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P Peterlongo, N Mitra, A Sanchez de Abajo, M de la Hoya, C Bassi, L Bertario, P Radice, E Glogowski, K Nafa, T Caldes, K Offit, NA Ellis (2006)Increased frequency of disease-causing MYH mutations in colon cancer families
SM Farrington, A Tenesa, R Barnetson, A Wiltshire, J Prendergast, M Porteous, H Campbell, MG Dunlop (2005)Germline susceptibility to colorectal cancer due to base-excision repair gene defects
Am J Hum Genet, 77
JN Poynter, SB Gruber, PD Higgins (2005)Statins and the risk of colorectal cancer
N Engl J Med, 352
A Tenesa, H Campbell, R Barnetson, M Porteous, M Dunlop, SM Farrington (2006)Association of MUTYH and colorectal cancer
Br J Cancer, 95
M Nielsen, NF Miranda, M Puijenbroek, ES Jordanova, A Middeldorp, T Wezel, R Eijk, CM Tops, HF Vasen, FJ Hes, H Morreau (2009)Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
BMC Cancer, 15
SJ Lubbe, MC Bernardo, IP Chandler, RS Houlston (2009)Clinical implications of the colorectal cancer risk associated with MUTYH mutation
J Clin Oncol, 27
JL Fleiss (1981)Statistical methods for rates and proportions
B Loon, U Hübscher (2009)An 8-oxo-guanine repair pathway coordinated by MUTYH glycosylase and DNA polymerase lambda
Proc Natl Acad Sci U S A, 106
E Theodoratou, H Campbell, A Tenesa, R Houlston, E Webb, S Lubbe, P Broderick, S Gallinger, EM Croitoru, MA Jenkins, AK Win, SP Cleary, T Koessler, PD Pharoah, S Küry, S Bézieau, B Buecher, NA Ellis, P Peterlongo, K Offit, LA Aaltonen, S Enholm, A Lindblom, XL Zhou, IP Tomlinson, V Moreno, I Blanco, G Capellà, R Barnetson, ME Porteous, MG Dunlop, SM Farrington (2010)A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
Br J Cancer, 103
M Miyaki, T Iijima, T Yamaguchi, T Hishima, K Tamura, J Utsunomiya, T Mori (2005)Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas
Mutat Res, 578
H Kim, HJ Kim, SG Chi, SK Lee, GR Joo, SH Dong, BH Kim, YW Chang, JI Lee, R Chang (2006)Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea
World J Gastroenterol, 12
M Morak, A Laner, U Bacher, C Keiling, E Holinski-Feder (2010)MUTYH-associated polyposis?variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations
Clin Genet, 78
V Gismondi, M Meta, L Bonelli, P Radice, P Sala, L Bertario, A Viel, M Fornasarig, A Arrigoni, M Gentile, M Ponz de Leon, L Anselmi, C Mareni, P Bruzzi, L Varesco (2004)Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas
Int J Cancer, 109
N Gómez-Fernández, S Castellví-Bel, C Fernández-Rozadilla, F Balaguer, J Muñoz, I Madrigal, M Milà, B Graña, A Vega, A Castells, A Carracedo, C Ruiz-Ponte (2009)Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
BMC Med Genet, 16
SP Cleary, M Cotterchio, MA Jenkins, H Kim, R Bristow, R Green, R Haile, JL Hopper, L LeMarchand, N Lindor, P Parfrey, J Potter, B Younghusband, S Gallinger (2009)Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study
M Nielsen, MC Joerink-van de Beld, N Jones, S Vogt, CM Tops, HF Vasen, JR Sampson, S Aretz, FJ Hes (2009)Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis
G Isidro, F Laranjeira, A Pires, J Leite, F Regateiro, F Castro e Sousa, J Soares, C Castro, J Giria, MJ Brito, A Medeira, R Teixeira, H Morna, I Gaspar, C Marinho, R Jorge, A Brehm, JS Ramos, MG Boavida (2004)Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas
Hum Mutat, 24
M Nielsen, LN Steenbergen, N Jones, S Vogt, HF Vasen, H Morreau, S Aretz, JR Sampson, OM Dekkers, ML Janssen-Heijnen, FJ Hes (2010)Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients
J Natl Cancer Inst, 102
WD Foulkes, I Thiffault, SB Gruber, M Horwitz, N Hamel, C Lee, J Shia, A Markowitz, A Figer, E Friedman, D Farber, CM Greenwood, JD Bonner, K Nafa, T Walsh, V Marcus, L Tomsho, J Gebert, FA Macrae, CL Gaff, BB Paillerets, PK Gregersen, JN Weitzel, PH Gordon, E MacNamara, MC King, H Hampel, A Chapelle, J Boyd, K Offit, G Rennert, G Chong, NA Ellis (2002)The founder mutation MSH2*1906G?>C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
Am J Hum Genet, 71
SJ Laken, GM Petersen, SB Gruber, C Oddoux, H Ostrer, FM Giardiello, SR Hamilton, H Hampel, A Markowitz, D Klimstra, S Jhanwar, S Winawer, K Offit, MC Luce, KW Kinzler, B Vogelstein (1997)Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
Nat Genet, 17
N Al-Tassan, NH Chmiel, J Maynard, N Fleming, AL Livingston, GT Williams, AK Hodges, DR Davies, SS David, JR Sampson, JP Cheadle (2002)Inherited variants of MYH associated with somatic G:C?>T:A mutations in colorectal tumors
Nat Genet, 30
D Buchanan, J Young (2009)A perspective on bi-allelic MUTYH mutations in patients with hyperplastic polyposis syndrome
MUTYH is associated with colorectal cancer (CRC) risk. We studied the frequency of MUTYH and risk of CRC in Arabs, North African and European Jews. Participants were all 593 Sephardi Moroccan Jews (232 cases, 361 controls) and all 631 Arabs (327 cases, 304 controls) recruited into a population-based study of colorectal cancer in Israel, as well as a random sample of 189 Ashkenazi Jewish cases. Two MUTYH mutations, G396D and Y179C, were studied in 1,413 individuals, with MUTYH sequence analysis in 46 cases with CRC in a sibling or adenoma. No carriers of mutations in MUTYH were identified in Ashkenazi Jews and only one in Arabs. In Sephardi Jews, 28 carriers of G396D, 25 (4.2%) heterozygotes and 3 (0.5%) homozygotes were identified. Four (0.7%) were heterozygote carriers of the Y179C mutation. Two compound heterozygous carriers of Y179C and G396D were identified. Homozygote carriers of G396D had nonsignificantly elevated risk of CRC (OR = 11.0, 95% CI: 0.91–213.9, p = 0.06), and combined bi-allelic carriers of G396D and Y179C had increased risk, OR = 17.4, 95% CI = (1.9–316.7, p = 0.009). Four of five bi-allelic carriers reported a family history of CRC. Sequencing of 46 colorectal cancer cases with family history and additional adenomas, did not identify any other non-founder mutations. MUTYH carriers of the two common founder mutations are profoundly under-represented among both Ashkenazi Jews and Arabs. The prevalence of MUTYH carriers of the common mutations is much higher in Sephardi Jews. Bi-allelic carriers of mutations in MUTYH, are associated with highly risk of colorectal cancer.
Familial Cancer – Springer Journals
Published: Feb 28, 2012
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