Screening (oncology)

Citations 11-20 of 181 total displayed.

Letters to JMG
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family

Z Fan, J Li, J Du, H Zhang, Y Shen, C-Y Wang, S Wang
J. Med. Genet. 2008 45: 303 -308; published online before print as 10.1136/jmg.2007.055343 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

S Aretz, D Stienen, S Uhlhaas, M Stolte, M M Entius, S Loff, W Back, A Kaufmann, K-M Keller, S H Blaas, R Siebert, S Vogt, S Spranger, E Holinski-Feder, L Sunde, P Propping, W Friedl
J. Med. Genet. 2007 44: 702 -709; published online before print as 10.1136/jmg.2007.052506 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

M Mannelli, T Ercolino, V Giachè, L Simi, C Cirami, G Parenti
J. Med. Genet. 2007 44: 586 -587; published online before print as 10.1136/jmg.2007.051045 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

S Sharif, A Moran, S M Huson, R Iddenden, A Shenton, E Howard, D G R Evans
J. Med. Genet. 2007 44: 481 -484; published online before print as 10.1136/jmg.2007.049346 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

Richard H Scott, Tessa Homfray, Nicola L Huxter, Sally G Mitton, Ruth Nash, Mike N Potter, Donna Lancaster, Nazneen Rahman
J. Med. Genet. 2007; 44: e83. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Should healthcare providers have a duty to warn family members of individuals with an HNPCC-causing mutation? A survey of patients from the Ontario Familial Colon Cancer Registry

Kelly Kohut, Michael Manno, Steven Gallinger, Mary Jane Esplen
J. Med. Genet. 2007; 44: 404-407. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings

Donatella Colaizzo, Lucio Amitrano, Luigi Iannaccone, Patrizia Vergura, Filomena Cappucci, Elvira Grandone, Maria Anna Guardascione, Maurizio Margaglione
J. Med. Genet. 2007 44: 412 -416; published online before print as 10.1136/jmg.2006.048371 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

Jacques Simard, Martine Dumont, Anne-Marie Moisan, Valérie Gaborieau, Hélène Vézina, Francine Durocher, Jocelyne Chiquette, Marie Plante, Denise Avard, Paul Bessette, Claire Brousseau, Michel Dorval, Béatrice Godard, Louis Houde, Yann Joly, Marie-Andrée Lajoie, Gilles Leblanc, Jean Lépine, Bernard Lespérance, Hélène Malouin, Jillian Parboosingh, Roxane Pichette, Louise Provencher, Josée Rhéaume, Daniel Sinnett, Carolle Samson, Jean-Claude Simard, Martine Tranchant, Patricia Voyer, INHERIT BRCAs, Douglas Easton, Sean V Tavtigian, Bartha-Maria Knoppers, Rachel Laframboise, Peter Bridge, David Goldgar
J. Med. Genet. 2007 44: 107 -121; published online before print as 10.1136/jmg.2006.044388 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

A Smith, A Moran, M C Boyd, M Bulman, A Shenton, L Smith, R Iddenden, E R Woodward, F Lalloo, E R Maher, D G R Evans
J. Med. Genet. 2007 44: 10 -15; published online before print as 10.1136/jmg.2006.043091 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells

Hafid Alazzouzi, Gianpaolo Suriano, Angel Guerra, Alberto Plaja, Eloi Espín, Manel Armengol, Pia Alhopuro, Sergia Velho, Yasuhisa Shinomura, Juan José González-Aguilera, Hiroyuki Yamamoto, Lauri A Aaltonen, Víctor Moreno, Gabriel Capellà, Miguel Angel Peinado, Raquel Seruca, Diego Arango, Simó Schwartz, Jr
J. Med. Genet. 2007 44: 75 -80; published online before print as 10.1136/jmg.2006.042572 [Abstract] [Full text] [PDF] [Request Permissions]