Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Overall, our work establishes the dual role of SUFU in SHH MB and provides mechanistic insights into transcriptional regulation underlying Gli2-mediated SHH MB tumorigenesis.
|
30554998 |
2019 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
(2018) describe genetic models of Sonic Hedgehog (SHH) subgroup of medulloblastoma with SUFU alterations, painting more nuanced roles for SUFU in tumorigenesis and maintenance of Gli2 transcription factor circuitries.
|
30695694 |
2019 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Twenty-two patients from 17 families were identified with medulloblastoma and a germline SUFU mutation (median age at diagnosis: 16.5 mo).
|
29186568 |
2018 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (<i>PTCH1)</i> and Suppressor of fused (<i>SUFU)</i><i>SUFU</i> mutation carriers appear to have an especially high risk of early-onset medulloblastoma.
|
28620006 |
2017 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We suggest that the emerging phenotype in SUFU associated with familial medulloblastoma may include hamartomatous skin lesions.
|
25287320 |
2015 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma.
|
25403219 |
2014 |
Medulloblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma.
|
25403219 |
2014 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma.
|
25403219 |
2014 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma.
|
25403219 |
2014 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma.
|
25403219 |
2014 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Together with the previous report describing three cases of non-NBCCS medulloblastoma carrying a germline mutation in this gene, individuals with a SUFU germline mutation are expected to have a markedly high risk of developing medulloblastoma and probably meningioma.
|
22829011 |
2012 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Loss of Trp53 promotes medulloblastoma development but not skin tumorigenesis in Sufu heterozygous mutant mice.
|
21882258 |
2012 |
Medulloblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.
|
22508808 |
2012 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A complete mutational analysis of the SUFU gene was performed on genomic DNA in all 131 consecutive patients treated for medulloblastoma in the pediatrics department of the Institut Gustave Roussy between 1972 and 2009 and for whom a blood sample was available.
|
22508808 |
2012 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.
|
22508808 |
2012 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Loss of SUFU function in familial multiple meningioma.
|
22958902 |
2012 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified no PTCH1 mutations and two SUFU mutations that cause premature protein truncating in the series of sporadic non-familial medulloblastomas.
|
21188540 |
2011 |
Medulloblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.
|
21188540 |
2011 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.
|
19833601 |
2010 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.
|
19833601 |
2010 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
CLINGEN |
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 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Another component in this pathway, SUFU, is known to be involved in susceptibility to medulloblastoma but has never been reported in GS patients to date.
|
19533801 |
2009 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
CLINGEN |
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
|
18285427 |
2008 |
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Loss of suppressor-of-fused function promotes tumorigenesis.
|
17452975 |
2007 |