Literature DB >> 11332399

Sensitivity and predictive value of criteria for p53 germline mutation screening.

A Chompret, A Abel, D Stoppa-Lyonnet, L Brugiéres, S Pagés, J Feunteun, C Bonaïti-Pellié.   

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Year:  2001        PMID： 11332399      PMCID： PMC1734716          DOI： 10.1136/jmg.38.1.43

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


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  90 in total

1.  Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.

Authors:  Mandy L Ballinger; Ana Best; Phuong L Mai; Payal P Khincha; Jennifer T Loud; June A Peters; Maria Isabel Achatz; Rubens Chojniak; Alexandre Balieiro da Costa; Karina Miranda Santiago; Judy Garber; Allison F O'Neill; Rosalind A Eeles; D Gareth Evans; Eveline Bleiker; Gabe S Sonke; Marielle Ruijs; Claudette Loo; Joshua Schiffman; Anne Naumer; Wendy Kohlmann; Louise C Strong; Jasmina Bojadzieva; David Malkin; Surya P Rednam; Elena M Stoffel; Erika Koeppe; Jeffrey N Weitzel; Thomas P Slavin; Bita Nehoray; Mark Robson; Michael Walsh; Lorenzo Manelli; Anita Villani; David M Thomas; Sharon A Savage
Journal:  JAMA Oncol       Date:  2017-12-01       Impact factor: 31.777

2.  Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study.

Authors:  Judy Mouchawar; Christopher Korch; Tim Byers; Todd M Pitts; Efang Li; Margaret R E McCredie; Graham G Giles; John L Hopper; Melissa C Southey
Journal:  Cancer Res       Date:  2010-05-25       Impact factor: 12.701

3.  Prevalence of TP53 germ line mutations in young Pakistani breast cancer patients.

Authors:  Muhammad U Rashid; Sidra Gull; Kashif Asghar; Noor Muhammad; Asim Amin; Ute Hamann
Journal:  Fam Cancer       Date:  2012-06       Impact factor: 2.375

4.  PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history.

Authors:  F Alarcon; C Bourgain; M Gauthier-Villars; V Planté-Bordeneuve; D Stoppa-Lyonnet; C Bonaïti-Pellié
Journal:  Genet Epidemiol       Date:  2009-07       Impact factor: 2.135

5.  BAP1 and breast cancer risk.

Authors:  Isabelle Coupier; Pierre-Yves Cousin; David Hughes; Patricia Legoix-Né; Alexandra Trehin; Olga M Sinilnikova; Dominique Stoppa-Lyonnet
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

6.  TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.

Authors:  J J Bakhuizen; F B Hogervorst; M E Velthuizen; M W Ruijs; K van Engelen; T A van Os; J J Gille; M Collée; A M van den Ouweland; C J van Asperen; C M Kets; A R Mensenkamp; E M Leter; M J Blok; M M de Jong; M G Ausems
Journal:  Fam Cancer       Date:  2019-04       Impact factor: 2.375

Review 7.  The Inherited p53 Mutation in the Brazilian Population.

Authors:  Maria Isabel Achatz; Gerard P Zambetti
Journal:  Cold Spring Harb Perspect Med       Date:  2016-12-01       Impact factor: 6.915

8.  Prevalence of germline TP53 mutations in HER2+ breast cancer patients.

Authors:  Michelle G Rath; Serena Masciari; Rebecca Gelman; Alexander Miron; Penelope Miron; Kathleen Foley; Andrea L Richardson; Ian E Krop; Sigitas J Verselis; Deborah A Dillon; Judy E Garber
Journal:  Breast Cancer Res Treat       Date:  2013-04-12       Impact factor: 4.872

9.  Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations.

Authors:  Francesca Ponti; Serena Corsini; Maria Gnoli; Elena Pedrini; Marina Mordenti; Luca Sangiorgi
Journal:  Fam Cancer       Date:  2016-10       Impact factor: 2.375

10.  Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.

Authors:  Juliette Aury-Landas; Gaëlle Bougeard; Hélène Castel; Hector Hernandez-Vargas; Aurélie Drouet; Jean-Baptiste Latouche; Marie-Thérèse Schouft; Claude Férec; Dominique Leroux; Christine Lasset; Isabelle Coupier; Olivier Caron; Zdenko Herceg; Thierry Frebourg; Jean-Michel Flaman
Journal:  Eur J Hum Genet       Date:  2013-04-24       Impact factor: 4.246
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