Oncology

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
Porcia T Bradford, Alisa M Goldstein, Deborah Tamura, Sikandar G Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, Kyoko Imoto, Hiroki Inui, Shin-Ichi Moriwaki, Steffen Emmert, Kristen M Pike, Arati Raziuddin, Teri M Plona, John J DiGiovanna, Margaret A Tucker, Kenneth H Kraemer

Journal of Medical Genetics Mar 2011, 48 (3) 168-176; DOI: 10.1136/jmg.2010.083022
Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population
Y He, G Zhou, Y Zhai, X Dong, L Lv, F He, K Yao

Journal of Medical Genetics Feb 2005, 42 (2) 172-176; DOI: 10.1136/jmg.2004.022616
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases
Isabel Spier, Dmitriy Drichel, Martin Kerick, Jutta Kirfel, Sukanya Horpaopan, Andreas Laner, Stefanie Holzapfel, Sophia Peters, Ronja Adam, Bixiao Zhao, Tim Becker, Richard P Lifton, Sven Perner, Per Hoffmann, Glen Kristiansen, Bernd Timmermann, Markus M Nöthen, Elke Holinski-Feder, Michal R Schweiger, Stefan Aretz

Journal of Medical Genetics Mar 2016, 53 (3) 172-179; DOI: 10.1136/jmedgenet-2015-103468
Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC
F Di Fiore, F Charbonnier, C Martin, S Frerot, S Olschwang, Q Wang, C Boisson, M-P Buisine, M Nilbert, A Lindblom, T Frebourg

Journal of Medical Genetics Jan 2004, 41 (1) 18-20; DOI: 10.1136/jmg.2003.012062
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
Renal tumour suppressor function of the Birt–Hogg–Dubé syndrome gene product folliculin
V Hudon, S Sabourin, A B Dydensborg, V Kottis, A Ghazi, M Paquet, K Crosby, V Pomerleau, N Uetani, A Pause

Journal of Medical Genetics Mar 2010, 47 (3) 182-189; DOI: 10.1136/jmg.2009.072009
Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis
S Aretz, D Stienen, S Uhlhaas, C Pagenstecher, E Mangold, R Caspari, P Propping, W Friedl

Journal of Medical Genetics Feb 2005, 42 (2) 185-192; DOI: 10.1136/jmg.2004.022822
A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer
Jonathon Gray, Kate Brain, Paul Norman, Cathy Anglim, Liz France, Garry Barton, Lucy Branston, Evelyn Parsons, Angus Clarke, Julian Sampson, Elizabeth Roberts, Robert Newcombe, David Cohen, Cerilan Rogers, Robert Mansel, Peter Harper

Journal of Medical Genetics Mar 2000, 37 (3) 192-196; DOI: 10.1136/jmg.37.3.192
ATM mutations in Finnish breast cancer patients
M Allinen, V Launonen, K Laake, L Jansen, P Huusko, H Kääriäinen, A-L Børresen-Dale, R Winqvist

Journal of Medical Genetics Mar 2002, 39 (3) 192-196; DOI: 10.1136/jmg.39.3.192
A clinical study of type 1 neurofibromatosis in north west England
J M McGaughran, D I Harris, D Donnai, D Teare, R MacLeod, R Westerbeek, H Kingston, M Super, R Harris, D G R Evans

Journal of Medical Genetics Mar 1999, 36 (3) 197-203; DOI: 10.1136/jmg.36.3.197

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