RGD Reference Report - Mutations of the PIK3CA gene in hereditary colorectal cancers. - Rat Genome Database

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Mutations of the PIK3CA gene in hereditary colorectal cancers.

Authors: Miyaki, Michiko  Iijima, Takeru  Yamaguchi, Tatsuro  Takahashi, Keiichi  Matsumoto, Hiroshi  Yasutome, Michiya  Funata, Nobuaki  Mori, Takeo 
Citation: Miyaki M, etal., Int J Cancer. 2007 Oct 1;121(7):1627-30. doi: 10.1002/ijc.22829.
RGD ID: 14402406
Pubmed: PMID:17546593   (View Abstract at PubMed)
DOI: DOI:10.1002/ijc.22829   (Journal Full-text)

Somatic mutations of the PIK3CA gene have recently been detected in various human cancers, including sporadic colorectal cancer. However, mutations of the PIK3CA gene in hereditary colorectal cancers have not been clarified. To elucidate the mutation status in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC), which are the most common hereditary colorectal cancers, we investigated PIK3CA mutations in 163 colorectal tumors, including adenomas, intramucosal carcinomas and invasive carcinomas. For comparison, we also analyzed mutations of the same gene in 160 sporadic colorectal tumors at various histopathological stages. Analysis at exons 1, 7, 9 and 20 of the PIK3CA gene revealed somatic mutations in 21% (8 of 39) of FAP invasive carcinomas, 21% (7 of 34) of HNPCC invasive carcinomas, 15% (8 of 52) of sporadic invasive carcinomas, and 14% (7 of 50) of sporadic colorectal metastases in the liver. Mutations in FAP and HNPCC carcinomas predominantly occurred in the kinase domain (exon 20), while the majority of mutations in sporadic cases occurred in the helical domain (exon 9). Adenomas and intramucosal carcinomas from all patients exhibited no mutations (0 of 148). Our data suggest that PIK3CA mutations contribute to the invasion step from intramucosal carcinoma to invasive carcinoma in colorectal carcinogenesis in FAP and HNPCC patients at a similar extent to that seen in sporadic patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
colorectal carcinoma severityIAGP 14402406DNA:mutations:exons:RGD 
colorectal carcinoma severityISOPIK3CA (Homo sapiens)14402406; 14402406DNA:mutations:exons:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pik3ca  (phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha)

Genes (Mus musculus)
Pik3ca  (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

Genes (Homo sapiens)
PIK3CA  (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)


Additional Information