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Volumn 35, Issue 10, 2017, Pages 1086-1095

Cancer susceptibility gene mutations in individuals with colorectal cancer

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 2A; DNA GLYCOSYLASE MUTY; PROTEIN P53; APC PROTEIN, HUMAN; CHECKPOINT KINASE 2; CHEK2 PROTEIN, HUMAN; DNA BINDING PROTEIN; DNA GLYCOSYLTRANSFERASE; EPCAM PROTEIN, HUMAN; EPITHELIAL CELL ADHESION MOLECULE; G-T MISMATCH-BINDING PROTEIN; MISMATCH REPAIR PROTEIN PMS2; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; MUTL PROTEIN HOMOLOG 1; NUCLEAR PROTEIN; PALB2 PROTEIN, HUMAN; PMS2 PROTEIN, HUMAN; PROTEIN MSH2; TUMOR SUPPRESSOR PROTEIN;

EID: 85016626649     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2016.71.0012     Document Type: Article
Times cited : (366)

References (44)
  • 1
    • 84883873822 scopus 로고    scopus 로고
    • Populationbased molecular screening for Lynch syndrome: Implications for personalized medicine
    • Ward RL, Hicks S, Hawkins NJ: Populationbased molecular screening for Lynch syndrome: Implications for personalized medicine. J Clin Oncol 31:2554-2562, 2013
    • (2013) J Clin Oncol , vol.31 , pp. 2554-2562
    • Ward, R.L.1    Hicks, S.2    Hawkins, N.J.3
  • 2
    • 84867499525 scopus 로고    scopus 로고
    • Identification of Lynch syndrome among patients with colorectal cancer
    • Moreira L, Balaguer F, Lindor N, et al: Identification of Lynch syndrome among patients with colorectal cancer. JAMA 308:1555-1565, 2012
    • (2012) JAMA , vol.308 , pp. 1555-1565
    • Moreira, L.1    Balaguer, F.2    Lindor, N.3
  • 3
    • 84962617859 scopus 로고    scopus 로고
    • Comparison of prediction models for lynch syndrome among individuals with colorectal cancer
    • Kastrinos F, Ojha RP, Leenen C, et al: Comparison of prediction models for lynch syndrome among individuals with colorectal cancer. J Natl Cancer Inst 108:djv308, 2015
    • (2015) J Natl Cancer Inst , vol.108 , pp. djv308
    • Kastrinos, F.1    Ojha, R.P.2    Leenen, C.3
  • 4
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • Hampel H, Frankel WL, Martin E, et al: Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26: 5783-5788, 2008
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 5
    • 17944362664 scopus 로고    scopus 로고
    • Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    • Hampel H, Frankel WL, Martin E, et al: Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352: 1851-1860, 2005
    • (2005) N Engl J Med , vol.352 , pp. 1851-1860
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 6
    • 77957201274 scopus 로고    scopus 로고
    • The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease
    • Woods MO, Younghusband HB, Parfrey PS, et al: The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. Gut 59:1369-1377, 2010
    • (2010) Gut , vol.59 , pp. 1369-1377
    • Woods, M.O.1    Younghusband, H.B.2    Parfrey, P.S.3
  • 7
    • 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 308:485-492, 2012
    • (2012) JAMA , vol.308 , pp. 485-492
    • Grover, S.1    Kastrinos, F.2    Steyerberg, E.W.3
  • 8
    • 69849112388 scopus 로고    scopus 로고
    • Clinical implications of the colorectal cancer risk associated with MUTYH mutation
    • Lubbe SJ, Di Bernardo MC, Chandler IP, et al: Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 27: 3975-3980, 2009
    • (2009) J Clin Oncol , vol.27 , pp. 3975-3980
    • Lubbe, S.J.1    Di Bernardo, M.C.2    Chandler, I.P.3
  • 9
    • 0037797281 scopus 로고    scopus 로고
    • Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis
    • Bertario L, Russo A, Sala P, et al: Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 21:1698-1707, 2003
    • (2003) J Clin Oncol , vol.21 , pp. 1698-1707
    • Bertario, L.1    Russo, A.2    Sala, P.3
  • 10
    • 62949228316 scopus 로고    scopus 로고
    • Germline MutY human homologue mutations and colorectal cancer: A multisite case-control study
    • Cleary SP, Cotterchio M, Jenkins MA, et al: Germline MutY human homologue mutations and colorectal cancer: A multisite case-control study. Gastroenterology 136:1251-1260, 2009
    • (2009) Gastroenterology , vol.136 , pp. 1251-1260
    • Cleary, S.P.1    Cotterchio, M.2    Ma, J.3
  • 11
    • 84886789083 scopus 로고    scopus 로고
    • The APC p. I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews
    • Boursi B, Sella T, Liberman E, et al: The APC p. I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. Eur J Cancer 49:3680-3685, 2013
    • (2013) Eur J Cancer , vol.49 , pp. 3680-3685
    • Boursi, B.1    Sella, T.2    Liberman, E.3
  • 12
    • 84899413123 scopus 로고    scopus 로고
    • Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
    • Win AK, Dowty JG, Cleary SP, et al: Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 146:1208-1211.e5, 2014
    • (2014) Gastroenterology , vol.146 , pp. 1208-1211e5
    • Win, A.K.1    Dowty, J.G.2    Cleary, S.P.3
  • 13
    • 84939839583 scopus 로고    scopus 로고
    • Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome
    • Yurgelun MB, Allen B, Kaldate RR, et al: Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome. Gastroenterology 149:604-613. e20, 2015
    • (2015) Gastroenterology , vol.149 , pp. 604-613
    • Yurgelun, M.B.1    Allen, B.2    Kaldate, R.R.3
  • 14
    • 84892913739 scopus 로고    scopus 로고
    • Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: Results from a follow-up study
    • Phelan CM, Iqbal J, Lynch HT, et al: Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: Results from a follow-up study. Br J Cancer 110:530-534, 2014
    • (2014) Br J Cancer , vol.110 , pp. 530-534
    • Phelan, C.M.1    Iqbal, J.2    Lynch, H.T.3
  • 15
    • 84965051096 scopus 로고    scopus 로고
    • Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer
    • Tung N, Lin NU, Kidd J, et al: Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 34:1460-1468, 2016
    • (2016) J Clin Oncol , vol.34 , pp. 1460-1468
    • Tung, N.1    Lin, N.U.2    Kidd, J.3
  • 16
    • 84895779653 scopus 로고    scopus 로고
    • Characteristics of mutyh-associated polyposis in patients with multiple adenomatous and serrated polyps P
    • Guarinos C, Ju arez M, Egoavil C, et al: Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. Clin Cancer Res 20:1158-1168, 2014
    • (2014) Clin Cancer Res , vol.20 , pp. 1158-1168
    • Guarinos, C.1    Arez, J.2    Egoavil C, M.3
  • 18
    • 84926610163 scopus 로고    scopus 로고
    • Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
    • Judkins T, Leclair B, Bowles K, et al: Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk. BMC Cancer 15:215, 2015
    • (2015) BMC Cancer , vol.15 , pp. 215
    • Judkins, T.1    Leclair, B.2    Bowles, K.3
  • 19
    • 84904701595 scopus 로고    scopus 로고
    • Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US Multi-Society Task Force on Colorectal Cancer
    • Giardiello FM, Allen JI, Axilbund JE, et al: Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology 147:502-526, 2014
    • (2014) Gastroenterology , vol.147 , pp. 502-526
    • Giardiello, F.M.1    Allen, J.I.2    Axilbund, J.E.3
  • 20
    • 84964252246 scopus 로고    scopus 로고
    • ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes
    • ; quiz 263
    • Syngal S, Brand RE, Church JM, et al: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110:223-262, 2015; quiz 263
    • (2015) Am J Gastroenterol , vol.110 , pp. 223-262
    • Syngal, S.1    Brand, R.E.2    Church, J.M.3
  • 21
    • 84964751263 scopus 로고    scopus 로고
    • NCCN Clinical Practice Guidelines in Oncology: Genetic/familial high-risk assessment: Colorectal
    • NCCN Clinical Practice Guidelines in Oncology: Genetic/familial high-risk assessment: Colorectal. Version 2, 2016. http://www.nccn.org/professionals/physician-gls/pdf/genetics-colon.pdf
    • Version , vol.2 , pp. 2016
  • 22
    • 85016588442 scopus 로고    scopus 로고
    • NCCN Clinical Practice Guidelines in Oncology: Genetic/familial high-risk assessment: Breast and ovarian
    • NCCN Clinical Practice Guidelines in Oncology: Genetic/familial high-risk assessment: Breast and ovarian. Version 1, 2017. http://www.nccn.org/professionals/physician-gls/pdf/genetics-screening. pdf
    • (2017) Version , vol.1
  • 23
    • 84908145253 scopus 로고    scopus 로고
    • Breast-cancer risk in families with mutations in PALB2
    • Antoniou AC, Casadei S, Heikkinen T, et al: Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371:497-506, 2014
    • (2014) N Engl J Med , vol.371 , pp. 497-506
    • Antoniou, A.C.1    Casadei, S.2    Heikkinen, T.3
  • 24
    • 80053022230 scopus 로고    scopus 로고
    • Li-Fraumeni syndrome
    • Malkin D: Li-Fraumeni syndrome. Genes Cancer 2:475-484, 2011
    • (2011) Genes Cancer , vol.2 , pp. 475-484
    • Malkin, D.1
  • 25
    • 0037134702 scopus 로고    scopus 로고
    • Geographical variation in the penetrance of CDKN2A mutations for melanoma
    • Bishop DT, Demenais F, Goldstein AM, et al: Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 94: 894-903, 2002
    • (2002) J Natl Cancer Inst , vol.94 , pp. 894-903
    • Bishop, D.T.1    Demenais, F.2    Goldstein, A.M.3
  • 26
    • 84930531402 scopus 로고    scopus 로고
    • Gene-panel sequencing and the prediction of breastcancer risk
    • Easton DF, Pharoah PD, Antoniou AC, et al: Gene-panel sequencing and the prediction of breastcancer risk. N Engl J Med 372:2243-2257, 2015
    • (2015) N Engl J Med , vol.372 , pp. 2243-2257
    • Easton, D.F.1    Pharoah, P.D.2    Antoniou, A.C.3
  • 27
    • 84952641661 scopus 로고    scopus 로고
    • Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer
    • Ramus SJ, Song H, Dicks E, et al: Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer. J Natl Cancer Inst 107:djv214, 2015
    • (2015) J Natl Cancer Inst , vol.107 , pp. djv214
    • Ramus, S.J.1    Song, H.2    Dicks, E.3
  • 28
    • 84947279527 scopus 로고    scopus 로고
    • American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility
    • Robson ME, Bradbury AR, Arun B, et al: American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol 33:3660-3667, 2015
    • (2015) J Clin Oncol , vol.33 , pp. 3660-3667
    • Robson, M.E.1    Bradbury, A.R.2    Arun, B.3
  • 29
    • 12144274336 scopus 로고    scopus 로고
    • Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: Public health implications
    • McClain MR, Palomaki GE, Nathanson KL, et al: Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: Public health implications. Genet Med 7: 28-33, 2005
    • (2005) Genet Med , vol.7 , pp. 28-33
    • McClain, M.R.1    Palomaki, G.E.2    Nathanson, K.L.3
  • 30
    • 84995916502 scopus 로고    scopus 로고
    • Population frequency of germline BRCA1/2 mutations
    • Maxwell KN, Domchek SM, Nathanson KL, et al: Population frequency of germline BRCA1/2 mutations. J Clin Oncol 34:4183-4185, 2016
    • (2016) J Clin Oncol , vol.34 , pp. 4183-4185
    • Maxwell, K.N.1    Domchek, S.M.2    Nathanson, K.L.3
  • 31
    • 0842302522 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer
    • Niell BL, Rennert G, Bonner JD, et al: BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer. J Natl Cancer Inst 96:15-21, 2004
    • (2004) J Natl Cancer Inst , vol.96 , pp. 15-21
    • Niell, B.L.1    Rennert, G.2    Bonner, J.D.3
  • 32
    • 10744225854 scopus 로고    scopus 로고
    • Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer
    • Kirchhoff T, Satagopan JM, Kauff ND, et al: Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. J Natl Cancer Inst 96:68-70, 2004
    • (2004) J Natl Cancer Inst , vol.96 , pp. 68-70
    • Kirchhoff, T.1    Satagopan, J.M.2    Kauff, N.D.3
  • 33
    • 34447335843 scopus 로고    scopus 로고
    • Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations
    • Kadouri L, Hubert A, Rotenberg Y, et al: Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations. J Med Genet 44:467-471, 2007
    • (2007) J Med Genet , vol.44 , pp. 467-471
    • Kadouri, L.1    Hubert, A.2    Rotenberg, Y.3
  • 34
    • 78650214445 scopus 로고    scopus 로고
    • BRCA1 mutations and colorectal cancer in Poland
    • Suchy J, Cybulski C, Gorski B, et al: BRCA1 mutations and colorectal cancer in Poland. Fam Cancer 9:541-544, 2010
    • (2010) Fam Cancer , vol.9 , pp. 541-544
    • Suchy, J.1    Cybulski, C.2    Gorski, B.3
  • 35
    • 84928765929 scopus 로고    scopus 로고
    • BRCA2 gene: A candidate for clinical testing in familial colorectal cancer type X
    • Garre P, Martin L, Sanz J, et al: BRCA2 gene: A candidate for clinical testing in familial colorectal cancer type X. Clin Genet 87:582-587, 2015
    • (2015) Clin Genet , vol.87 , pp. 582-587
    • Garre, P.1    Martin, L.2    Sanz, J.3
  • 36
    • 84983249377 scopus 로고    scopus 로고
    • Counselling framework for moderate-penetrance cancer-susceptibility mutations
    • Tung N, Domchek SM, Stadler Z, et al: Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol 13:581-588, 2016
    • (2016) Nat Rev Clin Oncol , vol.13 , pp. 581-588
    • Tung, N.1    Domchek, S.M.2    Stadler, Z.3
  • 37
    • 84899637126 scopus 로고    scopus 로고
    • Quality of cancer family history and referral for genetic counseling and testing among oncology practices: A pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative
    • Wood ME, Kadlubek P, Pham TH, et al: Quality of cancer family history and referral for genetic counseling and testing among oncology practices: A pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. J Clin Oncol 32:824-829, 2014
    • (2014) J Clin Oncol , vol.32 , pp. 824-829
    • Wood, M.E.1    Kadlubek, P.2    Pham, T.H.3
  • 38
    • 4444328981 scopus 로고    scopus 로고
    • Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients
    • Grover S, Stoffel EM, Bussone L, et al: Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2:813-819, 2004
    • (2004) Clin Gastroenterol Hepatol , vol.2 , pp. 813-819
    • Grover, S.1    Stoffel, E.M.2    Bussone, L.3
  • 39
    • 84937143656 scopus 로고    scopus 로고
    • Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: A cost-effectiveness analysis
    • Gallego CJ, Shirts BH, Bennette CS, et al: Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: A cost-effectiveness analysis. J Clin Oncol 33: 2084-2091, 2015
    • (2015) J Clin Oncol , vol.33 , pp. 2084-2091
    • Gallego, C.J.1    Shirts, B.H.2    Bennette, C.S.3
  • 40
    • 84932628341 scopus 로고    scopus 로고
    • PD-1 blockade in tumors with mismatch-repair deficiency
    • Le DT, Uram JN, Wang H, et al: PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 372:2509-2520, 2015
    • (2015) N Engl J Med , vol.372 , pp. 2509-2520
    • Le, D.T.1    Uram, J.N.2    Wang, H.3
  • 41
    • 84946019429 scopus 로고    scopus 로고
    • DNArepair defects and olaparib in metastatic prostate cancer
    • Mateo J, Carreira S, Sandhu S, et al: DNArepair defects and olaparib in metastatic prostate cancer. N Engl J Med 373:1697-1708, 2015
    • (2015) N Engl J Med , vol.373 , pp. 1697-1708
    • Mateo, J.1    Carreira, S.2    Sandhu, S.3
  • 42
    • 84921771510 scopus 로고    scopus 로고
    • Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation
    • Kaufman B, Shapira-Frommer R, Schmutzler RK, et al: Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol 33:244-250, 2015
    • (2015) J Clin Oncol , vol.33 , pp. 244-250
    • Kaufman, B.1    Shapira-Frommer, R.2    Schmutzler, R.K.3
  • 43
    • 84960366127 scopus 로고    scopus 로고
    • Reply to percentage of colorectal cancer diagnoses in adults aged younger than 50 years
    • Abdelsattar ZM, Wong SL, Regenbogen SE, et al: Reply to percentage of colorectal cancer diagnoses in adults aged younger than 50 years. Cancer 122:1463-1464, 2016
    • (2016) Cancer , vol.122 , pp. 1463-1464
    • Abdelsattar, Z.M.1    Wong, S.L.2    Regenbogen, S.E.3
  • 44
    • 84975744773 scopus 로고    scopus 로고
    • Screening for colorectal cancer: US Preventive Services Task Force recommendation statement
    • Bibbins-Domingo K, Grossman DC, Curry SJ, et al: Screening for colorectal cancer: US Preventive Services Task Force recommendation statement. JAMA 315:2564-2575, 2016
    • (2016) JAMA , vol.315 , pp. 2564-2575
    • Bibbins-Domingo, K.1    Grossman, D.C.2    Curry, S.J.3


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