Literature DB >> 11370630

Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

G Bougeard, J M Limacher, C Martin, F Charbonnier, A Killian, O Delattre, M Longy, P Jonveaux, J P Fricker, D Stoppa-Lyonnet, J M Flaman, T Frébourg.   

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Year:  2001        PMID： 11370630      PMCID： PMC1734839          DOI： 10.1136/jmg.38.4.253

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


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  21 in total

1.  Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo.

Authors:  H Caldas; M P Holloway; B M Hall; S J Qualman; R A Altura
Journal:  J Med Genet       Date:  2005-05-20       Impact factor: 6.318

2.  p53 mutations may be involved in malignant transformation of giant cell tumor of bone through interaction with GPX1.

Authors:  Taketo Okubo; Tsuyoshi Saito; Hiroyuki Mitomi; Tatsuya Takagi; Tomoaki Torigoe; Yoshiyuki Suehara; Kazuo Kaneko; Takashi Yao
Journal:  Virchows Arch       Date:  2013-06-08       Impact factor: 4.064

3.  Li-fraumeni syndrome.

Authors:  David Malkin
Journal:  Genes Cancer       Date:  2011-04

4.  Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.

Authors:  Shih-Jen Hwang; Guillermina Lozano; Christopher I Amos; Louise C Strong
Journal:  Am J Hum Genet       Date:  2003-02-27       Impact factor: 11.025

5.  Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

Authors:  Mieke Schutte; Sheila Seal; Rita Barfoot; Hanne Meijers-Heijboer; Marijke Wasielewski; D Gareth Evans; Diana Eccles; Carel Meijers; Frans Lohman; Jan Klijn; Ans van den Ouweland; P Andrew Futreal; Katherine L Nathanson; Barbara L Weber; Douglas F Easton; Michael R Stratton; Nazneen Rahman
Journal:  Am J Hum Genet       Date:  2003-02-27       Impact factor: 11.025

6.  TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.

Authors:  Raissa Coelho Andrade; Anna Claudia Evangelista Dos Santos; Joaquim Caetano de Aguirre Neto; Julián Nevado; Pablo Lapunzina; Fernando Regla Vargas
Journal:  Fam Cancer       Date:  2017-04       Impact factor: 2.375

7.  The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.

Authors:  Shelley Macaulay; Quintin Clive Goodyear; Mia Kruger; Wenlong Chen; Fahmida Essop; Amanda Krause
Journal:  Fam Cancer       Date:  2018-10       Impact factor: 2.375

Review 8.  Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology.

Authors:  Dawn C Allain
Journal:  J Mol Diagn       Date:  2008-08-07       Impact factor: 5.568

9.  Evaluation of a decision aid for families considering p53 genetic counseling and testing.

Authors:  Susan K Peterson; Rebecca D Pentz; Amie M Blanco; Patricia A Ward; Beatty G Watts; Salma K Marani; Leslie Colvin James; Louise C Strong
Journal:  Genet Med       Date:  2006-04       Impact factor: 8.822

10.  The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

Authors:  Marielle W G Ruijs; Annegien Broeks; Fred H Menko; Margreet G E M Ausems; Anja Wagner; Rogier Oldenburg; Hanne Meijers-Heijboer; Laura J van't Veer; Senno Verhoef
Journal:  Hered Cancer Clin Pract       Date:  2009-02-17       Impact factor: 2.857
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