Urological cancer

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

Journal of Medical Genetics Jun 2008, 45 (6) 321-331; DOI: 10.1136/jmg.2007.054304
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

Journal of Medical Genetics Sep 2007, 44 (9) 588-593; DOI: 10.1136/jmg.2007.049874
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

Journal of Medical Genetics Nov 2006, 43 (11) 856-862; DOI: 10.1136/jmg.2006.041731
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer
C Cybulski, D Wokołorczyk, T Huzarski, T Byrski, J Gronwald, B Górski, T Dębniak, B Masojć, 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 Małkiewicz, A Borkowski, T Borkowski, M Szwiec, S A Narod, J Lubiński

Journal of Medical Genetics Nov 2006, 43 (11) 863-866; DOI: 10.1136/jmg.2006.044974
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

Journal of Medical Genetics Sep 2006, 43 (9) 755-762; DOI: 10.1136/jmg.2006.041087
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

Journal of Medical Genetics Jun 2006, 43 (6) 523-526; DOI: 10.1136/jmg.2005.036400
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

Journal of Medical Genetics Jun 2006, 43 (6) 507-511; DOI: 10.1136/jmg.2005.035790
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

Journal of Medical Genetics Jan 2006, 43 (1) 18-27; DOI: 10.1136/jmg.2005.033506
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

Journal of Medical Genetics Sep 2005, 42 (9) 711-719; DOI: 10.1136/jmg.2004.028829
cDNA microarray analysis assists in diagnosis of malignant intrarenal pheochromocytoma originally masquerading as a renal cell carcinoma
M Takahashi, X J Yang, S McWhinney, N Sano, C Eng, S Kagawa, B T Teh, H-O Kanayama

Journal of Medical Genetics Aug 2005, 42 (8) e48; DOI: 10.1136/jmg.2005.031708

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