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26 Possible Causes for Mutation in the CDK6 Gene

  • Pancreatic Neoplasm

    Thus when mutations in the CDKN2A gene disrupt the function of p16(INK4), there is improper progression from the G1 to the S phase, allowing continued, uncontrolled cell proliferation[ncbi.nlm.nih.gov] These proteins normally act at the G1/S checkpoint in the cell cycle, where they inhibit the cyclin-dependent kinases CDK4 and CDK6, thus preventing phosphorylation of the[ncbi.nlm.nih.gov]

  • Biliary Carcinoma

    This tendency is the same as that for K-ras mutations and the pancreaticobiliary maljunction may override the effect of p53 gene mutations.[atlasgeneticsoncology.org] Gene Name CDKN2A (cyclin dependent kinase 2a / p16) Location 9p21.3 Dna / Rna 3 exons Protein Regulatory protein in the cell cycle and cyclin-dependent kinase ( cdk4 / cdk6[atlasgeneticsoncology.org] The tumor suppressor gene p16 is commonly inactivated in many neoplasms.[atlasgeneticsoncology.org]

  • Rhabdomyosarcoma

    The discovery that p16 gene is mutated or deleted in a striking proportion of human tumors raised the possibility that abnormalities in p16 might predispose to cancer development[ncbi.nlm.nih.gov] […] induces dephosphoryla-tion of pRB by inhibiting binding of cyclin-dependent kinase (CDK)4 and CDK6 to cyclin D, resulting in G1 growth arrest.[ncbi.nlm.nih.gov] […] associated with loss of heterozygosity (LOH) at the 11p15 locus, which affects the expres-sion of insulinlike growth factor (IGF), a growth factor of RMS. p16INK4A (p16) gene[ncbi.nlm.nih.gov]

  • Autosomal Recessive Primary Microcephaly 12

    […] in the ZNF335 gene ({610827}) on 20q13; MCPH11 ({615414}), caused by mutation in the PHC1 gene ({602978}) on 12p13; MCPH12 ({616080}), caused by mutation in the CDK6 gene[diseaseinfosearch.org] ({603368}) on 7q21; MCPH13 ({616051}), caused by mutation in the CENPE gene ({117143}) on 4q24; MCPH14 ({616402}), caused by mutation in the SASS6 gene ({609321}) on 1p21[diseaseinfosearch.org] 614673}), caused by mutation in the CEP135 gene ({611423}) on 4q12; MCPH9 ({614852}), caused by mutation in the CEP152 gene ({613529}) on 15q21; MCPH10 ({615095}), caused by mutation[diseaseinfosearch.org]

  • Adenocarcinoma of Gallbladder and Extrahepatic Biliary Tract

    This tendency is the same as that for K-ras mutations and the pancreaticobiliary maljunction may override the effect of p53 gene mutations.[atlasgeneticsoncology.org] Gene Name CDKN2A (cyclin dependent kinase 2a / p16) Location 9p21.3 Dna / Rna 3 exons Protein Regulatory protein in the cell cycle and cyclin-dependent kinase ( cdk4 / cdk6[atlasgeneticsoncology.org] The tumor suppressor gene p16 is commonly inactivated in many neoplasms.[atlasgeneticsoncology.org]

  • Oropharyngeal Carcinoma

    Notably, germline mutations in TP53 and RB1 genes are associated with high risks for lung cancer (and other specific cancers, in particular retinoblastomas in RB1 mutated[doi.org] The CDKN2A encoded proteins p16-INK4A and p14-ARF are cell cycle inhibitors and tumour suppressors, where p16-INK4A is an inhibitor of CDK4/CDK6 in the retinoblastoma pathway[doi.org]

  • Gastric Adenocarcinoma

    In Pt2, the SETBP1 gene (p.S944N) was mutated, as it is in myeloid malignancies ( 20 ), together with amplification of AKAP9 and CDK6 (cyclin-dependent kinase 6).[pnas.org] Intriguingly, mutations of the gene encoding the voltage-dependent calcium channel protein, CACNA1D p.V529G , was found in both Pt1 and Pt2.[pnas.org] Consistent with the higher mutation rate in Pt1, mutations were found in several DNA-mismatch repair and chromatin remodeling genes, including MSH6 , TGFBR2 , KDM5A , and[pnas.org]

  • Gallbladder Carcinoma

    This tendency is the same as that for K-ras mutations and the pancreaticobiliary maljunction may override the effect of p53 gene mutations.[atlasgeneticsoncology.org] Gene Name CDKN2A (cyclin dependent kinase 2a / p16) Location 9p21.3 Dna / Rna 3 exons Protein Regulatory protein in the cell cycle and cyclin-dependent kinase ( cdk4 / cdk6[atlasgeneticsoncology.org] The tumor suppressor gene p16 is commonly inactivated in many neoplasms.[atlasgeneticsoncology.org]

  • Glioblastoma Multiforme

    The inherited predisposition factors in pediatric HGG are as follows: germline mutations in tumor suppressor genes TP53 and neurofibromin 1 (NF1); oncogenic NTRK fusions [[doi.org] […] tropomyosin 3 (TPM3)-NTRK1 and BTBD1-NTRK3]; PDGFRA mutation; EGFR mutation; focal amplification of CDK4, CDK6, cyclin D1 (CCND1), CCND2, or CCND3; histone H3.1 mutation;[doi.org]

  • Medulloblastoma

    Poor prognosis: Group 3, MYC amplification, photoreceptor/GABAergic gene expression Intermediate prognosis: Group 4, gene expression of neuronal/glutamatergic, CDK6 amplification[en.wikipedia.org] The cells have MYC amplification and gene expression of photorecepto/GABAergic. Group 4. This is the most common sub-group. CDK6 and MYCN are amplified.[cedars-sinai.org] Very good prognosis: WNT group, CTNNB1 mutation Infants good prognosis, others intermediate: SHH group, PTCH1/SMO/SUFU mutation, GLI2 amplification, or MYCN amplification[en.wikipedia.org]

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