G2Cdb::Human Disease report

Disease id
D00000043
Name
Cervical cancer
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002235 CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
Y (12883680) No mutation found (N) N

References

  • Mutation analysis of CTNNB1 (beta-catenin) and AXIN1, the components of Wnt pathway, in cervical carcinomas.

    Su TH, Chang JG, Yeh KT, Lin TH, Lee TP, Chen JC and Lin CC

    Department of Molecular Medicine, China Medical College Hospital, Taichung, Taiwan.

    The components of the Wnt-signaling pathway are mutated in tumors, but the relationship between these components and cervical cancer has not been elucidated. In this study, we used immunohistochemistry, single strand confirmation polymorphism (SSCP) and direct sequencing methods to analyze the mutation and protein expressions of both CTNNB1 and AXIN1 in cervical cancer. Among the 30 tested cervical cancers, no mutation of CTNNB1 but 3 polymorphisms were found. Mutation analysis of AXIN1 revealed that one specimen had a heterozygous mutation at codon 740 (GCC right curved arrow ACC) and six polymorphisms were also found. Immunohistochemistry showed no relationship between the protein expression patterns and mutation of AXIN1 and CTNNB1. Mutations of CTNNB1 may not be a factor, whereas mutations of AXIN1 may play a limited role in tumorigenesis of cervical cancer. In addition, aberrant expression patterns are not mutation related, so that other factors may be responsible for these changes.

    Oncology reports 2003;10;5;1195-200

Literature (1)

Pubmed - other

  • Mutation analysis of CTNNB1 (beta-catenin) and AXIN1, the components of Wnt pathway, in cervical carcinomas.

    Su TH, Chang JG, Yeh KT, Lin TH, Lee TP, Chen JC and Lin CC

    Department of Molecular Medicine, China Medical College Hospital, Taichung, Taiwan.

    The components of the Wnt-signaling pathway are mutated in tumors, but the relationship between these components and cervical cancer has not been elucidated. In this study, we used immunohistochemistry, single strand confirmation polymorphism (SSCP) and direct sequencing methods to analyze the mutation and protein expressions of both CTNNB1 and AXIN1 in cervical cancer. Among the 30 tested cervical cancers, no mutation of CTNNB1 but 3 polymorphisms were found. Mutation analysis of AXIN1 revealed that one specimen had a heterozygous mutation at codon 740 (GCC right curved arrow ACC) and six polymorphisms were also found. Immunohistochemistry showed no relationship between the protein expression patterns and mutation of AXIN1 and CTNNB1. Mutations of CTNNB1 may not be a factor, whereas mutations of AXIN1 may play a limited role in tumorigenesis of cervical cancer. In addition, aberrant expression patterns are not mutation related, so that other factors may be responsible for these changes.

    Oncology reports 2003;10;5;1195-200

© 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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