Germline PMS2 mutations: One hit or two?

被引:13
作者
Gryfe, R [1 ]
Gallinger, S [1 ]
机构
[1] Univ Toronto, Samuel Lunenfeld Res Inst, Dept Surg, Toronto, ON, Canada
关键词
D O I
10.1053/j.gastro.2005.03.054
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
引用
收藏
页码:1506 / 1509
页数:4
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共 34 条
[1]   Early-onset brain tumor and lymphoma in MSH2-deficient children [J].
Bougeard, L ;
Charbonnier, FO ;
Moerman, A ;
Martin, C ;
Ruchoux, MM ;
Drouot, N ;
Frébourg, T .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (01) :213-216
[2]   Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer [J].
Carethers, JM ;
Smith, EJ ;
Behling, CA ;
Nguyen, L ;
Tajima, A ;
Doctolero, RT ;
Cabrera, BL ;
Goel, M ;
Arnold, CA ;
Miyai, K ;
Boland, CR .
GASTROENTEROLOGY, 2004, 126 (02) :394-401
[3]   The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas [J].
Cunningham, JM ;
Kim, CY ;
Christensen, ER ;
Tester, DJ ;
Parc, Y ;
Burgart, LJ ;
Halling, KC ;
McDonnell, SK ;
Schaid, DJ ;
Vockley, CW ;
Kubly, V ;
Nelson, H ;
Michels, VV ;
Thibodeau, SN .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) :780-790
[4]   Genetic predisposition to colorectal cancer [J].
de la Chapelle, A .
NATURE REVIEWS CANCER, 2004, 4 (10) :769-780
[5]   Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene [J].
De Rosa, M ;
Fasano, C ;
Panariello, L ;
Scarano, MI ;
Belli, G ;
Iannelli, A ;
Ciciliano, F ;
Izzo, P .
ONCOGENE, 2000, 19 (13) :1719-1723
[6]   Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome [J].
De Vos, M ;
Hayward, BE ;
Picton, S ;
Sheridan, E ;
Bonthron, DT .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (05) :954-964
[7]   Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation [J].
Gallinger, S ;
Aronson, M ;
Shayan, K ;
Ratcliffe, EM ;
Gerstle, JT ;
Parkin, PC ;
Rothenmund, H ;
Croitoru, M ;
Baumann, E ;
Durie, PR ;
Weksberg, R ;
Pollett, A ;
Riddell, RH ;
Ngan, BY ;
Cutz, E ;
Lagarde, AE ;
Chan, HSL .
GASTROENTEROLOGY, 2004, 126 (02) :576-585
[8]   Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer [J].
Gryfe, R ;
Kim, H ;
Hsieh, ETK ;
Aronson, MD ;
Holowaty, EJ ;
Bull, SB ;
Redston, M ;
Gallinger, S .
NEW ENGLAND JOURNAL OF MEDICINE, 2000, 342 (02) :69-77
[9]   Microsatellite instability, mismatch repair deficiency, and colorectal cancer [J].
Gryfe, R ;
Gallinger, S .
SURGERY, 2001, 130 (01) :17-20
[10]   Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers [J].
Halling, KC ;
French, AJ ;
McDonnell, SK ;
Burgart, LJ ;
Schaid, DJ ;
Peterson, BJ ;
Moon-Tasson, L ;
Mahoney, MR ;
Sargent, DJ ;
O'Connell, MJ ;
Witzig, TE ;
Farr, GH ;
Goldberg, RM ;
Thibodeau, SN .
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1999, 91 (15) :1295-1303