Medical Knowledge Cockpit medulloblastoma

SUFU

• Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1

 

BRCA2

• A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes
• Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2
• BRCA2 associates with acetyltransferase activity when bound to P/CAF
• Phosphorylation of BRCA2 by the Polo-like kinase Plk1 is regulated by DNA damage and mitotic progression
• Analysis of murine Brca2 reveals conservation of protein-protein interactions but differences in nuclear localization signals

• M phase-specific phosphorylation of BRCA2 by Polo-like kinase 1 correlates with the dissociation of the BRCA2-P/CAF complex
• Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2
• Dynamic control of Rad51 recombinase by self-association and interaction with BRCA2
• The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment
• RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2

 

SUFU

Somatic tumors

medulloblastoma

Tumor types germline

medulloblastoma

Cancer Syndrom

medulloblastoma predisposition

Translocation partner

Name

suppressor of fused homolog (Drosophila)

Chromosome banding

10q24.32

Cancer molecular gen.

Rec

Mutation type

D, F, S

Other syndrome disease

 

BRCA2

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovariancancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologousrecombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motifcalled the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair.BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss ofheterozygosity (LOH) of the wild-type allele. (provided by RefSeq, Dec 2008)

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovariancancer

Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologousrecombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motifcalled the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair.BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss ofheterozygosity (LOH) of the wild-type allele. (provided by RefSeq, Dec 2008)

 

• Fanconi anemia pathway
  Homo sapiens (human) one gene

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