Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer

被引：13
|
作者：
Marcos, Irene
Borrego, Salud
Urioste, Miguel
Garcia-Valles, Carmen
Antinolo, Guillermo
机构：
[1] Hosp Univ Virgen Rocio, Unidad Clin Genet & Reprod, Seville 41013, Spain
[2] Ctr Nacl Invest Oncol, Dept Genet Humana, Madrid, Spain
[3] Hosp Univ Virgen Rocio, Serv Cirugia Pediat, Seville, Spain
来源：
JOURNAL OF PEDIATRICS | 2006年 / 148卷 / 06期
关键词：
D O I：
10.1016/j.jpeds.2006.01.009
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Hereditary nonpolyposis colon cancer (HNPCC) is an autosomal dominant disorder characterized by the predisposition to develop a number of cancers, especially colorectal cancer (CRC). We present a HNPCC family with CRC at age 12 years. Our observations suggest that the germline mutation of the both copies of the MLH1 gene may play a role in the early onset of CRC.
引用
收藏
页码：837 / 839
页数：3
相关论文
共 50 条
  • [41] An intronic mutation in MLH1 associated with familial colon and breast cancer
    F. Bianchi
    M. Raponi
    F. Piva
    A. Viel
    I. Bearzi
    E. Galizia
    R. Bracci
    L. Belvederesi
    C. Loretelli
    C. Brugiati
    F. Corradini
    D. Baralle
    R. Cellerino
    Familial Cancer, 2011, 10 : 27 - 35
  • [42] A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants
    Rath, Abhijit
    Radecki, Alexander A.
    Rahman, Kaussar
    Gilmore, Rachel B.
    Hudson, Jonathan R.
    Cenci, Matthew
    Tavtigian, Sean V.
    Grady, James P.
    Heinen, Christopher D.
    HUMAN MUTATION, 2022, 43 (12) : 2295 - 2307
  • [43] DUAL REQUIREMENT IN YEAST DNA MISMATCH REPAIR FOR MLH1 AND PMS1, 2 HOMOLOGS OF THE BACTERIAL MUTL GENE
    PROLLA, TA
    CHRISTIE, DM
    LISKAY, RM
    MOLECULAR AND CELLULAR BIOLOGY, 1994, 14 (01) : 407 - 415
  • [44] Altered expression and new mutations in DNA mismatch repair genes MLH1 and MSH2 in melanoma brain metastases
    Korabiowska, M
    König, F
    Verheggen, R
    Schlott, T
    Cordon-Cardo, C
    Romeike, B
    Brinck, U
    ANTICANCER RESEARCH, 2004, 24 (2B) : 981 - 986
  • [45] DNA mismatch repair gene mutations in human cancer
    Peltomaki, P
    ENVIRONMENTAL HEALTH PERSPECTIVES, 1997, 105 : 775 - 780
  • [46] The human MLH1 cDNA complements DNA mismatch repair defects in Mlh1-deficient mouse embryonic fibroblasts
    Buermeyer, AB
    Wilson-Van Patten, C
    Baker, SM
    Liskay, M
    CANCER RESEARCH, 1999, 59 (03) : 538 - 541
  • [47] Mutations in MLH1 and MSH2 genes and impairment of the DNA repair pathway
    Thodi, G.
    Fostira, F.
    Sandaltzopoulos, R.
    Nasioulas, G.
    Yannoukakos, D.
    FEBS JOURNAL, 2008, 275 : 197 - 197
  • [48] The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair
    Langland, G
    Kordich, J
    Creaney, J
    Goss, KH
    Lillard-Wetherell, K
    Bebenek, K
    Kunkel, TA
    Groden, J
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (32) : 30031 - 30035
  • [49] Epigenetic Suppression of the Mismatch Repair Protein MLH1 By Hypoxia in Microsatellite Unstable Colon Cancer in Gia2-/- Mice
    Witherspoon, Mavee S.
    Wang, Kehui
    Lipkin, Steven M.
    Edwards, Robert A.
    GASTROENTEROLOGY, 2009, 136 (05) : A466 - A466
  • [50] Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer
    Moisio, AL
    Sistonen, P
    Weissenbach, J
    delaChapelle, A
    Peltomaki, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 59 (06) : 1243 - 1251
12345