CNS cancer

Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?
A-M Martin, P A Kanetsky, B Amirimani, T A Colligon, G Athanasiadis, H A Shih, M R Gerrero, K Calzone, T R Rebbeck, B L Weber

Journal of Medical Genetics Apr 2003, 40 (4) e34; DOI: 10.1136/jmg.40.4.e34
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain
C Mattocks, D Baralle, P Tarpey, C ffrench-Constant, M Bobrow, J Whittaker

Journal of Medical Genetics Apr 2004, 41 (4) e48; DOI: 10.1136/jmg.2003.011890
Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients
A Cebrián, S Ruiz-Llorente, A Cascón, M Pollán, J J Díez, A Picó, D Tellería, J Benítez, M Robledo

Journal of Medical Genetics May 2003, 40 (5) e72; DOI: 10.1136/jmg.40.5.e72
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
H F A Vasen, Z Ghorbanoghli, F Bourdeaut, O Cabaret, O Caron, A Duval, N Entz-Werle, Y Goldberg, D Ilencikova, C P Kratz, N Lavoine, J Loeffen, F H Menko, M Muleris, G Sebille, C Colas, B Burkhardt, L Brugieres, K Wimmer, on behalf of the EU-Consortium Care for CMMR-D (C4CMMR-D)

Journal of Medical Genetics May 2014, 51 (5) 283-293; DOI: 10.1136/jmedgenet-2013-102238

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