|
rs879255280
|
|
|
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 |
|
rs13306747
|
|
|
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 |
|
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 |
|
rs540045689
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report highly recurrent hotspot mutations (r.3A>G) of U1 spliceosomal small nuclear RNAs (snRNAs) in about 50% of Sonic hedgehog (SHH) medulloblastomas.
|
31664194 |
2019 |
|
rs6008197
|
|
|
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 |
|
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 |
|
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 |
|
rs2157719
|
|
|
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 |
|
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 |
|
rs1400239417
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma.
|
27179218 |
2016 |
|
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 |
|
rs1051740
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the maternal EPHX1 rs1051740 genotype (RR = 3.26, P = .01) was associated with medulloblastoma risk.
|
22994552 |
2012 |
|
rs922324159
|
|
|
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 |
|
rs144848
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1801516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphism D1853N was reported in healthy individuals and medulloblastomas.
|
18465141 |
2008 |
|
rs139209450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 2 further MB biopsies, mutations were identified in exon 5 (Glu408Lys) and exon 8 (Ser738Phe) of the AXIN2 gene, which are due to predicted germline mutations and rare polymorphisms. mRNA expression analysis in 22 MBs revealed reduced expression of AXIN2 mRNA compared to 8 fetal cerebellar tissues.
|
17373666 |
2007 |
|
rs387906238
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 2 further MB biopsies, mutations were identified in exon 5 (Glu408Lys) and exon 8 (Ser738Phe) of the AXIN2 gene, which are due to predicted germline mutations and rare polymorphisms. mRNA expression analysis in 22 MBs revealed reduced expression of AXIN2 mRNA compared to 8 fetal cerebellar tissues.
|
17373666 |
2007 |
|
rs749846538
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 2 further MB biopsies, mutations were identified in exon 5 (Glu408Lys) and exon 8 (Ser738Phe) of the AXIN2 gene, which are due to predicted germline mutations and rare polymorphisms. mRNA expression analysis in 22 MBs revealed reduced expression of AXIN2 mRNA compared to 8 fetal cerebellar tissues.
|
17373666 |
2007 |
|
rs1333957805
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a series of 90 MBs and 8 MB cell lines, we found one germline and one somatic mutation resulting in amino acid substitutions in the first (Ile53Leu) and second (Asp97Asn) transmembrane regions, respectively.
|
15880586 |
2005 |