메뉴 건너뛰기




Volumn 149, Issue 3, 2015, Pages 604e20-613.e20

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients with Suspected Lynch Syndrome

Author keywords

Colon Cancer Genetics; Hereditary Nonpolyposis Colorectal Cancer; HNPCC; Inherited Cancer

Indexed keywords

APC PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; DNA GLYCOSYLASE MUTY; PROTEIN KINASE LKB1; TUMOR MARKER;

EID: 84939839583     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2015.05.006     Document Type: Article
Times cited : (215)

References (98)
  • 1
    • 59849129653 scopus 로고    scopus 로고
    • EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
    • G.E. Palomaki, M.R. McClain, S. Melillo, and et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome Genet Med 11 2009 42 65
    • (2009) Genet Med , vol.11 , pp. 42-65
    • Palomaki, G.E.1    McClain, M.R.2    Melillo, S.3
  • 2
    • 84876900933 scopus 로고    scopus 로고
    • Revised guidelines for the clinical management of Lynch syndrome (HNPCC): Recommendations by a group of European experts
    • H.F. Vasen, I. Blanco, K. Aktan-Collan, and et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts Gut 62 2013 812 823
    • (2013) Gut , vol.62 , pp. 812-823
    • Vasen, H.F.1    Blanco, I.2    Aktan-Collan, K.3
  • 3
    • 84894268890 scopus 로고    scopus 로고
    • Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: A systematic review to update the U.S. Preventive Services Task Force recommendation
    • H.D. Nelson, M. Pappas, B. Zakher, and et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation Ann Intern Med 160 2014 255 266
    • (2014) Ann Intern Med , vol.160 , pp. 255-266
    • Nelson, H.D.1    Pappas, M.2    Zakher, B.3
  • 4
    • 0034011564 scopus 로고    scopus 로고
    • Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
    • H.J. Jarvinen, M. Aarnio, H. Mustonen, and et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer Gastroenterology 118 2000 829 834
    • (2000) Gastroenterology , vol.118 , pp. 829-834
    • Jarvinen, H.J.1    Aarnio, M.2    Mustonen, H.3
  • 5
    • 84860605783 scopus 로고    scopus 로고
    • Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: A prospective cohort study
    • A.K. Win, J.P. Young, N.M. Lindor, and et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study J Clin Oncol 30 2012 958 964
    • (2012) J Clin Oncol , vol.30 , pp. 958-964
    • Win, A.K.1    Young, J.P.2    Lindor, N.M.3
  • 6
    • 70350733425 scopus 로고    scopus 로고
    • Risk of pancreatic cancer in families with Lynch syndrome
    • F. Kastrinos, B. Mukherjee, N. Tayob, and et al. Risk of pancreatic cancer in families with Lynch syndrome JAMA 302 2009 1790 1795
    • (2009) JAMA , vol.302 , pp. 1790-1795
    • Kastrinos, F.1    Mukherjee, B.2    Tayob, N.3
  • 7
    • 84876071726 scopus 로고    scopus 로고
    • Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net?
    • S.M. Domchek, A. Bradbury, J.E. Garber, and et al. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 31 2013 1267 1270
    • (2013) J Clin Oncol , vol.31 , pp. 1267-1270
    • Domchek, S.M.1    Bradbury, A.2    Garber, J.E.3
  • 8
    • 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
    • F. Kastrinos, E.W. Steyerberg, J. Balmana, and et al. Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer Gut 62 2013 272 279
    • (2013) Gut , vol.62 , pp. 272-279
    • Kastrinos, F.1    Steyerberg, E.W.2    Balmana, J.3
  • 9
    • 79955009383 scopus 로고    scopus 로고
    • Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk
    • D.E. Levy, S.D. Byfield, C.B. Comstock, and et al. Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk Genet Med 13 2011 349 355
    • (2011) Genet Med , vol.13 , pp. 349-355
    • Levy, D.E.1    Byfield, S.D.2    Comstock, C.B.3
  • 10
    • 20244386256 scopus 로고    scopus 로고
    • Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X
    • N.M. Lindor, K. Rabe, G.M. Petersen, and et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X JAMA 293 2005 1979 1985
    • (2005) JAMA , vol.293 , pp. 1979-1985
    • Lindor, N.M.1    Rabe, K.2    Petersen, G.M.3
  • 11
    • 51849147419 scopus 로고    scopus 로고
    • Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
    • J. Balmana, F. Balaguer, S. Castellvi-Bel, and et al. Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients J Med Genet 45 2008 557 563
    • (2008) J Med Genet , vol.45 , pp. 557-563
    • Balmana, J.1    Balaguer, F.2    Castellvi-Bel, S.3
  • 12
    • 78650513224 scopus 로고    scopus 로고
    • The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history
    • F. Kastrinos, E.W. Steyerberg, R. Mercado, and et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history Gastroenterology 140 2011 73 81
    • (2011) Gastroenterology , vol.140 , pp. 73-81
    • Kastrinos, F.1    Steyerberg, E.W.2    Mercado, R.3
  • 13
    • 84908553713 scopus 로고    scopus 로고
    • Biallelic MUTYH mutations can mimic Lynch syndrome
    • M. Morak, B. Heidenreich, G. Keller, and et al. Biallelic MUTYH mutations can mimic Lynch syndrome Eur J Hum Genet 22 2014 1334 1337
    • (2014) Eur J Hum Genet , vol.22 , pp. 1334-1337
    • Morak, M.1    Heidenreich, B.2    Keller, G.3
  • 14
    • 84886057665 scopus 로고    scopus 로고
    • PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: Would use of risk assessment tools reduce genetic testing?
    • J.L. Mester, R.A. Moore, and C. Eng PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing? Oncologist 18 2013 1083 1090
    • (2013) Oncologist , vol.18 , pp. 1083-1090
    • Mester, J.L.1    Moore, R.A.2    Eng, C.3
  • 15
    • 79952183867 scopus 로고    scopus 로고
    • Genetic counseling considerations in the evaluation of families for Lynch syndrome - A review
    • S.M. Weissman, C. Bellcross, C.C. Bittner, and et al. Genetic counseling considerations in the evaluation of families for Lynch syndrome-a review J Genet Couns 20 2011 5 19
    • (2011) J Genet Couns , vol.20 , pp. 5-19
    • Weissman, S.M.1    Bellcross, C.2    Bittner, C.C.3
  • 16
    • 84905126480 scopus 로고    scopus 로고
    • Prevalence of germline MUTYH mutations among Lynch-like syndrome patients
    • A. Castillejo, G. Vargas, M.I. Castillejo, and et al. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients Eur J Cancer 50 2014 2241 2250
    • (2014) Eur J Cancer , vol.50 , pp. 2241-2250
    • Castillejo, A.1    Vargas, G.2    Castillejo, M.I.3
  • 17
  • 18
    • 65649112508 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer
    • M.J. Hall, J.E. Reid, L.A. Burbidge, and et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer Cancer 115 2009 2222 2233
    • (2009) Cancer , vol.115 , pp. 2222-2233
    • Hall, M.J.1    Reid, J.E.2    Burbidge, L.A.3
  • 19
    • 84907597238 scopus 로고    scopus 로고
    • A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
    • J.M. Eggington, K.R. Bowles, K. Moyes, and et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes Clin Genet 86 2014 229 237
    • (2014) Clin Genet , vol.86 , pp. 229-237
    • Eggington, J.M.1    Bowles, K.R.2    Moyes, K.3
  • 20
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • C.S. Richards, S. Bale, D.B. Bellissimo, and et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007 Genet Med 10 2008 294 300
    • (2008) Genet Med , vol.10 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3
  • 21
    • 33746491583 scopus 로고    scopus 로고
    • ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    • A. Renwick, D. Thompson, S. Seal, and et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles Nat Genet 38 2006 873 875
    • (2006) Nat Genet , vol.38 , pp. 873-875
    • Renwick, A.1    Thompson, D.2    Seal, S.3
  • 22
    • 84902544333 scopus 로고    scopus 로고
    • Familial colorectal cancer, beyond Lynch syndrome
    • E.M. Stoffel, and F. Kastrinos Familial colorectal cancer, beyond Lynch syndrome Clin Gastroenterol Hepatol 12 2014 1059 1068
    • (2014) Clin Gastroenterol Hepatol , vol.12 , pp. 1059-1068
    • Stoffel, E.M.1    Kastrinos, F.2
  • 23
    • 84864607654 scopus 로고    scopus 로고
    • Genetic testing by cancer site: Stomach
    • N. Chun, and J.M. Ford Genetic testing by cancer site: stomach Cancer J 18 2012 355 363
    • (2012) Cancer J , vol.18 , pp. 355-363
    • Chun, N.1    Ford, J.M.2
  • 24
    • 84864143250 scopus 로고    scopus 로고
    • Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers
    • B. Mukherjee, J.O. Delancey, L. Raskin, and et al. Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers J Natl Cancer Inst 104 2012 953 956
    • (2012) J Natl Cancer Inst , vol.104 , pp. 953-956
    • Mukherjee, B.1    Delancey, J.O.2    Raskin, L.3
  • 25
    • 77956309446 scopus 로고    scopus 로고
    • Genome-wide association studies of cancer
    • Z.K. Stadler, P. Thom, M.E. Robson, and et al. Genome-wide association studies of cancer J Clin Oncol 28 2010 4255 4267
    • (2010) J Clin Oncol , vol.28 , pp. 4255-4267
    • Stadler, Z.K.1    Thom, P.2    Robson, M.E.3
  • 26
    • 84859606763 scopus 로고    scopus 로고
    • Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis?
    • M.H. Nieuwenhuis, S. Vogt, N. Jones, and et al. Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis? Gut 61 2012 734 738
    • (2012) Gut , vol.61 , pp. 734-738
    • Nieuwenhuis, M.H.1    Vogt, S.2    Jones, N.3
  • 27
    • 84899413123 scopus 로고    scopus 로고
    • Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
    • e1-e5
    • A.K. Win, J.G. Dowty, S.P. Cleary, and et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer Gastroenterology 146 2014 1208 1211 e1-e5
    • (2014) Gastroenterology , vol.146 , pp. 1208-1211
    • Win, A.K.1    Dowty, J.G.2    Cleary, S.P.3
  • 28
    • 84859250601 scopus 로고    scopus 로고
    • MUTYH hotspot mutations in unselected colonoscopy patients
    • M. Casper, G. Plotz, B. Juengling, and et al. MUTYH hotspot mutations in unselected colonoscopy patients Colorectal Dis 14 2012 e238 e244
    • (2012) Colorectal Dis , vol.14 , pp. e238-e244
    • Casper, M.1    Plotz, G.2    Juengling, B.3
  • 29
    • 69849112388 scopus 로고    scopus 로고
    • Clinical implications of the colorectal cancer risk associated with MUTYH mutation
    • S.J. Lubbe, M.C. Di Bernardo, I.P. Chandler, and et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation J Clin Oncol 27 2009 3975 3980
    • (2009) J Clin Oncol , vol.27 , pp. 3975-3980
    • Lubbe, S.J.1    Di Bernardo, M.C.2    Chandler, I.P.3
  • 30
    • 80052266917 scopus 로고    scopus 로고
    • Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
    • A.K. Win, S.P. Cleary, J.G. Dowty, and et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer Int J Cancer 129 2011 2256 2262
    • (2011) Int J Cancer , vol.129 , pp. 2256-2262
    • Win, A.K.1    Cleary, S.P.2    Dowty, J.G.3
  • 31
    • 7944225535 scopus 로고    scopus 로고
    • Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
    • M.E. Croitoru, S.P. Cleary, N. Di Nicola, and et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk J Natl Cancer Inst 96 2004 1631 1634
    • (2004) J Natl Cancer Inst , vol.96 , pp. 1631-1634
    • Croitoru, M.E.1    Cleary, S.P.2    Di Nicola, N.3
  • 32
    • 67650979375 scopus 로고    scopus 로고
    • Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH
    • 494 e1; quiz 725-726
    • N. Jones, S. Vogt, M. Nielsen, and et al. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH Gastroenterology 137 2009 489 494 494 e1; quiz 725-726
    • (2009) Gastroenterology , vol.137 , pp. 489-494
    • Jones, N.1    Vogt, S.2    Nielsen, M.3
  • 33
    • 33947280508 scopus 로고    scopus 로고
    • Identification of MYH mutation carriers in colorectal cancer: A multicenter, case-control, population-based study
    • F. Balaguer, S. Castellvi-Bel, A. Castells, and et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study Clin Gastroenterol Hepatol 5 2007 379 387
    • (2007) Clin Gastroenterol Hepatol , vol.5 , pp. 379-387
    • Balaguer, F.1    Castellvi-Bel, S.2    Castells, A.3
  • 34
    • 14044276307 scopus 로고    scopus 로고
    • Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH
    • P. Peterlongo, N. Mitra, S. Chuai, and et al. Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH Int J Cancer 114 2005 505 507
    • (2005) Int J Cancer , vol.114 , pp. 505-507
    • Peterlongo, P.1    Mitra, N.2    Chuai, S.3
  • 35
    • 84905822972 scopus 로고    scopus 로고
    • Multigene panel testing: Planning the next generation of research studies in clinical cancer genetics
    • M. Robson Multigene panel testing: planning the next generation of research studies in clinical cancer genetics J Clin Oncol 32 2014 1987 1989
    • (2014) J Clin Oncol , vol.32 , pp. 1987-1989
    • Robson, M.1
  • 36
    • 84939251973 scopus 로고    scopus 로고
    • Panel-based testing for inherited colorectal cancer: A descriptive study of clinical testing performed by a US laboratory
    • D. Cragun, C. Radford, J.S. Dolinsky, and et al. Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory Clin Genet 86 2014 510 520
    • (2014) Clin Genet , vol.86 , pp. 510-520
    • Cragun, D.1    Radford, C.2    Dolinsky, J.S.3
  • 37
    • 81055126264 scopus 로고    scopus 로고
    • Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
    • T. Walsh, S. Casadei, M.K. Lee, and et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Proc Natl Acad Sci U S A 108 2011 18032 18037
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 18032-18037
    • Walsh, T.1    Casadei, S.2    Lee, M.K.3
  • 38
    • 84904750123 scopus 로고    scopus 로고
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment
    • A.W. Kurian, E.E. Hare, M.A. Mills, and et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment J Clin Oncol 32 2014 2001 2009
    • (2014) J Clin Oncol , vol.32 , pp. 2001-2009
    • Kurian, A.W.1    Hare, E.E.2    Mills, M.A.3
  • 39
    • 84918798338 scopus 로고    scopus 로고
    • Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel
    • N. Tung, C. Battelli, B. Allen, and et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel Cancer 121 2015 25 33
    • (2015) Cancer , vol.121 , pp. 25-33
    • Tung, N.1    Battelli, C.2    Allen, B.3
  • 40
    • 0030910022 scopus 로고    scopus 로고
    • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
    • J.P. Struewing, P. Hartge, S. Wacholder, and et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews N Engl J Med 336 1997 1401 1408
    • (1997) N Engl J Med , vol.336 , pp. 1401-1408
    • Struewing, J.P.1    Hartge, P.2    Wacholder, S.3
  • 41
    • 75749096049 scopus 로고    scopus 로고
    • Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women
    • K.A. Metcalfe, A. Poll, R. Royer, and et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women J Clin Oncol 28 2010 387 391
    • (2010) J Clin Oncol , vol.28 , pp. 387-391
    • Metcalfe, K.A.1    Poll, A.2    Royer, R.3
  • 42
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    • B.B. Roa, A.A. Boyd, K. Volcik, and et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 Nat Genet 14 1996 185 187
    • (1996) Nat Genet , vol.14 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Volcik, K.3
  • 43
    • 12144274336 scopus 로고    scopus 로고
    • Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: Public health implications
    • M.R. McClain, G.E. Palomaki, K.L. Nathanson, and et al. Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications Genet Med 7 2005 28 33
    • (2005) Genet Med , vol.7 , pp. 28-33
    • McClain, M.R.1    Palomaki, G.E.2    Nathanson, K.L.3
  • 44
    • 0842302523 scopus 로고    scopus 로고
    • One less thing to worry about: The shrinking spectrum of tumors in BRCA founder mutation carriers
    • J.E. Garber, and S. Syngal One less thing to worry about: the shrinking spectrum of tumors in BRCA founder mutation carriers J Natl Cancer Inst 96 2004 2 3
    • (2004) J Natl Cancer Inst , vol.96 , pp. 2-3
    • Garber, J.E.1    Syngal, S.2
  • 45
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC
    • H.F. Vasen, P. Watson, J.P. Mecklin, and et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC Gastroenterology 116 1999 1453 1456
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3
  • 46
    • 77956110372 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer: Updated consensus guidelines for clinical management and directions for future research
    • R.C. Fitzgerald, R. Hardwick, D. Huntsman, and et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research J Med Genet 47 2010 436 444
    • (2010) J Med Genet , vol.47 , pp. 436-444
    • Fitzgerald, R.C.1    Hardwick, R.2    Huntsman, D.3
  • 47
  • 48
    • 84937143656 scopus 로고    scopus 로고
    • Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: A cost-effectiveness analysis
    • C.J. Gallego, B.H. Shirts, C.S. Bennette, and et al. Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis J Clin Oncol 33 2015 2084 2091
    • (2015) J Clin Oncol , vol.33 , pp. 2084-2091
    • Gallego, C.J.1    Shirts, B.H.2    Bennette, C.S.3
  • 49
    • 84883873822 scopus 로고    scopus 로고
    • Population-based molecular screening for Lynch syndrome: Implications for personalized medicine
    • R.L. Ward, S. Hicks, and N.J. Hawkins Population-based molecular screening for Lynch syndrome: implications for personalized medicine J Clin Oncol 31 2013 2554 2562
    • (2013) J Clin Oncol , vol.31 , pp. 2554-2562
    • Ward, R.L.1    Hicks, S.2    Hawkins, N.J.3
  • 50
    • 84919326756 scopus 로고    scopus 로고
    • Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through
    • D. Cragun, R.D. DeBate, S.T. Vadaparampil, and et al. Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through Genet Med 16 2014 773 782
    • (2014) Genet Med , vol.16 , pp. 773-782
    • Cragun, D.1    DeBate, R.D.2    Vadaparampil, S.T.3
  • 51
    • 84862530392 scopus 로고    scopus 로고
    • Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results
    • L.C. Beamer, M.L. Grant, C.R. Espenschied, and et al. Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results J Clin Oncol 30 2012 1058 1063
    • (2012) J Clin Oncol , vol.30 , pp. 1058-1063
    • Beamer, L.C.1    Grant, M.L.2    Espenschied, C.R.3
  • 52
    • 84867499525 scopus 로고    scopus 로고
    • Identification of Lynch syndrome among patients with colorectal cancer
    • L. Moreira, F. Balaguer, N. Lindor, and et al. Identification of Lynch syndrome among patients with colorectal cancer JAMA 308 2012 1555 1565
    • (2012) JAMA , vol.308 , pp. 1555-1565
    • Moreira, L.1    Balaguer, F.2    Lindor, N.3
  • 53
    • 84860555035 scopus 로고    scopus 로고
    • Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
    • L. Perez-Carbonell, C. Ruiz-Ponte, C. Guarinos, and et al. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer Gut 61 2012 865 872
    • (2012) Gut , vol.61 , pp. 865-872
    • Perez-Carbonell, L.1    Ruiz-Ponte, C.2    Guarinos, C.3
  • 54
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • H. Hampel, W.L. Frankel, E. Martin, and et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer J Clin Oncol 26 2008 5783 5788
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 57
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 58
    • 84907597238 scopus 로고    scopus 로고
    • A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
    • J.M. Eggington, K.R. Bowles, K. Moyes, and et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes Clin Genet 86 2014 229 237
    • (2014) Clin Genet , vol.86 , pp. 229-237
    • Eggington, J.M.1    Bowles, K.R.2    Moyes, K.3
  • 59
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • C.S. Richards, S. Bale, D.B. Bellissimo, and et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007 Genet Med 10 2008 294 300
    • (2008) Genet Med , vol.10 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3
  • 60
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G: C - >t: A mutations in colorectal tumors
    • N. Al-Tassan, N.H. Chmiel, J. Maynard, and et al. Inherited variants of MYH associated with somatic G: C - >T: A mutations in colorectal tumors Nat Genet 30 2002 227 232
    • (2002) Nat Genet , vol.30 , pp. 227-232
    • Al-Tassan, N.1    Chmiel, N.H.2    Maynard, J.3
  • 61
    • 0036848267 scopus 로고    scopus 로고
    • Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G: C - >t: A mutations
    • S. Jones, P. Emmerson, J. Maynard, and et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G: C - >T: A mutations Hum Mol Genet 11 2002 2961 2967
    • (2002) Hum Mol Genet , vol.11 , pp. 2961-2967
    • Jones, S.1    Emmerson, P.2    Maynard, J.3
  • 63
    • 34248572591 scopus 로고    scopus 로고
    • Structure of the human MutSalpha DNA lesion recognition complex
    • J.J. Warren, T.J. Pohlhaus, A. Changela, and et al. Structure of the human MutSalpha DNA lesion recognition complex Mol Cell 26 2007 579 592
    • (2007) Mol Cell , vol.26 , pp. 579-592
    • Warren, J.J.1    Pohlhaus, T.J.2    Changela, A.3
  • 64
    • 55549137442 scopus 로고    scopus 로고
    • Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
    • D.E. Goldgar, D.F. Easton, G.B. Byrnes, and et al. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model Hum Mutat 29 2008 1265 1272
    • (2008) Hum Mutat , vol.29 , pp. 1265-1272
    • Goldgar, D.E.1    Easton, D.F.2    Byrnes, G.B.3
  • 65
    • 35348834779 scopus 로고    scopus 로고
    • A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    • D.F. Easton, A.M. Deffenbaugh, D. Pruss, and et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes Am J Hum Genet 81 2007 873 883
    • (2007) Am J Hum Genet , vol.81 , pp. 873-883
    • Easton, D.F.1    Deffenbaugh, A.M.2    Pruss, D.3
  • 66
    • 19144365420 scopus 로고    scopus 로고
    • Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16
    • J. Wijnen, P.M. Khan, H. Vasen, and et al. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16 Am J Hum Genet 58 1996 300 307
    • (1996) Am J Hum Genet , vol.58 , pp. 300-307
    • Wijnen, J.1    Khan, P.M.2    Vasen, H.3
  • 67
    • 33644546026 scopus 로고    scopus 로고
    • Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants
    • C. Pagenstecher, M. Wehner, W. Friedl, and et al. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants Hum Genet 119 2006 9 22
    • (2006) Hum Genet , vol.119 , pp. 9-22
    • Pagenstecher, C.1    Wehner, M.2    Friedl, W.3
  • 68
    • 0041664997 scopus 로고    scopus 로고
    • Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein
    • T.E. Raevaara, C. Vaccaro, W.M. Abdel-Rahman, and et al. Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein Gastroenterology 125 2003 501 509
    • (2003) Gastroenterology , vol.125 , pp. 501-509
    • Raevaara, T.E.1    Vaccaro, C.2    Abdel-Rahman, W.M.3
  • 69
    • 0028106776 scopus 로고
    • HMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds
    • B. Liu, R.E. Parsons, S.R. Hamilton, and et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds Cancer Res 54 1994 4590 4594
    • (1994) Cancer Res , vol.54 , pp. 4590-4594
    • Liu, B.1    Parsons, R.E.2    Hamilton, S.R.3
  • 70
    • 33645454806 scopus 로고    scopus 로고
    • Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli
    • G. Aceto, M.C. Curia, S. Veschi, and et al. Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli Hum Mutat 26 2005 394
    • (2005) Hum Mutat , vol.26 , pp. 394
    • Aceto, G.1    Curia, M.C.2    Veschi, S.3
  • 71
    • 33645244368 scopus 로고    scopus 로고
    • Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients
    • A.M. Russell, J. Zhang, J. Luz, and et al. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients Int J Cancer 118 2006 1937 1940
    • (2006) Int J Cancer , vol.118 , pp. 1937-1940
    • Russell, A.M.1    Zhang, J.2    Luz, J.3
  • 72
    • 32544453369 scopus 로고    scopus 로고
    • Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing
    • J. Auclair, M.P. Busine, C. Navarro, and et al. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing Hum Mutat 27 2006 145 154
    • (2006) Hum Mutat , vol.27 , pp. 145-154
    • Auclair, J.1    Busine, M.P.2    Navarro, C.3
  • 73
    • 13844251880 scopus 로고    scopus 로고
    • Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
    • G. Casey, N.M. Lindor, N. Papadopoulos, and et al. Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer JAMA 293 2005 799 809
    • (2005) JAMA , vol.293 , pp. 799-809
    • Casey, G.1    Lindor, N.M.2    Papadopoulos, N.3
  • 74
    • 0037028740 scopus 로고    scopus 로고
    • Dominant negative ATM mutations in breast cancer families
    • G. Chenevix-Trench, A.B. Spurdle, M. Gatei, and et al. Dominant negative ATM mutations in breast cancer families J Natl Cancer Inst 94 2002 205 215
    • (2002) J Natl Cancer Inst , vol.94 , pp. 205-215
    • Chenevix-Trench, G.1    Spurdle, A.B.2    Gatei, M.3
  • 75
    • 33750904243 scopus 로고    scopus 로고
    • Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry
    • J.L. Bernstein, S. Teraoka, M.C. Southey, and et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry Hum Mutat 27 2006 1122 1128
    • (2006) Hum Mutat , vol.27 , pp. 1122-1128
    • Bernstein, J.L.1    Teraoka, S.2    Southey, M.C.3
  • 76
    • 0030187780 scopus 로고    scopus 로고
    • BRCA1 protein products functional motifs
    • E.V. Koonin, S.F. Altschul, and P. Bork BRCA1 protein products. functional motifs Nat Genet 13 1996 266 268
    • (1996) Nat Genet , vol.13 , pp. 266-268
    • Koonin, E.V.1    Altschul, S.F.2    Bork, P.3
  • 77
    • 0034734384 scopus 로고    scopus 로고
    • The BRCA1 C-terminal domain: Structure and function
    • T. Huyton, P.A. Bates, X. Zhang, and et al. The BRCA1 C-terminal domain: structure and function Mutat Res 460 2000 319 332
    • (2000) Mutat Res , vol.460 , pp. 319-332
    • Huyton, T.1    Bates, P.A.2    Zhang, X.3
  • 78
    • 2542543477 scopus 로고    scopus 로고
    • Structure-based assessment of missense mutations in human BRCA1: Implications for breast and ovarian cancer predisposition
    • N. Mirkovic, M.A. Marti-Renom, B.L. Weber, and et al. Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition Cancer Res 64 2004 3790 3797
    • (2004) Cancer Res , vol.64 , pp. 3790-3797
    • Mirkovic, N.1    Marti-Renom, M.A.2    Weber, B.L.3
  • 79
    • 0036103113 scopus 로고    scopus 로고
    • Genetic and clinical characterisation of familial adenomatous polyposis: A population based study
    • A.L. Moisio, H. Jarvinen, and P. Peltomaki Genetic and clinical characterisation of familial adenomatous polyposis: a population based study Gut 50 2002 845 850
    • (2002) Gut , vol.50 , pp. 845-850
    • Moisio, A.L.1    Jarvinen, H.2    Peltomaki, P.3
  • 80
    • 3142748325 scopus 로고    scopus 로고
    • Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
    • H. Nakagawa, J.C. Lockman, W.L. Frankel, and et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation Cancer Res 64 2004 4721 4727
    • (2004) Cancer Res , vol.64 , pp. 4721-4727
    • Nakagawa, H.1    Lockman, J.C.2    Frankel, W.L.3
  • 81
    • 34548732241 scopus 로고    scopus 로고
    • Novel biallelic mutations in MSH6 and PMS2 genes: Gene conversion as a likely cause of PMS2 gene inactivation
    • J. Auclair, D. Leroux, F. Desseigne, and et al. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation Hum Mutat 28 2007 1084 1090
    • (2007) Hum Mutat , vol.28 , pp. 1084-1090
    • Auclair, J.1    Leroux, D.2    Desseigne, F.3
  • 82
    • 48549099663 scopus 로고    scopus 로고
    • The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    • L. Senter, M. Clendenning, K. Sotamaa, and et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations Gastroenterology 135 2008 419 428
    • (2008) Gastroenterology , vol.135 , pp. 419-428
    • Senter, L.1    Clendenning, M.2    Sotamaa, K.3
  • 83
    • 77951826608 scopus 로고    scopus 로고
    • Clinical analysis of PMS2: Mutation detection and avoidance of pseudogenes
    • C.P. Vaughn, J. Robles, J.J. Swensen, and et al. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes Hum Mutat 31 2010 588 593
    • (2010) Hum Mutat , vol.31 , pp. 588-593
    • Vaughn, C.P.1    Robles, J.2    Swensen, J.J.3
  • 84
    • 79953709371 scopus 로고    scopus 로고
    • Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
    • J.C. Herkert, R.C. Niessen, M.J. Olderode-Berends, and et al. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines Eur J Cancer 47 2011 965 982
    • (2011) Eur J Cancer , vol.47 , pp. 965-982
    • Herkert, J.C.1    Niessen, R.C.2    Olderode-Berends, M.J.3
  • 85
    • 23244452266 scopus 로고    scopus 로고
    • Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
    • T.E. Raevaara, M.K. Korhonen, H. Lohi, and et al. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1 Gastroenterology 129 2005 537 549
    • (2005) Gastroenterology , vol.129 , pp. 537-549
    • Raevaara, T.E.1    Korhonen, M.K.2    Lohi, H.3
  • 86
    • 33749483796 scopus 로고    scopus 로고
    • A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene
    • M.F. Blasi, I. Ventura, G. Aquilina, and et al. A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene Cancer Res 66 2006 9036 9044
    • (2006) Cancer Res , vol.66 , pp. 9036-9044
    • Blasi, M.F.1    Ventura, I.2    Aquilina, G.3
  • 87
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    • J.R. Sampson, S. Dolwani, S. Jones, and et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH Lancet 362 2003 39 41
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, J.R.1    Dolwani, S.2    Jones, S.3
  • 88
    • 47149097787 scopus 로고    scopus 로고
    • A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
    • I. Tournier, M. Vezain, A. Martins, and et al. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects Hum Mutat 29 2008 1412 1424
    • (2008) Hum Mutat , vol.29 , pp. 1412-1424
    • Tournier, I.1    Vezain, M.2    Martins, A.3
  • 89
    • 34547181906 scopus 로고    scopus 로고
    • Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome
    • N. Rahner, N. Friedrichs, M. Wehner, and et al. Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome Acta Oncol 46 2007 763 769
    • (2007) Acta Oncol , vol.46 , pp. 763-769
    • Rahner, N.1    Friedrichs, N.2    Wehner, M.3
  • 90
    • 0036143918 scopus 로고    scopus 로고
    • Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system
    • J. Trojan, S. Zeuzem, A. Randolph, and et al. Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system Gastroenterology 122 2002 211 219
    • (2002) Gastroenterology , vol.122 , pp. 211-219
    • Trojan, J.1    Zeuzem, S.2    Randolph, A.3
  • 91
    • 0032862677 scopus 로고    scopus 로고
    • A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: Implications for clinical screening
    • Z.Q. Yuan, N. Wong, W.D. Foulkes, and et al. A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening J Med Genet 36 1999 790 793
    • (1999) J Med Genet , vol.36 , pp. 790-793
    • Yuan, Z.Q.1    Wong, N.2    Foulkes, W.D.3
  • 92
    • 0036917758 scopus 로고    scopus 로고
    • The founder mutation MSH2∗1906G - >c is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
    • W.D. Foulkes, I. Thiffault, S.B. Gruber, and et al. 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 2002 1395 1412
    • (2002) Am J Hum Genet , vol.71 , pp. 1395-1412
    • Foulkes, W.D.1    Thiffault, I.2    Gruber, S.B.3
  • 93
    • 2542490186 scopus 로고    scopus 로고
    • Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1
    • R.S. Williams, M.S. Lee, D.D. Hau, and et al. Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1 Nat Struct Mol Biol 11 2004 519 525
    • (2004) Nat Struct Mol Biol , vol.11 , pp. 519-525
    • Williams, R.S.1    Lee, M.S.2    Hau, D.D.3
  • 94
    • 40349087210 scopus 로고    scopus 로고
    • Identification of BRCA1 missense substitutions that confer partial functional activity: Potential moderate risk variants?
    • P.K. Lovelock, A.B. Spurdle, M.T. Mok, and et al. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res 9 2007 R82
    • (2007) Breast Cancer Res , vol.9 , pp. R82
    • Lovelock, P.K.1    Spurdle, A.B.2    Mok, M.T.3
  • 95
    • 80053962624 scopus 로고    scopus 로고
    • Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155
    • S. Chang, R.H. Wang, K. Akagi, and et al. Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155 Nat Med 17 2011 1275 1282
    • (2011) Nat Med , vol.17 , pp. 1275-1282
    • Chang, S.1    Wang, R.H.2    Akagi, K.3
  • 96
    • 68249158091 scopus 로고    scopus 로고
    • A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
    • L. Mohammadi, M.P. Vreeswijk, R. Oldenburg, and et al. A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example BMC Cancer 9 2009 211
    • (2009) BMC Cancer , vol.9 , pp. 211
    • Mohammadi, L.1    Vreeswijk, M.P.2    Oldenburg, R.3
  • 97
    • 0034900181 scopus 로고    scopus 로고
    • Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons
    • E. Ricevuto, H. Sobol, D. Stoppa-Lyonnet, and et al. Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons Clin Cancer Res 7 2001 1638 1646
    • (2001) Clin Cancer Res , vol.7 , pp. 1638-1646
    • Ricevuto, E.1    Sobol, H.2    Stoppa-Lyonnet, D.3
  • 98
    • 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
    • T. Judkins, B. Leclair, K. Bowles, and 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 2015 215
    • (2015) BMC Cancer , vol.15 , pp. 215
    • Judkins, T.1    Leclair, B.2    Bowles, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.