Literature DB >> 8825920

An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

J M Varley1, G McGown, M Thorncroft, K J Tricker, M D Teare, M F Santibanez-Koref, J Martin, J M Birch, D G Evans.   

Abstract

We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in all available affected subjects. Counselling, screening, and issues surrounding presymptomatic testing are discussed.

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Year:  1995        PMID： 8825920      PMCID： PMC1051773          DOI： 10.1136/jmg.32.12.942

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  25 in total

1.  Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals.

Authors:  F P Li; J E Garber; S H Friend; L C Strong; A F Patenaude; E T Juengst; P R Reilly; P Correa; J F Fraumeni
Journal:  J Natl Cancer Inst       Date:  1992-08-05       Impact factor: 13.506

2.  Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients.

Authors:  E D Lustbader; W R Williams; M L Bondy; S Strom; L C Strong
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

Review 3.  The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families.

Authors:  M D Teare; K Rohde; M F Santibáñez Koref
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

4.  Two families with the Li-Fraumeni cancer family syndrome.

Authors:  A D Pearson; A W Craft; J M Ratcliffe; J M Birch; P Morris-Jones; D F Roberts
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

5.  Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

Authors:  J Toguchida; T Yamaguchi; S H Dayton; R L Beauchamp; G E Herrera; K Ishizaki; T Yamamuro; P A Meyers; J B Little; M S Sasaki
Journal:  N Engl J Med       Date:  1992-05-14       Impact factor: 91.245

6.  Detection of loss of heterozygosity at the human TP53 locus using a dinucleotide repeat polymorphism.

Authors:  M H Jones; Y Nakamura
Journal:  Genes Chromosomes Cancer       Date:  1992-07       Impact factor: 5.006

7.  p53-deficient mice are extremely susceptible to radiation-induced tumorigenesis.

Authors:  C J Kemp; T Wheldon; A Balmain
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

8.  Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

Authors:  J M Birch; A L Hartley; K J Tricker; J Prosser; A Condie; A M Kelsey; M Harris; P H Jones; A Binchy; D Crowther
Journal:  Cancer Res       Date:  1994-03-01       Impact factor: 12.701

9.  Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.

Authors:  J M Birch; J Heighway; M D Teare; A M Kelsey; A L Hartley; K J Tricker; D Crowther; D P Lane; M F Santibáñez-Koref
Journal:  Br J Cancer       Date:  1994-12       Impact factor: 7.640

10.  Breast cancer risk in mothers of children with osteosarcoma and chondrosarcoma.

Authors:  A L Hartley; J M Birch; H B Marsden; M Harris
Journal:  Br J Cancer       Date:  1986-11       Impact factor: 7.640
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  15 in total

Review 1.  Quality of life: A critical outcome for all surgical treatments of gastric cancer.

Authors:  Michael D McCall; Peter J Graham; Oliver F Bathe
Journal:  World J Gastroenterol       Date:  2016-01-21       Impact factor: 5.742

Review 2.  Familial gastric cancer: overview and guidelines for management.

Authors:  C Caldas; F Carneiro; H T Lynch; J Yokota; G L Wiesner; S M Powell; F R Lewis; D G Huntsman; P D Pharoah; J A Jankowski; P MacLeod; H Vogelsang; G Keller; K G Park; F M Richards; E R Maher; S A Gayther; C Oliveira; N Grehan; D Wight; R Seruca; F Roviello; B A Ponder; C E Jackson
Journal:  J Med Genet       Date:  1999-12       Impact factor: 6.318

3.  Uptake of genetic testing for cancer predisposition.

Authors:  D G Evans; E R Maher; R Macleod; D R Davies; D Craufurd
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

4.  Treatment of resectable gastric cancer.

Authors:  Johan L Dikken; Cornelis J H van de Velde; Daniel G Coit; Manish A Shah; Marcel Verheij; Annemieke Cats
Journal:  Therap Adv Gastroenterol       Date:  2012-01       Impact factor: 4.409

Review 5.  Hereditary gastric cancer.

Authors:  F Carneiro
Journal:  Pathologe       Date:  2012-11       Impact factor: 1.011

6.  Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study.

Authors:  Linda Bardram; Thomas V O Hansen; Anne-Marie Gerdes; Susanne Timshel; Lennart Friis-Hansen; Birgitte Federspiel
Journal:  Fam Cancer       Date:  2014-06       Impact factor: 2.375

7.  Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.

Authors:  J M Varley; G McGown; M Thorncroft; L A James; G P Margison; G Forster; D G Evans; M Harris; A M Kelsey; J M Birch
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

8.  Clinical implications of E-cadherin associated hereditary diffuse gastric cancer.

Authors:  R C Fitzgerald; C Caldas
Journal:  Gut       Date:  2004-06       Impact factor: 23.059

9.  Gastric cancer: Classification, histology and application of molecular pathology.

Authors:  Bing Hu; Nassim El Hajj; Scott Sittler; Nancy Lammert; Robert Barnes; Aurelia Meloni-Ehrig
Journal:  J Gastrointest Oncol       Date:  2012-09

10.  TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

Authors:  Carla Pinto; Isabel Veiga; Manuela Pinheiro; Ana Peixoto; Armando Pinto; José M Lopes; Rui M Reis; Carla Oliveira; Manuela Baptista; Lúcia Roque; Fernando Regateiro; Luís Cirnes; Robert M W Hofstra; Raquel Seruca; Sérgio Castedo; Manuel R Teixeira
Journal:  Fam Cancer       Date:  2009-05-26       Impact factor: 2.375
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