G2Cdb::Human Disease report

Disease id
D00000014
Name
Nasopharyngeal 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 (16114017) Unknown (?) ?
G00001624 PIK3CA
phosphoinositide-3-kinase, catalytic, alpha polypeptide
Y (17222361) Microinsertion (MI) Y

References

  • [Screening for mutations in the hotspot mutation regions of PIK3CA gene in nasopharyngeal carcinoma].

    Liu P, Li DJ, Qin HD, Zhang RH, Chen LZ and Zeng YX

    State Key Laboratory of Oncology in South China, Guangzhou, Guangdong, 510060, P. R. China.

    Recent studies showed high frequency of phosphatidylinositol 3-kinase catalytic alpha polypeptide (PIK3CA) mutations in various human cancers; notably, these mutations frequently locate in the hotspot mutation regions of PIK3CA exon 9 and exon 20 with functional significance in tumorigenesis, invasion, and anti-apoptosis. This study was to screen for mutations in the hotspot mutation regions of PIK3CA in nasopharyngeal carcinoma (NPC), and explore the correlation of PIK3CA mutations to tumorigenesis of NPC.

    Methods: PIK3CA exon 9 and exon 20 in 46 specimens of sporadic primary NPC tissues were screened by polymerase chain reaction (PCR)-clone sequencing; those in 46 samples of matched NPC peripheral blood and 3 NPC cell lines CNE1, CNE2, and SUNE1 were directly sequenced.

    Results: Among the 46 specimens of NPC, 2 (4.3%) had point mutation in PIK3CA exon 9 [T1563G (521Asn-->Lys) and A1646G (549Asp-->Gly)], 18 had multiple mutations in PIK3CA exon 9 (A1634C-G1658C-del 1659T), which might be the homologous sequence of Cat Eye Syndrome region on 22q11.2; none had mutation in PIK3CA exon 20. Moreover, no mutation was detected in PIK3CA exon 9 and exon 20 in the 46 matched NPC peripheral blood samples and CNE1, CNE2, and SUNE1 cells.

    Conclusions: PIK3CA exon 9 and exon 20 rarely mutate in NPC. Clone sequencing is more sensitive than direct sequencing in screening for somatic mutation. A1634C-G1658C-del 1659T mutations in PIK3CA exon 9, detected by clone sequencing, are supposed to be the homologous sequence of Cat Eye Syndrome region on 22q11.2 instead of mutations in PIK3CA.

    Ai zheng = Aizheng = Chinese journal of cancer 2007;26;1;15-20

  • PIK3CA mutations in nasopharyngeal carcinoma.

    Or YY, Hui AB, To KF, Lam CN and Lo KW

    International journal of cancer 2006;118;4;1065-7

Literature (2)

Pubmed - human_disease

  • [Screening for mutations in the hotspot mutation regions of PIK3CA gene in nasopharyngeal carcinoma].

    Liu P, Li DJ, Qin HD, Zhang RH, Chen LZ and Zeng YX

    State Key Laboratory of Oncology in South China, Guangzhou, Guangdong, 510060, P. R. China.

    Recent studies showed high frequency of phosphatidylinositol 3-kinase catalytic alpha polypeptide (PIK3CA) mutations in various human cancers; notably, these mutations frequently locate in the hotspot mutation regions of PIK3CA exon 9 and exon 20 with functional significance in tumorigenesis, invasion, and anti-apoptosis. This study was to screen for mutations in the hotspot mutation regions of PIK3CA in nasopharyngeal carcinoma (NPC), and explore the correlation of PIK3CA mutations to tumorigenesis of NPC.

    Methods: PIK3CA exon 9 and exon 20 in 46 specimens of sporadic primary NPC tissues were screened by polymerase chain reaction (PCR)-clone sequencing; those in 46 samples of matched NPC peripheral blood and 3 NPC cell lines CNE1, CNE2, and SUNE1 were directly sequenced.

    Results: Among the 46 specimens of NPC, 2 (4.3%) had point mutation in PIK3CA exon 9 [T1563G (521Asn-->Lys) and A1646G (549Asp-->Gly)], 18 had multiple mutations in PIK3CA exon 9 (A1634C-G1658C-del 1659T), which might be the homologous sequence of Cat Eye Syndrome region on 22q11.2; none had mutation in PIK3CA exon 20. Moreover, no mutation was detected in PIK3CA exon 9 and exon 20 in the 46 matched NPC peripheral blood samples and CNE1, CNE2, and SUNE1 cells.

    Conclusions: PIK3CA exon 9 and exon 20 rarely mutate in NPC. Clone sequencing is more sensitive than direct sequencing in screening for somatic mutation. A1634C-G1658C-del 1659T mutations in PIK3CA exon 9, detected by clone sequencing, are supposed to be the homologous sequence of Cat Eye Syndrome region on 22q11.2 instead of mutations in PIK3CA.

    Ai zheng = Aizheng = Chinese journal of cancer 2007;26;1;15-20

Pubmed - other

  • PIK3CA mutations in nasopharyngeal carcinoma.

    Or YY, Hui AB, To KF, Lam CN and Lo KW

    International journal of cancer 2006;118;4;1065-7

© 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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