rs878854066
|
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma.
|
12684657 |
2003 |
rs878854066
|
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
With regard to prognosis, disease-free survival was not significantly different among the TP53 Arg72Pro SNP</span> genotypes (P > 0.05), but the less frequent genotype (Pro/Pro) was associated with shorter overall survival of medulloblastoma patients (P = 0.021).
|
22886512 |
2012 |
rs61754966
|
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results indicate that heterozygous carriers of the germ-line NBN gene mutations (c.511A>G and c.657_661del5) may exhibit increased susceptibility to developing MB.
|
19908051 |
2010 |
rs61754966
|
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Among children with solid tumors only in 1 child with medulloblastoma I171V variant has been found.
|
21436738 |
2011 |
rs1131691014
|
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
With regard to prognosis, disease-free survival was not significantly different among the TP53 Arg72Pro SNP</span> genotypes (P > 0.05), but the less frequent genotype (Pro/Pro) was associated with shorter overall survival of medulloblastoma patients (P = 0.021).
|
22886512 |
2012 |
rs1131691014
|
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma.
|
12684657 |
2003 |
rs1042522
|
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
With regard to prognosis, disease-free survival was not significantly different among the TP53 Arg72Pro SNP</span> genotypes (P > 0.05), but the less frequent genotype (Pro/Pro) was associated with shorter overall survival of medulloblastoma patients (P = 0.021).
|
22886512 |
2012 |
rs1042522
|
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma.
|
12684657 |
2003 |
rs922324159
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma.
|
22624711 |
2012 |
rs879255280
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO.
|
31825089 |
2020 |
rs80358638
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X.
|
14559878 |
2003 |
rs766905791
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma.
|
19533801 |
2009 |
rs765602971
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results indicate that heterozygous carriers of the germ-line NBN gene mutations (c.511A>G and c.657_661del5) may exhibit increased susceptibility to developing MB.
|
19908051 |
2010 |
rs755103500
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma.
|
19533801 |
2009 |
rs63750451
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene.
|
19283792 |
2009 |
rs6008197
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of the eight SNPs identified, PPARα (rs6008197), PPARγ (rs13306747), and PPARδ (rs3734254) were most significantly associated with long-term changes in general intellectual functioning in medulloblastoma survivors.
|
30607709 |
2019 |
rs4977756
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We hypothesized that CCDKN2A/B rs1063192 and rs4977756 and also the long noncoding RNA (lncRNA) CDKN2BAS rs2157719 glioma susceptibility polymorphisms identified by genome-wide association studies may contribute to medulloblastoma predisposition.
|
29314442 |
2018 |
rs3734254
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of the eight SNPs identified, PPARα (rs6008197), PPARγ (rs13306747), and PPARδ (rs3734254) were most significantly associated with long-term changes in general intellectual functioning in medulloblastoma survivors.
|
30607709 |
2019 |
rs2157719
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Moreover, the association between the CDKN2BAS r</span>s2157719 polymorphism and medulloblastoma risk is more pronounced in males (OR = 2.22, 95% CI = 1.36-3.62; p = 0.001).
|
29314442 |
2018 |
rs144848
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
An Asn372His homozygous variation was noted in the BRCA2 gene in the patient with medulloblastoma whereas the variation was heterozygous in the healthy father.
|
22044372 |
2011 |
rs143277125
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene.
|
19283792 |
2009 |
rs1400239417
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma.
|
27179218 |
2016 |
rs13306747
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of the eight SNPs identified, PPARα (rs6008197), PPARγ (rs13306747), and PPARδ (rs3734254) were most significantly associated with long-term changes in general intellectual functioning in medulloblastoma survivors.
|
30607709 |
2019 |
rs121918457
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years.
|
23813970 |
2013 |
rs121913377
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The ability of the polio: rhinovirus recombinant, PVSRIPO, to infect PXA (645 [BRAF V600E mutation], 2363) and medulloblastoma (D283, D341) cells were determined by viral propagation measurement and cell proliferation.
|
29878245 |
2018 |