|
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 |
|
rs1277299943
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were 3 G --> A point mutations in the tumour tissue.
|
11286481 |
2001 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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 |
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 |