메뉴 건너뛰기




Volumn 17, Issue 10, 2015, Pages 815-821

Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing

Author keywords

familial adenomatous polyposis; genetic testing; MUTYH associated polyposis; phenotype; race

Indexed keywords

APC PROTEIN; DNA GLYCOSYLASE MUTY; DNA GLYCOSYLTRANSFERASE;

EID: 84938394693     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.199     Document Type: Article
Times cited : (19)

References (28)
  • 1
    • 84864506477 scopus 로고    scopus 로고
    • Prevalence and phenotypes of apc and mutyh mutations in patients with multiple colorectal adenomas
    • Grover S, Kastrinos F, Steyerberg EW, et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 2012; 308: 485-492
    • (2012) JAMA , vol.308 , pp. 485-492
    • Grover, S.1    Kastrinos, F.2    Steyerberg, E.W.3
  • 3
    • 33645244368 scopus 로고    scopus 로고
    • Prevalence of myh germline mutations in swiss apc mutation-negative polyposis patients
    • Russell AM, Zhang J, Luz J, et al. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer 2006; 118: 1937-1940
    • (2006) Int J Cancer , vol.118 , pp. 1937-1940
    • Russell, A.M.1    Zhang, J.2    Luz, J.3
  • 4
    • 24944500115 scopus 로고    scopus 로고
    • Adenomatous polyposis families that screen apc mutation-negative by conventional methods are genetically heterogeneous
    • Renkonen ET, Nieminen P, Abdel-Rahman WM, et al. Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous. J Clin Oncol 2005; 23: 5651-5659
    • (2005) J Clin Oncol , vol.23 , pp. 5651-5659
    • Renkonen, E.T.1    Nieminen, P.2    Abdel-Rahman, W.M.3
  • 5
    • 33644747476 scopus 로고    scopus 로고
    • Risk of colorectal cancer in monoallelic and biallelic carriers of myh mutations: A population-based casefamily study
    • Jenkins MA, Croitoru ME, Monga N, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based casefamily study. Cancer Epidemiol Biomarkers Prev 2006; 15: 312-314
    • (2006) Cancer Epidemiol Biomarkers Prev , vol.15 , pp. 312-314
    • Jenkins, M.A.1    Croitoru, M.E.2    Monga, N.3
  • 6
    • 33645454806 scopus 로고    scopus 로고
    • Mutations of apc and myh in unrelated Italian patients with adenomatous polyposis coli
    • Aceto G, Curia MC, Veschi S, et al. Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. Hum Mutat 2005; 26: 394
    • (2005) Hum Mutat , vol.26 , pp. 394
    • Aceto, G.1    Curia, M.C.2    Veschi, S.3
  • 7
    • 0041423452 scopus 로고    scopus 로고
    • Proportion and phenotype of myh-Associated colorectal neoplasia in a population-based series of finnish colorectal cancer patients
    • Enholm S, Hienonen T, Suomalainen A, et al. Proportion and phenotype of MYH-Associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol 2003; 163: 827-832
    • (2003) Am J Pathol , vol.163 , pp. 827-832
    • Enholm, S.1    Hienonen, T.2    Suomalainen, A.3
  • 8
    • 12144289614 scopus 로고    scopus 로고
    • Prevalence of the y165c, g382d and 1395delgga germline mutations of the myh gene in Italian patients with adenomatous polyposis coli and colorectal adenomas
    • Gismondi V, Meta M, Bonelli L, et al. 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 2004; 109: 680-684
    • (2004) Int J Cancer , vol.109 , pp. 680-684
    • Gismondi, V.1    Meta, M.2    Bonelli, L.3
  • 9
    • 16644377955 scopus 로고    scopus 로고
    • Germline mutyh (myh) mutations in Portuguese individuals with multiple colorectal adenomas
    • Isidro G, Laranjeira F, Pires A, et al. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat 2004; 24: 353-354
    • (2004) Hum Mutat , vol.24 , pp. 353-354
    • Isidro, G.1    Laranjeira, F.2    Pires, A.3
  • 10
    • 2342453955 scopus 로고    scopus 로고
    • Molecular analysis of the apc and myh genes in czech families affected by fap or multiple adenomas: 13 novel mutations
    • Vandrovcová J, Stekrová J, Kebrdlová V, Kohoutová M. Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. Hum Mutat 2004; 23: 397
    • (2004) Hum Mutat , vol.23 , pp. 397
    • Vandrovcová, J.1    Stekrová, J.2    Kebrdlová, V.3    Kohoutová, M.4
  • 11
    • 79958793703 scopus 로고    scopus 로고
    • Lynch syndrome and myh-Associated polyposis: Review and testing strategy
    • Goodenberger M, Lindor NM. Lynch syndrome and MYH-Associated polyposis: review and testing strategy. J Clin Gastroenterol 2011; 45: 488-500
    • (2011) J Clin Gastroenterol , vol.45 , pp. 488-500
    • Goodenberger, M.1    Lindor, N.M.2
  • 12
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of myh
    • Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39-41
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, J.R.1    Dolwani, S.2    Jones, S.3
  • 13
    • 34147217174 scopus 로고    scopus 로고
    • Analysis of inherited myh/(mutyh) mutations in british asian patients with colorectal cancer
    • Dolwani S, Williams GT, West KP, et al. Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer. Gut 2007; 56: 593
    • (2007) Gut , vol.56 , pp. 593
    • Dolwani, S.1    Williams, G.T.2    West, K.P.3
  • 14
    • 3843152626 scopus 로고    scopus 로고
    • The complex genotype-phenotype relationship in familial adenomatous polyposis
    • Järvinen HJ, Peltomäki P. The complex genotype-phenotype relationship in familial adenomatous polyposis. Eur J Gastroenterol Hepatol 2004; 16: 5-8
    • (2004) Eur J Gastroenterol Hepatol , vol.16 , pp. 5-8
    • Järvinen, H.J.1    Peltomäki, P.2
  • 15
    • 0028271193 scopus 로고
    • Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical apc gene mutation
    • Giardiello FM, Krush AJ, Petersen GM, et al. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology 1994; 106: 1542-1547
    • (1994) Gastroenterology , vol.106 , pp. 1542-1547
    • Giardiello, F.M.1    Krush, A.J.2    Petersen, G.M.3
  • 16
    • 33846074011 scopus 로고    scopus 로고
    • Correlations between mutation site in apc and phenotype of familial adenomatous polyposis (fap): A review of the literature
    • Nieuwenhuis MH, Vasen HF. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. Crit Rev Oncol Hematol 2007; 61: 153-161
    • (2007) Crit Rev Oncol Hematol , vol.61 , pp. 153-161
    • Nieuwenhuis, M.H.1    Vasen, H.F.2
  • 17
    • 21544476494 scopus 로고    scopus 로고
    • Frequency of codon 1061 and codon 1309 apc mutations in australian familial adenomatous polyposis patients
    • Schnitzler M, Koorey D, Dwight T, et al. Frequency of codon 1061 and codon 1309 APC mutations in Australian familial adenomatous polyposis patients. Hum Mutat 1998(suppl 1): S56-S57
    • (1998) Hum Mutat , pp. S56-S57
    • Schnitzler, M.1    Koorey, D.2    Dwight, T.3
  • 18
    • 19044395448 scopus 로고    scopus 로고
    • Molecular analysis of the apc gene in 71 israeli families: 17 novel mutations
    • Gavert N, Yaron Y, Naiman T, et al. Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. Hum Mutat 2002; 19: 664
    • (2002) Hum Mutat , vol.19 , pp. 664
    • Gavert, N.1    Yaron, Y.2    Naiman, T.3
  • 19
    • 0033999318 scopus 로고    scopus 로고
    • Apc mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients
    • Cao X, Eu KW, Seow-Choen F, Zao Y, Cheah PY. APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. Eur J Hum Genet 2000; 8: 42-48
    • (2000) Eur J Hum Genet , vol.8 , pp. 42-48
    • Cao, X.1    Eu, K.W.2    Seow-Choen, F.3    Zao, Y.4    Cheah, P.Y.5
  • 20
    • 79951851848 scopus 로고    scopus 로고
    • Mutation analysis of the apc gene in unrelated Korean patients with fap: Four novel mutations with unusual phenotype
    • Han SH, Ryu JS, Kim YJ, Cho HI, Yang YH, Lee KR. Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. Fam Cancer 2011; 10: 21-26
    • (2011) Fam Cancer , vol.10 , pp. 21-26
    • Han, S.H.1    Ryu, J.S.2    Kim, Y.J.3    Cho, H.I.4    Yang, Y.H.5    Lee, K.R.6
  • 22
    • 48849115241 scopus 로고    scopus 로고
    • Differential use of available genetic tests among primary care physicians in the United States: Results of a national survey
    • Shields AE, Burke W, Levy DE. Differential use of available genetic tests among primary care physicians in the United States: results of a national survey. Genet Med 2008; 10: 404-414
    • (2008) Genet Med , vol.10 , pp. 404-414
    • Shields, A.E.1    Burke, W.2    Levy, D.E.3
  • 23
    • 16444381731 scopus 로고    scopus 로고
    • Racial differences in the use of brca1/2 testing among women with a family history of breast or ovarian cancer
    • Armstrong K, Micco E, Carney A, Stopfer J, Putt M. Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA 2005; 293: 1729-1736
    • (2005) JAMA , vol.293 , pp. 1729-1736
    • Armstrong, K.1    Micco, E.2    Carney, A.3    Stopfer, J.4    Putt, M.5
  • 24
    • 2442650599 scopus 로고    scopus 로고
    • The association between race and attitudes about predictive genetic testing
    • Peters N, Rose A, Armstrong K. The association between race and attitudes about predictive genetic testing. Cancer Epidemiol Biomarkers Prev 2004; 13: 361-365
    • (2004) Cancer Epidemiol Biomarkers Prev , vol.13 , pp. 361-365
    • Peters, N.1    Rose, A.2    Armstrong, K.3
  • 25
    • 36448935697 scopus 로고    scopus 로고
    • Awareness and attitudes regarding prenatal testing among Texas women of childbearing age
    • Case AP, Ramadhani TA, Canfield MA, Wicklund CA. Awareness and attitudes regarding prenatal testing among Texas women of childbearing age. J Genet Couns 2007; 16: 655-661
    • (2007) J Genet Couns , vol.16 , pp. 655-661
    • Case, A.P.1    Ramadhani, T.A.2    Canfield, M.A.3    Wicklund, C.A.4
  • 26
    • 70349653916 scopus 로고    scopus 로고
    • Barriers to the use of genetic testing: A study of racial and ethnic disparities
    • Suther S, Kiros GE. Barriers to the use of genetic testing: a study of racial and ethnic disparities. Genet Med 2009; 11: 655-662
    • (2009) Genet Med , vol.11 , pp. 655-662
    • Suther, S.1    Kiros, G.E.2
  • 27
    • 84872071989 scopus 로고    scopus 로고
    • Comparison of the clinical prediction model premm(1 2, 6) and molecular testing for the systematic identification of lynch syndrome in colorectal cancer
    • Colon Cancer Family Registry
    • Kastrinos F, Steyerberg EW, Balmaña J, et al.; Colon Cancer Family Registry. Comparison of the clinical prediction model PREMM(1, 2, 6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer. Gut 2013; 62: 272-279
    • (2013) Gut , vol.62 , pp. 272-279
    • Kastrinos, F.1    Steyerberg, E.W.2    Balmaña, J.3
  • 28
    • 78650513224 scopus 로고    scopus 로고
    • The premm(1 2, 6) model predicts risk of mlh1, msh2, and msh6 germline mutations based on cancer history
    • Kastrinos F, Steyerberg EW, Mercado R, et al. The PREMM(1, 2, 6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 2011; 140: 73-81
    • (2011) Gastroenterology , vol.140 , pp. 73-81
    • Kastrinos, F.1    Steyerberg, E.W.2    Mercado, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.