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BIOMARKER:

SUFU mutation

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Other names: SUFU,SUFU Negative Regulator Of Hedgehog Signaling, SUFUH, Suppressor Of Fused Homolog, PRO1280, SUFUXL, Suppressor Of Fused Homolog (Drosophila), Negative Regulator Of Hedgehog Signaling, JBTS32, SUFU
Entrez ID:
Related biomarkers:
7ms
Journal
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SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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SUFU mutation
11ms
Basal cell nevus syndrome: the interface between dentistry and dermatology (PubMed, Ned Tijdschr Tandheelkd)
Radiation exposure by, for example, computed tomography, should be minimized as it induces new BCCs. Regular follow-up by a dermatologist for early diagnosis and treatment of (multiple) BCC's is recommended for life.
Journal
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PTCH1 (Patched 1) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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PTCH1 mutation • SUFU mutation
11ms
SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma. (PubMed, Australas J Dermatol)
We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.
Journal
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PTCH1 (Patched 1) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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PTCH1 mutation • SUFU mutation
over1year
A Case of Nevoid Basal Cell Carcinoma Syndrome: Molecular Pathogenesis and Importance of Genetic Screening (AAP-NCE 2022)
In patients with NBCCS secondary to SUFU mutation, a precarious molecular environment is created that genetically predisposes for early medulloblastoma formation. Early genetic diagnosis and appropriate cancer screening were critical to this patient's favorable outcome.
Clinical
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PTCH1 (Patched 1) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling) • SHH (Sonic Hedgehog Signaling Molecule)
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PTCH1 mutation • SUFU mutation
over1year
Concordance for CDKN2A/B loss and TERT mutation in WHO 2021 classification grade 3 meningiomas: a retrospective study (SNO 2022)
In our limited cohort, we observed concordance with the new WHO 2021 criteria for Grade 3 meningiomas
Retrospective data
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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DNMT3A mutation • CDKN2A mutation • TERT mutation • SUFU mutation
over1year
Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome. (PubMed, J Clin Pathol)
SUFU was probably not involved in the development of a thyroid carcinoma in a patient with a germline SUFU mutation. Hence, we have proven that meningioma and leiomyoma of the testis are rare extracutaneous tumours that are part of BCNS.
Journal
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PTCH1 (Patched 1) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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PTCH1 mutation • SUFU mutation
almost2years
The developmental stage of the medulloblastoma cell-of-origin restricts Hedgehog pathway usage and drug sensitivity. (PubMed, J Cell Sci)
This coincided with reduced responsiveness to upstream Shh pathway component Smoothened, while sensitivity to downstream components Sufu and Gli was retained. Together, these findings can explain the preference for SUFU mutations in infant medulloblastoma and suggest that drugs targeting the downstream SHH pathway will be most appropriate for infant patients.
Journal
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SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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SUFU mutation
almost2years
Prognostic impact of genetic alterations and methylation classes in meningioma. (PubMed, Brain Pathol)
In multivariate analysis correcting for age, gender, MC, and WHO grade, none of the individual mutations except TERT remained an independent significant prognostic factor for PFS. Molecular profiling including mutational analysis and DNA methylation classification may facilitate more precise prognostic assessment and identification of potential targets for personalized therapy in meningioma patients.
Review • Journal
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TERT (Telomerase Reverse Transcriptase) • KLF4 (Kruppel-like factor 4) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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PIK3CA mutation • NF2 mutation • AKT1 mutation • TERT mutation • SUFU mutation
over2years
Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort. (PubMed, Front Oncol)
Additional neoplasms, especially basal cell carcinomas, need to be expected and screened for. Genetic counselling should be provided for families with young medulloblastoma patients with SHH activation.
Clinical • Journal
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PTCH1 (Patched 1) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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PTCH1 mutation • SUFU mutation
almost3years
Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma. (PubMed, Cancer Genomics Proteomics)
Our results help towards finding new treatable molecular targets for these types of medulloblastomas.
Journal
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PTCH1 (Patched 1) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling) • MIR7 (MicroRNA 7)
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PTCH1 mutation • SUFU mutation • miR-7 expression
over3years
Clinical and mutational profiles of adult medulloblastoma groups. (PubMed, Acta Neuropathol Commun)
Multivariate analysis identified histological type (p = 0.026), metastasis (p = 0.031) and KMT2C mutational status (p = 0.046) as independent prognosticators in our cohort. In summary, we identified distinct clinical and mutational characteristics of adult medulloblastomas that will inform their risk stratification and treatment.
Clinical • Journal
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • TERT (Telomerase Reverse Transcriptase) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • KMT2D (Lysine Methyltransferase 2D) • PTCH1 (Patched 1) • KMT2C (Lysine Methyltransferase 2C) • SMO (Smoothened Frizzled Class Receptor) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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TP53 mutation • MYCN amplification • PTCH1 mutation • KMT2C mutation • SUFU mutation
over3years
Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution. (PubMed, Childs Nerv Syst)
Patients with SHH medulloblastoma should routinely undergo genetic testing. We propose that whole genome, whole exome sequence, or custom-designed panel-targeted exome sequencing should be performed.
Retrospective data • Journal
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TP53 (Tumor protein P53) • PTCH1 (Patched 1) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling)
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TP53 mutation • PTCH1 mutation • SUFU mutation
over3years
Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma. (PubMed, Am J Dermatopathol)
This observation was of particular interest given that rare kindreds of the Multiple Hereditary Infundibulocystic BCC syndrome (MHIBCC), which is related, but possibly distinct from the nevoid BCC syndrome, harbored mutations in SUFU. Our results support the classification of the infundibulocystic variant as a subtype of BCC, and suggest that the level at which genetic alterations occur within the Hedgehog pathway may be an important determinant of the morphologic features in BCC.
Journal
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PTCH1 (Patched 1) • SMO (Smoothened Frizzled Class Receptor) • GLI1 (GLI Family Zinc Finger 1) • SUFU (SUFU Negative Regulator Of Hedgehog Signaling) • GLI2 (GLI Family Zinc Finger 2)
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PTCH1 mutation • SUFU mutation