|
rs3731249
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
There was no association between Ala148Thr status and nevus number or history of melanoma, and therefore the results did not support the hypothesis that the Ala148Thr variant is a low penetrance melanoma or nevus susceptibility allele.
|
12406345 |
2002 |
|
rs3731249
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The proportion of cases with polymorphisms in this Latvian me</span>lanoma population was Ala148Thr (c.442G>A) (6%), 500 C/G (c.*29C>G) (18%), and 540 C/T (c.*69C>T) (20%); however, only the frequency of the Ala148Thr polymorphism was higher in melanoma patients than in 203 controls (6 versus 1%, P=0.03).
|
17505264 |
2007 |
|
rs3731249
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland.
|
15879498 |
2005 |
|
rs3731249
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our data suggest that CDKN2A p.A148T</span> is a m</span>elanoma susceptibility allele in Southern Brazil and is particularly common in patients with melanoma of predominantly European ancestry.
|
21895773 |
2011 |
|
rs3731249
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
In conclusion, the A148T variant of the CDKN2A gene seems to be associated with an increased risk of development of MM.
|
15705881 |
2005 |
|
rs3731249
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The obtained results allow us to conclude: (i) survival times of 500 C/G carriers vs. cumulating proportion surviving was not statistically significant; (ii) CDKN2a polymorphism 500 C/G correlated with Ala148Thr; (iii) no correlation was observed between the 500 C/G polymorphism and age of diagnosis, localization of primary melanoma and survival time; (iv) we did not find correlation between 500 C/G and type of cancer in the family; (v) changes in the CDKN2a gene were not found in patients with second cancer.
|
17351674 |
2007 |
|
rs104894095
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The previously described Met53Ile CDKN2A mutation located in exon 2 was detected in a female patient with melanoma metastatic to the regional lymph nodes, multiple primary cutaneous lesions, atypical naevi and a first-degree relative with melanoma.
|
12459645 |
2002 |
|
rs104894095
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.
|
17171691 |
2007 |
|
rs104894095
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
In binding assays the protein expressed from the previously described mutation, Met53Ile, did not bind to CDK4/CDK6, confirming its role as a causal mutation in the development of melanoma.
|
9328469 |
1997 |
|
rs104894095
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Among a group of 49 patients, we detected 1 (2%; 95% confidence interval, 0.07%-10.8%) Met 53 Ile CDKN2A mutation, which was found in a patient with a strong family history of melanoma.
|
10987867 |
2000 |
|
rs104894095
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
One multiple primary melanoma patient also has the Met 53 Ile mutation and a second has a G-T substitution at the IVS2 + 1 splice donor site.
|
9699728 |
1998 |
|
rs104894095
|
|
melanoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4.
|
11595726 |
2001 |
|
rs3731217
|
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
These SNPs are located at CDKN2A (rs3731217) and IKZF1 (rs4132601), genes frequently lost in ALL, and at CEBPE (rs2239633), ARID5B (rs7089424), PIP4K2A (rs10764338), and GATA3 (rs3824662), genes located on chromosomes gained in high-hyperdiploid ALL.
|
26575185 |
2015 |
|
rs3731217
|
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
To explore the impact of these variants on ALL risk in the Thai population, we genotyped 190 cases of ALL and 182 controls for SNPs rs4132601 (7p12.2), rs3731217 (9p21.3), rs7089424 and rs10821938 (10q21.2), and rs2239633 (14q11.2).
|
20919861 |
2010 |
|
rs3731217
|
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children.
|
28768142 |
2017 |
|
rs3731217
|
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Using data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation in samples totaling 2,386 cases and 2,419 controls, we have shown that common variation at 9p21.3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 x 10(-11)), irrespective of cell lineage.
|
20453839 |
2010 |
|
rs3731217
|
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Here, we conducted a systematic review and meta-analysis to re-evaluate the association of both SNPs (rs3731217 and rs3731249) with ALL susceptibility by gathering the data from 24 independent studies, totally containing 7922 cases/21503 controls for rs3731217 and 6295 cases/24191 controls for rs3731249.
|
29654170 |
2018 |
|
rs104894098
|
|
melanoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas.
|
26225579 |
2015 |
|
rs104894098
|
|
melanoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma.
|
23371019 |
2013 |
|
rs104894098
|
|
melanoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
|
rs104894098
|
|
melanoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4.
|
11595726 |
2001 |
|
rs104894098
|
|
melanoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Phenotypic characteristics of members of a melanoma prone kindred with a V126D CDKN2A gene mutation were monitored over approximately 15 y. Thirty-eight previously studied subjects were recruited.
|
15304099 |
2004 |
|
rs786204195
|
|
melanoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our data suggest that the P48T mutation of p16 is a strong melanoma-predisposing factor, but the fact that the heterozygous mutant parents have not yet exhibited melanoma or atypical moles indicates that the penetrance of this allele might depend on modifying factors.
|
17625456 |
2007 |
|
rs786204195
|
|
melanoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, the germline P48T mutation was found in the CDKN2A gene exon 1, which is known to be associated with melanoma and pancreatic cancer.
|
18299477 |
2008 |
|
rs786204195
|
|
melanoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma.
|
16470311 |
2006 |