G2Cdb::Allele report

Mutation type

Altered genes (1)

Gene Symbol Species Description
G00001444 PPP2R1A Homo sapiens protein phosphatase 2, regulatory subunit A, alpha

Diseases (1)

Disease Description Nervous effect
D00000060 Wilms tumour N

Literature (1)

Pubmed - other

  • Absence of PPP2R1A mutations in Wilms tumor.

    Ruteshouser EC, Ashworth LK and Huff V

    Department of Experimental Pediatrics, The University of Texas MD Anderson Cancer Center, Houston, Texas, TX 77030, USA.

    Evidence from genetic linkage analysis indicates that a gene located at 19q13.4, FWT2, is responsible for predisposition to Wilms tumor in many Wilms tumor families. This region has also been implicated in the etiology of sporadic Wilms tumor through loss of heterozygosity analyses. The PPP2R1A gene, encoding the alpha isoform of the heterotrimeric serine/threonine protein phosphatase 2A (PP2A), is located within the FWT2 candidate region and is altered in breast and lung carcinomas. PPP2R1B, encoding the beta isoform, is mutated in lung, colon, and breast cancers. These findings suggested that both PPP2R1A and PPP2R1B may be tumor suppressor genes. Additionally, PP2A is important in fetal kidney growth and differentiation and has an expression pattern similar to that of the Wilms tumor suppressor gene WT1. Since PPP2R1A was therefore a compelling candidate for the FWT2 gene, we analysed the coding region of PPP2R1A in DNA and RNA samples from affected members of four Wilms tumor families and 30 sporadic tumors and identified no mutations in PPP2R1A in any of these 34 samples. We conclude that PPP2R1A is not the 19q familial Wilms tumor gene and that mutation of PPP2R1A is not a common event in the etiology of sporadic Wilms tumor.

    Funded by: NCI NIH HHS: CA16672, CA34936, CA78257

    Oncogene 2001;20;16;2050-4

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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