Cancer: dermatological

Citations 1-10 of 32 total displayed.

Original articles
CDKN2A mutations and melanoma risk in the Icelandic population

A M Goldstein, S N Stacey, J H Olafsson, G F Jonsson, A Helgason, P Sulem, B Sigurgeirsson, K R Benediktsdottir, K Thorisdottir, R Ragnarsson, J Kjartansson, J Kostic, G Masson, K Kristjansson, J R Gulcher, A Kong, U Thorsteinsdottir, T Rafnar, M A Tucker, K Stefansson
J. Med. Genet. 2008 45: 284 -289; published online before print as 10.1136/jmg.2007.055376 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
CYLD mutations in familial skin appendage tumours

S Saggar, K A Chernoff, S Lodha, L Horev, S Kohl, R S Honjo, H R C Brandt, K Hartmann, J T Celebi
J. Med. Genet. 2008 45: 298 -302; published online before print as 10.1136/jmg.2007.056127 [Abstract] [Full text] [PDF] [Request Permissions]  

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
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno, Donato Calista, Lisa A Cannon Albright, Valerie Chaudru, Agnes Chompret, Francisco Cuellar, David E Elder, Paola Ghiorzo, Elizabeth M Gillanders, Nelleke A Gruis, Johan Hansson, David Hogg, Elizabeth A Holland, Peter A Kanetsky, Richard F Kefford, Maria Teresa Landi, Julie Lang, Sancy A Leachman, Rona M MacKie, Veronica Magnusson, Graham J Mann, Julia Newton Bishop, Jane M Palmer, Susana Puig, Joan A Puig-Butille, Mitchell Stark, Hensin Tsao, Margaret A Tucker, Linda Whitaker, Emanuel Yakobson, The Lund Melanoma Study Group and the Melanoma Genetics Consortium (GenoMEL)
J. Med. Genet. 2007 44: 99 -106; published online before print as 10.1136/jmg.2006.043802 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability

K B Niendorf, W Goggins, G Yang, K Y Tsai, M Shennan, D W Bell, A J Sober, D Hogg, H Tsao
J. Med. Genet. 2006 43: 501 -506; published online before print as 10.1136/jmg.2005.032441 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome

X (R) Yang, R M Pfeiffer, A M Goldstein
J. Med. Genet. 2006; 43: e16. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Comprehensive analysis of CDKN2A (p16^INK4A/p14^ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma

K Laud, C Marian, M F Avril, M Barrois, A Chompret, A M Goldstein, M A Tucker, P A Clark, G Peters, V Chaudru, F Demenais, A Spatz, M W Smith, G M Lenoir, B Bressac-de Paillerets French Hereditary Melanoma Study Group
J. Med. Genet. 2006 43: 39 -47; published online before print as 10.1136/jmg.2005.033498 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A common variant of CDKN2A (p16) predisposes to breast cancer

T Debniak, B Górski, T Huzarski, T Byrski, C Cybulski, A Mackiewicz, S Gozdecka-Grodecka, J Gronwald, E Kowalska, O Haus, E Grzybowska, M Stawicka, M Swiec, K Urbanski, S Niepsuj, B Wasko, S Gózdz, P Wandzel, C Szczylik, D Surdyka, A Rozmiarek, O Zambrano, M Posmyk, S A Narod, J Lubinski
J. Med. Genet. 2005 42: 763 -765; published online before print as 10.1136/jmg.2005.031476 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population

J C Y Loo, A D Paterson, A Hao, M Shennan, H Peretz, Y Sidi, D Hogg, E Yakobson
J. Med. Genet. 2005; 42: e30. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers

J Huang, S M Domchek, M S Brose, T R Rebbeck, K L Nathanson, B L Weber
J. Med. Genet. 2004; 41: e120. [Extract] [Full text] [PDF] [Request Permissions]