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PIK3CA R88Q
GenePIK3CA
Variantmissense
Amino Acid ChangeR88Q
Transcript ID (GRCh37/hg19)ENST00000263967
Codon88
Exon2
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 2
PIK3CA
Variants
PIK3CA R88Q
Primary Sites
Colon
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in PIK3CA have been found in 10--30% of colorectal cancers. KRAS, NRAS, BRAF and PIK3CA and non-functional PTEN predict resistance to anti-EGFR therapies in metastatic colorectal cancer. Recent 'molecular pathological epidemiology' (MPE) research has shown that aspirin use may be associated with better prognosis and clinical outcome in PIK3CA-mutated colorectal carcinoma, suggesting somatic PIK3CA mutation may be a molecular biomarker that predicts response to aspirin therapy. The R88Q mutation falls within the ABD domain of the p110a catalytic subunit and has been shown to result in gain-of-function in vitro. PIK3CA may be a target of directed therapy in some clinical settings.

Last updated: 2019-01-22 18:33:24 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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