Screening (oncology)

Citations 1-10 of 181 total displayed.

Letters to JMG
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis

V Marcel, E I Palmero, P Falagan-Lotsch, G Martel-Planche, P Ashton-Prolla, M Olivier, R R Brentani, P Hainaut, M I Achatz
J. Med. Genet. 2009 46: 766 -772; published online before print as 10.1136/jmg.2009.066704 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
High frequency of de novo mutations in Li–Fraumeni syndrome

K D Gonzalez, C H Buzin, K A Noltner, D Gu, W Li, D Malkin, S S Sommer
J. Med. Genet. 2009 46: 689 -693; published online before print as 10.1136/jmg.2008.058958 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Apoptosis and cancer: mutations within caspase genes

S Ghavami, M Hashemi, S R Ande, B Yeganeh, W Xiao, M Eshraghi, C J Bus, K Kadkhoda, E Wiechec, A J Halayko, M Los
J. Med. Genet. 2009 46: 497 -510; published online before print as 10.1136/jmg.2009.066944 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Evaluation of a surveillance programme for women with a family history of breast cancer

M M Reis, M Tavakoli, J Dewar, D Goudie, A Cook, L McLeish, D Young, J Kenyon, M Steel
J. Med. Genet. 2009 46: 319 -323; published online before print as 10.1136/jmg.2008.064311 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Risk reducing mastectomy: outcomes in 10 European centres

D G R Evans, A D Baildam, E Anderson, A Brain, A Shenton, H F A Vasen, D Eccles, A Lucassen, G Pichert, H Hamed, P Moller, L Maehle, P J Morrison, D Stoppat-Lyonnet, H Gregory, E Smyth, D Niederacher, C Nestle-Krämling, J Campbell, P Hopwood, F Lalloo, A Howell
J. Med. Genet. 2009 46: 254 -258; published online before print as 10.1136/jmg.2008.062232 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

T Tucker, J M Friedman, R E Friedrich, R Wenzel, C Fünsterer, V-F Mautner
J. Med. Genet. 2009 46: 81 -85; published online before print as 10.1136/jmg.2008.061051 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients

J Balmaña, F Balaguer, S Castellví-Bel, E W Steyerberg, M Andreu, X Llor, R Jover, A Castells, S Syngal, for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
J. Med. Genet. 2008 45: 557 -563; published online before print as 10.1136/jmg.2008.059311 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma

A Russell-Swetek, A N West, J E Mintern, J Jenkins, C Rodriguez-Galindo, R Ribeiro, G P Zambetti
J. Med. Genet. 2008; 45: 603-606. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

G Bougeard, R Sesboüé, S Baert-Desurmont, S Vasseur, C Martin, J Tinat, L Brugières, A Chompret, B Bressac-de Paillerets, D Stoppa-Lyonnet, C Bonaïti-Pellié, T Frébourg, the French LFS working group
J. Med. Genet. 2008 45: 535 -538; published online before print as 10.1136/jmg.2008.057570 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

J R Toro, M-H Wei, G M Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, M J Merino, P A Pinto, S M Steinberg, L S Schmidt, W M Linehan
J. Med. Genet. 2008 45: 321 -331; published online before print as 10.1136/jmg.2007.054304 [Abstract] [Full text] [PDF] [Request Permissions]