|
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 |
|
rs11515
|
|
|
0.010 |
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 |
|
rs3731217
|
|
|
0.010 |
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 |
|
rs1289280947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The objective of our investigation was to evaluate associations between the MSH6 G39E (116G>A) polymorphism and CpG island methylator phenotype (CIMP) and BRAF V600E mutations in tumors from a sample of 1048 individuals with colon cancer and 1964 controls from Utah, Northern California, and Minnesota.
|
19582761 |
2009 |
|
rs774904310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The objective of our investigation was to evaluate associations between the MSH6 G39E (116G>A) polymorphism and CpG island methylator phenotype (CIMP) and BRAF V600E mutations in tumors from a sample of 1048 individuals with colon cancer and 1964 controls from Utah, Northern California, and Minnesota.
|
19582761 |
2009 |
|
rs104894094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G101W founder mutation was detected in 4% of SPC cases but the rate increased to 13% when tumor clustering in either branch of families was taken into account.
|
14679123 |
2004 |
|
rs1377159790
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One tumour with a single base deletion in the N-terminus (codon 8) of the CDKN2A/p16(INK4a) gene carried a novel germ-line mutation or a rare polymorphism (Ile51Met) in exon 2 of the CDK4 gene.
|
11960918 |
2002 |
|
rs771138120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The observation that a wide variety of tumors develop in mice harboring the Cdk4(R24C</span>) mutation offers a genetic proof that Cdk4 activation may constitute a central event in the genesis of many types of cancers in addition to melanoma.
|
11756559 |
2002 |
|
rs1277299943
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were 3 G --> A point mutations in the tumour tissue.
|
11286481 |
2001 |
|
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 |
|
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 |