Urological cancer

Citations 1-10 of 51 total displayed.

Mutation report
Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome

S M Maas, M P Lombardi, A J van Essen, E L Wakeling, B Castle, I K Temple, V K A Kumar, K Writzl, Raoul C M Hennekam
J. Med. Genet. 2009 46: 716 -720; published online before print as 10.1136/jmg.2009.068403 [Abstract] [Full text] [PDF] [Request Permissions]  

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]  

Letters to JMG
Mutations of the Birt–Hogg–Dubé gene in patients with multiple lung cysts and recurrent pneumothorax

Yoko Gunji, Taeko Akiyoshi, Teruhiko Sato, Masatoshi Kurihara, Shigeru Tominaga, Kazuhisa Takahashi, Kuniaki Seyama
J. Med. Genet. 2007 44: 588 -593; published online before print as 10.1136/jmg.2007.049874 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies

S-M Karppinen, R B Barkardottir, K Backenhorn, T Sydenham, K Syrjäkoski, J Schleutker, T Ikonen, K Pylkäs, K Rapakko, H Erkko, G Johannesdottir, A-M Gerdes, M Thomassen, B A Agnarsson, M Grip, A Kallioniemi, J Kere, L A Aaltonen, A Arason, P Møller, T A Kruse, Å Borg, R Winqvist
J. Med. Genet. 2006 43: 856 -862; published online before print as 10.1136/jmg.2006.041731 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer

C Cybulski, D Wokolorczyk, T Huzarski, T Byrski, J Gronwald, B Górski, T Debniak, B Masojc, A Jakubowska, B Gliniewicz, A Sikorski, M Stawicka, D Godlewski, Z Kwias, A Antczak, K Krajka, W Lauer, M Sosnowski, P Sikorska-Radek, K Bar, R Klijer, R Zdrojowy, B Malkiewicz, A Borkowski, T Borkowski, M Szwiec, S A Narod, J Lubinski
J. Med. Genet. 2006 43: 863 -866; published online before print as 10.1136/jmg.2006.044974 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer

M Pithukpakorn, M-H Wei, O Toure, P J Steinbach, G M Glenn, B Zbar, W M Linehan, J R Toro
J. Med. Genet. 2006 43: 755 -762; published online before print as 10.1136/jmg.2006.041087 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history

R A Kittles, A B Baffoe-Bonnie, T Y Moses, C M Robbins, C Ahaghotu, P Huusko, C Pettaway, S Vijayakumar, J Bennett, G Hoke, T Mason, S Weinrich, J M Trent, F S Collins, S Mousses, J Bailey-Wilson, P Furbert-Harris, G Dunston, I J Powell, J D Carpten
J. Med. Genet. 2006 43: 507 -511; published online before print as 10.1136/jmg.2005.035790 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Increased risk of cancer in patients with fumarate hydratase germline mutation

H J Lehtonen, M Kiuru, S K Ylisaukko-oja, R Salovaara, R Herva, P A Koivisto, O Vierimaa, K Aittomäki, E Pukkala, V Launonen, L A Aaltonen
J. Med. Genet. 2006 43: 523 -526; published online before print as 10.1136/jmg.2005.036400 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer

M-H Wei, O Toure, G M Glenn, M Pithukpakorn, L Neckers, C Stolle, P Choyke, R Grubb, L Middelton, M L Turner, M M Walther, M J Merino, B Zbar, W M Linehan, J R Toro
J. Med. Genet. 2006 43: 18 -27; published online before print as 10.1136/jmg.2005.033506 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

C J van Asperen, R M Brohet, E J Meijers-Heijboer, N Hoogerbrugge, S Verhoef, H F A Vasen, M G E M Ausems, F H Menko, E B Gomez Garcia, J G M Klijn, F B L Hogervorst, J C van Houwelingen, L J van’t Veer, M A Rookus, F E van Leeuwen on behalf of the Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON)
J. Med. Genet. 2005; 42: 711-719. [Abstract] [Full text] [PDF] [Request Permissions] [ Erratum ]