G2Cdb::Human Disease report

Disease id
D00000050
Name
Ovarian carcinoma
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001624 PIK3CA
phosphoinositide-3-kinase, catalytic, alpha polypeptide
Y (15712344) Microinsertion (MI) ?

References

  • PIK3CA mutations in advanced ovarian carcinomas.

    Wang Y, Helland A, Holm R, Kristensen GB and Børresen-Dale AL

    Department of Gynecologic Oncology, The Norwegian Radium Hospital, N-0310, Oslo, Norway.

    PIK3CA belongs to the phosphatidylinositol 3-kinases (PI3Ks) family, which play an important role in proliferation, adherence, transformation and cell survival through the PI3K/AKT signaling pathway. Somatic activating mutations of this gene have recently been detected in several types of cancers. In the present study, 109 advanced ovarian carcinomas were analyzed for PIK3CA mutations in exon 9 and exon 20 by direct sequencing. Activating missense mutations were observed in 4 of the 109 tumors in addition to one variant leading no change of the PIK3CA protein. Two of the cases with mutations were mucinous and clear cell tumors, suggesting that PIK3CA mutations are more common in these rare histological types.

    Human mutation 2005;25;3;322

Literature (1)

Pubmed - other

  • PIK3CA mutations in advanced ovarian carcinomas.

    Wang Y, Helland A, Holm R, Kristensen GB and Børresen-Dale AL

    Department of Gynecologic Oncology, The Norwegian Radium Hospital, N-0310, Oslo, Norway.

    PIK3CA belongs to the phosphatidylinositol 3-kinases (PI3Ks) family, which play an important role in proliferation, adherence, transformation and cell survival through the PI3K/AKT signaling pathway. Somatic activating mutations of this gene have recently been detected in several types of cancers. In the present study, 109 advanced ovarian carcinomas were analyzed for PIK3CA mutations in exon 9 and exon 20 by direct sequencing. Activating missense mutations were observed in 4 of the 109 tumors in addition to one variant leading no change of the PIK3CA protein. Two of the cases with mutations were mucinous and clear cell tumors, suggesting that PIK3CA mutations are more common in these rare histological types.

    Human mutation 2005;25;3;322

© 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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