Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer

被引:0
|
作者
Mahdi Montazer Haghighi
Ramin Radpour
Katayoun Aghajani
Narges Zali
Mahsa Molaei
Mohammad Reza Zali
机构
[1] Taleghani Hospital,Research Center for Gastroenterology and Liver Diseases
[2] Shaheed Beheshti Medical University,Laboratory for Prenatal Medicine and Gynecologic Oncology, Women’s Hospital/Department of Biomedicine
[3] University of Basel,undefined
关键词
HNPCC; Mismatch repair; MMR; Microsatellite instability; MLH1; PMS2;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer
    Haghighi, Mahdi Montazer
    Radpour, Ramin
    Aghajani, Katayoun
    Zali, Narges
    Molaei, Mahsa
    Zali, Mohammad Reza
    [J]. INTERNATIONAL JOURNAL OF COLORECTAL DISEASE, 2009, 24 (08) : 885 - 893
  • [2] MLH1 and PMS2 protein expression in 103 colorectal carcinomas with MLH1 promoter methylation and without MLH1 or PMS2 germline mutation
    Mahooti, S
    Hampel, H
    LaJeunesse, J
    Sotamaa, K
    de la Chapelle, A
    Frankel, WL
    [J]. MODERN PATHOLOGY, 2006, 19 : 113A - 113A
  • [3] MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer
    Hitchins, M
    Williams, R
    Cheong, K
    Halani, N
    Lin, VA
    Packham, D
    Ku, S
    Buckle, A
    Hawkins, N
    Burn, J
    Gallinger, S
    Goldblatt, J
    Kirk, J
    Tomlinson, I
    Scott, R
    Spigelman, A
    Suter, C
    Martin, D
    Suthers, G
    Ward, R
    [J]. GASTROENTEROLOGY, 2005, 129 (05) : 1392 - 1399
  • [4] Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary Nonpolyposis colorectal cancer (HNPCC)
    van der Klift, H
    Wijnen, J
    Wagner, A
    Verkuilen, P
    Tops, C
    Otway, R
    Kohonen-Corish, M
    Vasen, H
    Oliani, C
    Barana, D
    Moller, P
    DeLozier-Blanchet, C
    Hutter, P
    Foulkes, W
    Lynch, H
    Burn, J
    Möslein, G
    Fodde, R
    [J]. GENES CHROMOSOMES & CANCER, 2005, 44 (02): : 123 - 138
  • [5] Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia
    Zavodna, K.
    Bujalkova, M.
    Krivulcik, T.
    Alemayehu, A.
    Skorvaga, M.
    Marra, G.
    Fridrichova, I.
    Jiricny, J.
    Bartosova, Z.
    [J]. NEOPLASMA, 2006, 53 (04) : 269 - 276
  • [6] Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer
    Rey, JM
    Noruzinia, M
    Brouillet, JP
    Sarda, P
    Maudelonde, T
    Pujol, P
    [J]. CANCER GENETICS AND CYTOGENETICS, 2004, 155 (02) : 149 - 151
  • [7] Saccharomyces cerevisiae pms2 mutations are alleles of MLH1, and pms2-2 corresponds to a hereditary nonpolyposis colorectal carcinoma-causing missense mutation
    Jeyaprakash, A
    DasGupta, R
    Kolodner, R
    [J]. MOLECULAR AND CELLULAR BIOLOGY, 1996, 16 (06) : 3008 - 3011
  • [8] MLH1 and PMS2 protein expression in 103 colorectal carcinomas with MLH1 promoter methylation and without MLH1 or PMS2Germline mutation
    Mahooti, S
    Hampel, H
    LaJeunesse, J
    Sotamaa, K
    de la Chapelle, A
    Frankel, WL
    [J]. LABORATORY INVESTIGATION, 2006, 86 : 113A - 113A
  • [9] Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort
    Rosty, Christophe
    Clendenning, Mark
    Walsh, Michael D.
    Eriksen, Stine V.
    Southey, Melissa C.
    Winship, Ingrid M.
    Macrae, Finlay A.
    Boussioutas, Alex
    Poplawski, Nicola K.
    Parry, Susan
    Arnold, Julie
    Young, Joanne P.
    Casey, Graham
    Haile, Robert W.
    Gallinger, Steven
    Le Marchand, Loic
    Newcomb, Polly A.
    Potter, John D.
    DeRycke, Melissa
    Lindor, Noralane M.
    Thibodeau, Stephen N.
    Baron, John A.
    Win, Aung Ko
    Hopper, John L.
    Jenkins, Mark A.
    Buchanan, Daniel D.
    [J]. BMJ OPEN, 2016, 6 (02):
  • [10] Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain
    Caldes, T
    Godino, J
    de la Hoya, M
    Carbonero, IG
    Segura, PP
    Eng, C
    Benito, M
    Diaz-Rubio, E
    [J]. INTERNATIONAL JOURNAL OF CANCER, 2002, 98 (05) : 774 - 779