G2Cdb::Human Disease report

Disease id
D00000120
Name
Sporadic desmoid tumour
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 (10655994) Single nucleotide polymorphism (SNP) Y

References

  • A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene.

    Shitoh K, Konishi F, Iijima T, Ohdaira T, Sakai K, Kanazawa K and Miyaki M

    Hereditary Tumour Research Project, Tokyo Metropolitan Komagome Hospital, Japan.

    A 42 year old man without familial adenomatous polyposis had recurrent desmoid tumours in the left subclavicular site. Histological examination showed a typical desmoid tumour. Molecular analysis was performed in genomic DNA from this tumour, using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and direct sequencing methods. No mutation could be detected in the entire coding sequence of the APC gene, nor in H-ras, K-ras, N-ras, or p53 genes. On seeking a mutation of the beta catenin gene (CTNNB1), an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found. Immunohistochemical staining showed that accumulated beta catenin protein was predominantly localised in the nuclei of desmoid cells. This is the first example of a sporadic desmoid tumour in which a mutation of the beta catenin gene was revealed.

    Journal of clinical pathology 1999;52;9;695-6

Literature (1)

Pubmed - other

  • A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene.

    Shitoh K, Konishi F, Iijima T, Ohdaira T, Sakai K, Kanazawa K and Miyaki M

    Hereditary Tumour Research Project, Tokyo Metropolitan Komagome Hospital, Japan.

    A 42 year old man without familial adenomatous polyposis had recurrent desmoid tumours in the left subclavicular site. Histological examination showed a typical desmoid tumour. Molecular analysis was performed in genomic DNA from this tumour, using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and direct sequencing methods. No mutation could be detected in the entire coding sequence of the APC gene, nor in H-ras, K-ras, N-ras, or p53 genes. On seeking a mutation of the beta catenin gene (CTNNB1), an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found. Immunohistochemical staining showed that accumulated beta catenin protein was predominantly localised in the nuclei of desmoid cells. This is the first example of a sporadic desmoid tumour in which a mutation of the beta catenin gene was revealed.

    Journal of clinical pathology 1999;52;9;695-6

© 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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