Mutations in SUFU predispose to medulloblastoma

By Michael D. Taylor, Ling Liu, C. Raffel, C. Hui, T. Mainprize, Xiaoyun Zhang, R. Agatep, S. Chiappa, Luzhang Gao, Anja Lowrance and 9 more. Nature Genetics, 2002

830 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/94b1158ed75e07479cd5d7980c74691c04e26ff2

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In Genetics

1. Richard J. Gilbertson
2. Eric C. Holland

In Molecular Biology

1. Bauke Ylstra
2. Richard J. Gilbertson
3. Eric C. Holland
4. M. Magliano
5. Jason T. Huse
6. Matthias Hebrok

Citations in the corpus

• Hedgehog signalling in cancer formation and maintenance (2003, background): “Mutations in SUFU have been associated with an increased risk of medulloblastoma in human”
• Molecular subgroups of medulloblastoma: the current consensus (2011, background): “Similarly, somatic mutations of PTCH, SMO, and SUFU, as well as amplifications of GLI1 and GLI2 have been found in sporadic medulloblastoma [27, 30, 46].”
• Targeting brain cancer: advances in the molecular pathology of malignant glioma and medulloblastoma (2010, background): “Genomic alterations in components of the SHH signalling pathway, specifically inactivating mutations of PTCH1 and SUFU and/or activating mutations of SMO , have been found in ∼15% of sporadic medulloblastoma”
• Integrated Genomics Identifies Five Medulloblastoma Subtypes with Distinct Genetic Profiles, Pathway Signatures and Clinicopathological Features (2008, background): “Mutations in Sonic Hedgehog (SHH) pathway genes (PTCH1, SUFU) are found in approximately 25% of medulloblastomas, and in WNT pathway genes (b-catenin, APC, AXIN) in approximately 15% of the cases [17,19–23].”
• Multisite Protein Kinase A and Glycogen Synthase Kinase 3β Phosphorylation Leads to Gli3 Ubiquitination by SCFβTrCP (2006, background): “Deletion of the Nor C-terminal domain significantly diminished the levels of truncated Gli3 expressed from the corresponding N[461-1595] and C[1-1100] fragments (Fig.”
• Targeting cancer stem cell pathways for cancer therapy (2020, background): “234, 235 In addition, other genes also regulate the Hh signaling pathway.”