|
rs1042522
|
|
|
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
|
|
|
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 |
|
rs878854066
|
|
|
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 |
|
rs143277125
|
|
|
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 |
|
rs63750451
|
|
|
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 |
|
rs121918457
|
|
|
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 |
|
rs4977756
|
|
|
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 |
|
rs1063192
|
|
|
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 |
|
rs755103500
|
|
|
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 |
|
rs766905791
|
|
|
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 |
|
rs17710891
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Vismodegib.
|
22679179 |
2012 |
|
rs80358638
|
|
|
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 |
|
rs121913400
|
|
|
0.810 |
GeneticVariation |
BEFREE |
These mutations caused amino acid substitutions in 3 of 80 medulloblastomas (Ser33Phe, Ser33Cys and Ser37Cys) and 1 of 4 supratentorial PNETs (Gly34Val).
|
11433413 |
2001 |
|
rs78380192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These mutations caused amino acid substitutions in 3 of 80 medulloblastomas (Ser33Phe, Ser33Cys and Ser37Cys) and 1 of 4 supratentorial PNETs (Gly34Val).
|
11433413 |
2001 |
|
rs1801516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphism D1853N was reported in healthy individuals and medulloblastomas.
|
18465141 |
2008 |
|
rs1057517558
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Pro1319Leu substitution.
|
11433413 |
2001 |
|
rs1801166
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Pro1319Leu substitution.
|
11433413 |
2001 |
|
rs113488022
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs17710891
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.
|
19726788 |
2009 |
|
rs121913400
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs28931588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs61754966
|
|
|
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 |
|
rs765602971
|
|
|
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 |
|
rs3734254
|
|
|
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 |