rs6443624

This variant is located in the PIK3CA gene.

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Research that mentions this SNP (1)

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Roles of genetic variants in the PI3K and RAS/RAF pathways in susceptibility to endometrial cancer and clinical outcomes
AssociationN=345Li-E Wang et al.(2012)· Journal of Cancer Research and Clinical Oncology

Case-control study (115 endometrial cancer patients, 230 controls) examining genetic variants in PI3K/PTEN/AKT/mTOR and RAS/RAF/MEK/ERK pathways. Key findings: PIK3CA rs6443624 and rs9838411 decreased risk (OR 0.62 and 0.59), AKT1 rs2498801 increased risk (OR 1.94), while PIK3CA rs6443624 and KRAS rs7312175 affected recurrence (HR 5.22 and 3.82 respectively).

Traits studied:endometrial cancerendometrial cancer recurrenceendometrial cancer riskendometrial cancer survival
PubMedDOIMetascience Observatory

About PIK3CA

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

View all PIK3CA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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