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Literature DB >> 9792154

A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.

J M Varley¹, G McGown, M Thorncroft, G R White, K J Tricker, A M Kelsey, J M Birch, D G Evans.

Abstract

We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1998 PMID： 9792154 PMCID： PMC2063148 DOI： 10.1038/bjc.1998.631

Source DB: PubMed Journal: Br J Cancer ISSN： 0007-0920 Impact factor: 7.640

9 in total

1. Somatic point mutations in the p53 gene of human tumors and cell lines: updated compilation.

Authors: M Hollstein; B Shomer; M Greenblatt; T Soussi; E Hovig; R Montesano; C C Harris
Journal: Nucleic Acids Res Date: 1996-01-01 Impact factor: 16.971

2. Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

Authors: J M Varley; G McGown; M Thorncroft; M F Santibanez-Koref; A M Kelsey; K J Tricker; D G Evans; J M Birch
Journal: Cancer Res Date: 1997-08-01 Impact factor: 12.701

3. Identification of intronic point mutations as an alternative mechanism for p53 inactivation in lung cancer.

Authors: T Takahashi; D D'Amico; I Chiba; D L Buchhagen; J D Minna
Journal: J Clin Invest Date: 1990-07 Impact factor: 14.808

4. Wilms' tumor in the Li-Fraumeni cancer family syndrome.

Authors: A L Hartley; J M Birch; K Tricker; S A Wallace; A M Kelsey; M Harris; P H Jones
Journal: Cancer Genet Cytogenet Date: 1993-06

5. Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family.

Authors: J M Varley; P Chapman; G McGown; M Thorncroft; G R White; M J Greaves; D Scott; A Spreadborough; K J Tricker; J M Birch; D G Evans; R Reddel; R S Camplejohn; J Burn; J M Boyle
Journal: Oncogene Date: 1998-06-25 Impact factor: 9.867

6. Splicing mutations of the p53 gene in human hepatocellular carcinoma.

Authors: M Y Lai; H C Chang; H P Li; C K Ku; P J Chen; J C Sheu; G T Huang; P H Lee; D S Chen
Journal: Cancer Res Date: 1993-04-01 Impact factor: 12.701

7. A cancer family syndrome in twenty-four kindreds.

Authors: F P Li; J F Fraumeni; J J Mulvihill; W A Blattner; M G Dreyfus; M A Tucker; R W Miller
Journal: Cancer Res Date: 1988-09-15 Impact factor: 12.701

8. p53 mutations in non-small cell lung cancer in Japan: association between mutations and smoking.

Authors: H Suzuki; T Takahashi; T Kuroishi; M Suyama; Y Ariyoshi; T Takahashi; R Ueda
Journal: Cancer Res Date: 1992-02-01 Impact factor: 12.701

9. Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations.

Authors: N Bardeesy; D Falkoff; M J Petruzzi; N Nowak; B Zabel; M Adam; M C Aguiar; P Grundy; T Shows; J Pelletier
Journal: Nat Genet Date: 1994-05 Impact factor: 38.330

9 in total

5 in total

1. Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.

Authors: Emilia M Pinto; Raul C Ribeiro; Gad B Kletter; John P Lawrence; Jesse J Jenkins; Jinling Wang; Sheila Shurtleff; Lisa McGregor; Richard W Kriwacki; Gerard P Zambetti
Journal: Fam Cancer Date: 2011-03 Impact factor: 2.375