4a point mutations or small deletions were detected in the remaining 34 tumour samples; one individual exhibited the previously described germline codon 148 (Ala-->Thr) polymorphism.
|
9536218 |
1998 |
|
rs1057519883
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Symbolic non-synonymous single nucleotide variants (SNVs) of both the <i>TP53</i> gene (P33R) in each single aneuploid CTCs, and the cyclin-dependent kinase inhibitor 2A (<i>CDKN2A</i>) tumor suppressor gene in each examined aneuploid CECs, were identified for the first time across patients with diverse carcinomas.
|
29670052 |
2018 |
|
rs6413464
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, whilst oncogenic KRAS mutation might activate Yap in other cell types, we could find no evidence for this in myoblasts because the expression of KRAS G12V expression did not change Yap/Taz activity in myoblasts and there was a limited overlap in gene expression between KRAS G12V and YAP1 S127A-driven tumours.
|
30353028 |
2018 |
|
rs200429615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome analysis of genomic DNA from both the tumor and blood indicated no somatic, non-synonymous coding mutations within the tumor, but a heterozygous, unique germline, loss of function mutation in CDKN2A (p16(INK4A), D74A).
|
27519597 |
2016 |