메뉴 건너뛰기




Volumn 33, Issue 4, 2015, Pages 319-325

Lynch syndrome caused by germline PMS2 mutations: Delineating the cancer risk

(26)  Ten Broeke, Sanne W a,q   Brohet, Richard M c   Tops, Carli M a   Van Der Klift, Heleen M a   Velthuizen, Mary E d   Bernstein, Inge k,l   Munar, Gabriel Capellá m   Garcia, Encarna Gomez e   Hoogerbrugge, Nicoline f   Letteboer, Tom G W d   Menko, Fred H g   Lindblom, Annika n   Mensenkamp, Arjen R f   Moller, Pal o   Van Os, Theo A h   Rahner, Nils p   Redeker, Bert J W h   Sijmons, Rolf H i   Spruijt, Liesbeth f   Suerink, Manon a   more..


Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; ADENOSINE TRIPHOSPHATASE; DNA BINDING PROTEIN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE;

EID: 84921896169     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2014.57.8088     Document Type: Conference Paper
Times cited : (164)

References (39)
  • 1
    • 84880923087 scopus 로고    scopus 로고
    • Cancer risk in Lynch syndrome
    • Barrow E, Hill J, Evans DG: Cancer risk in Lynch syndrome. Fam Cancer 12:229-240, 2013
    • (2013) Fam Cancer , vol.12 , pp. 229-240
    • Barrow, E.1    Hill, J.2    Evans, D.G.3
  • 2
    • 23244443650 scopus 로고    scopus 로고
    • Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: Later age of onset
    • Hampel H, Stephens JA, Pukkala E, et al: Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: Later age of onset. Gastroenterology 129:415-421, 2005
    • (2005) Gastroenterology , vol.129 , pp. 415-421
    • Hampel, H.1    Stephens, J.A.2    Pukkala, E.3
  • 3
    • 70350090521 scopus 로고    scopus 로고
    • Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome
    • Stoffel E, Mukherjee B, Raymond VM, et al: Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 137:1621-1627, 2009
    • (2009) Gastroenterology , vol.137 , pp. 1621-1627
    • Stoffel, E.1    Mukherjee, B.2    Raymond, V.M.3
  • 4
    • 84873942317 scopus 로고    scopus 로고
    • Cancer risks for MLH1 and MSH2 mutation carriers
    • Dowty JG, Win AK, Buchanan DD, et al: Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat 34:490-497, 2013
    • (2013) Hum Mutat , vol.34 , pp. 490-497
    • Dowty, J.G.1    Win, A.K.2    Buchanan, D.D.3
  • 5
    • 76349108011 scopus 로고    scopus 로고
    • Risks of Lynch syndrome cancers for MSH6 mutation carriers
    • Baglietto L, Lindor NM, Dowty JG, et al: Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 102:193-201, 2010
    • (2010) J Natl Cancer Inst , vol.102 , pp. 193-201
    • Baglietto, L.1    Lindor, N.M.2    Dowty, J.G.3
  • 6
    • 0027933070 scopus 로고
    • Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
    • Nicolaides NC, Papadopoulos N, Liu B, et al: Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80, 1994
    • (1994) Nature , vol.371 , pp. 75-80
    • Nicolaides, N.C.1    Papadopoulos, N.2    Liu, B.3
  • 7
    • 33646372203 scopus 로고    scopus 로고
    • Long-range PCR facilitates the identification of PMS2-specific mutations
    • Clendenning M, Hampel H, LaJeunesse J, et al: Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 27:490-495, 2006
    • (2006) Hum Mutat , vol.27 , pp. 490-495
    • Clendenning, M.1    Hampel, H.2    LaJeunesse, J.3
  • 8
    • 77951826608 scopus 로고    scopus 로고
    • Clinical analysis of PMS2: Mutation detection and avoidance of pseudogenes
    • Vaughn CP, Robles J, Swensen JJ, et al: Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Hum Mutat 31:588-593, 2010
    • (2010) Hum Mutat , vol.31 , pp. 588-593
    • Vaughn, C.P.1    Robles, J.2    Swensen, J.J.3
  • 9
    • 77951835414 scopus 로고    scopus 로고
    • Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients
    • van der Klift HM, Tops CM, Bik EC, et al: Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. Hum Mutat 31:578-587, 2010
    • (2010) Hum Mutat , vol.31 , pp. 578-587
    • Van Der Klift, H.M.1    Tops, C.M.2    Bik, E.C.3
  • 10
    • 19044363122 scopus 로고    scopus 로고
    • Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer
    • Worthley DL, Walsh MD, Barker M, et al: Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. Gastroenterology 128:1431-1436, 2005
    • (2005) Gastroenterology , vol.128 , pp. 1431-1436
    • Worthley, D.L.1    Walsh, M.D.2    Barker, M.3
  • 11
    • 33746794561 scopus 로고    scopus 로고
    • Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): A guide for clinicians
    • Hendriks YM, de Jong AE, Morreau H, et al: Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): A guide for clinicians. CA Cancer J Clin 56:213-225, 2006
    • (2006) CA Cancer J Clin , vol.56 , pp. 213-225
    • Hendriks, Y.M.1    De Jong, A.E.2    Morreau, H.3
  • 12
    • 48549099663 scopus 로고    scopus 로고
    • The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    • Senter L, Clendenning M, Sotamaa K, et al: The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135: 419-428, 2008
    • (2008) Gastroenterology , vol.135 , pp. 419-428
    • Senter, L.1    Clendenning, M.2    Sotamaa, K.3
  • 13
    • 79958071334 scopus 로고    scopus 로고
    • Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome
    • Bonadona V, Bonaiti B, Olschwang S, et al: Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 305:2304-2310, 2011
    • (2011) JAMA , vol.305 , pp. 2304-2310
    • Bonadona, V.1    Bonaiti, B.2    Olschwang, S.3
  • 14
    • 79961126297 scopus 로고    scopus 로고
    • Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations
    • Johannesma PC, van der Klift HM, van Grieken NC, et al: Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. Clin Genet 80:243-255, 2011
    • (2011) Clin Genet , vol.80 , pp. 243-255
    • Johannesma, P.C.1    Van Der Klift, H.M.2    Van Grieken, N.C.3
  • 15
    • 21044440847 scopus 로고    scopus 로고
    • Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer
    • Truninger K, Menigatti M, Luz J, et al: Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology 128:1160-1171, 2005
    • (2005) Gastroenterology , vol.128 , pp. 1160-1171
    • Truninger, K.1    Menigatti, M.2    Luz, J.3
  • 16
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A, Boland CR, Terdiman JP, et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261-268, 2004
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 17
    • 84896717941 scopus 로고    scopus 로고
    • Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium
    • Bakry D, Aronson M, Durno C, et al: Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium. Eur J Cancer 50:987-996, 2014
    • (2014) Eur J Cancer , vol.50 , pp. 987-996
    • Bakry, D.1    Aronson, M.2    Durno, C.3
  • 18
    • 79953709371 scopus 로고    scopus 로고
    • Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
    • Herkert JC, Niessen RC, Olderode-Berends MJ, et al: Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines. Eur J Cancer 47:965-982, 2011
    • (2011) Eur J Cancer , vol.47 , pp. 965-982
    • Herkert, J.C.1    Niessen, R.C.2    Olderode-Berends, M.J.3
  • 19
    • 84901470161 scopus 로고    scopus 로고
    • Diagnostic criteria for constitutional mismatch repair deficiency syndrome: Suggestions of the european consortium "Care for CMMRD" (C4CMMRD)
    • Wimmer K, Kratz CP, Vasen HF, et al: Diagnostic criteria for constitutional mismatch repair deficiency syndrome: Suggestions of the European consortium "Care for CMMRD" (C4CMMRD). J Med Genet 51:355-365, 2014
    • (2014) J Med Genet , vol.51 , pp. 355-365
    • Wimmer, K.1    Kratz, C.P.2    Vasen, H.F.3
  • 20
    • 84883192504 scopus 로고    scopus 로고
    • Refining the role of PMS2 in Lynch syndrome: Germline mutational analysis improved by comprehensive assessment of variants
    • Borrá s E, Pineda M, Cadiñanos J, et al: Refining the role of PMS2 in Lynch syndrome: Germline mutational analysis improved by comprehensive assessment of variants. J Med Genet 50:552-563, 2013
    • (2013) J Med Genet , vol.50 , pp. 552-563
    • Borrás, E.1    Pineda, M.2    Cadiñanos, J.3
  • 21
    • 84894064693 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations
    • Brohet RM, Velthuizen ME, Hogervorst FB, et al: Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations. J Med Genet 51:98-107, 2014
    • (2014) J Med Genet , vol.51 , pp. 98-107
    • Brohet, R.M.1    Velthuizen, M.E.2    Hogervorst, F.B.3
  • 22
    • 21344437509 scopus 로고    scopus 로고
    • A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes
    • Antoniou AC, Goldgar DE, Andrieu N, et al: A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol 29:1-11, 2005
    • (2005) Genet Epidemiol , vol.29 , pp. 1-11
    • Antoniou, A.C.1    Goldgar, D.E.2    Andrieu, N.3
  • 23
    • 84873096992 scopus 로고    scopus 로고
    • Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers
    • Talseth-Palmer BA, Wijnen JT, Brenne IS, et al: Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers. Int J Cancer 132:1556-1564, 2013
    • (2013) Int J Cancer , vol.132 , pp. 1556-1564
    • Talseth-Palmer, B.A.1    Wijnen, J.T.2    Brenne, I.S.3
  • 24
    • 59849094771 scopus 로고    scopus 로고
    • Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome
    • Wijnen JT, Brohet RM, van Eijk R, et al: Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome. Gastroenterology 136:131-137, 2009
    • (2009) Gastroenterology , vol.136 , pp. 131-137
    • Wijnen, J.T.1    Brohet, R.M.2    Van Eijk, R.3
  • 25
    • 84880916690 scopus 로고    scopus 로고
    • Do lifestyle factors influence colorectal cancer risk in Lynch syndrome?
    • van Duijnhoven FJ, Botma A, Winkels R, et al: Do lifestyle factors influence colorectal cancer risk in Lynch syndrome? Fam Cancer 12:285-293, 2013
    • (2013) Fam Cancer , vol.12 , pp. 285-293
    • Van Duijnhoven, F.J.1    Botma, A.2    Winkels, R.3
  • 26
    • 76749132847 scopus 로고    scopus 로고
    • Smoking and colorectal cancer in Lynch syndrome: Results from the colon cancer family registry and the university of texas M.D. Anderson cancer center
    • Pande M, Lynch PM, Hopper JL, et al: Smoking and colorectal cancer in Lynch syndrome: Results from the Colon Cancer Family Registry and the University of Texas M.D. Anderson Cancer Center. Clin Cancer Res 16:1331-1339, 2010
    • (2010) Clin Cancer Res , vol.16 , pp. 1331-1339
    • Pande, M.1    Lynch, P.M.2    Hopper, J.L.3
  • 27
    • 84857993554 scopus 로고    scopus 로고
    • Yield of routine molecular analyses in colorectal cancer patients - 70 years to detect underlying Lynch syndrome
    • van Lier MG, Leenen CH, Wagner A, et al: Yield of routine molecular analyses in colorectal cancer patients - 70 years to detect underlying Lynch syndrome. J Pathol 226:764-774, 2012
    • (2012) J Pathol , vol.226 , pp. 764-774
    • Van Lier, M.G.1    Leenen, C.H.2    Wagner, A.3
  • 28
    • 84859566031 scopus 로고    scopus 로고
    • Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years
    • Leenen CH, van Lier MG, van Doorn HC, et al: Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years. Gynecol Oncol 125:414-420, 2012
    • (2012) Gynecol Oncol , vol.125 , pp. 414-420
    • Leenen, C.H.1    Van Lier, M.G.2    Van Doorn, H.C.3
  • 29
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC
    • Vasen HF, Watson P, Mecklin JP, et al: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453-1456, 1999
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3
  • 30
    • 84885295208 scopus 로고    scopus 로고
    • Actionable, pathogenic incidental findings in 1,000 participants' exomes
    • Dorschner MO, Amendola LM, Turner EH, et al: Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet 93: 631-640, 2013
    • (2013) Am J Hum Genet , vol.93 , pp. 631-640
    • Dorschner, M.O.1    Amendola, L.M.2    Turner, E.H.3
  • 31
    • 84872073998 scopus 로고    scopus 로고
    • Incidental copy-number variants identified by routine genome testing in a clinical population
    • Boone PM, Soens ZT, Campbell IM, et al: Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15:45-54, 2013
    • (2013) Genet Med , vol.15 , pp. 45-54
    • Boone, P.M.1    Soens, Z.T.2    Campbell, I.M.3
  • 32
    • 84908502657 scopus 로고    scopus 로고
    • Nextgeneration sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
    • epub ahead of print on February 19
    • Castera L, Krieger S, Rousselin A, et al: Nextgeneration sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet [epub ahead of print on February 19, 2014]
    • (2014) Eur J Hum Genet
    • Castera, L.1    Krieger, S.2    Rousselin, A.3
  • 33
    • 34250715384 scopus 로고    scopus 로고
    • Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
    • Vasen HF, Möslein G, Alonso A, et al: Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 44:353-362, 2007
    • (2007) J Med Genet , vol.44 , pp. 353-362
    • Vasen, H.F.1    Möslein, G.2    Alonso, A.3
  • 34
    • 84876900933 scopus 로고    scopus 로고
    • Revised guidelines for the clinical management of Lynch syndrome (HNPCC): Recommendations by a group of european experts
    • Vasen HF, Blanco I, Aktan-Collan K, et al: Revised guidelines for the clinical management of Lynch syndrome (HNPCC): Recommendations by a group of European experts. Gut 62:812-823, 2013
    • (2013) Gut , vol.62 , pp. 812-823
    • Vasen, H.F.1    Blanco, I.2    Aktan-Collan, K.3
  • 35
    • 3242670404 scopus 로고    scopus 로고
    • Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance
    • Hendriks YM, Wagner A, Morreau H, et al: Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance. Gastroenterology 127:17-25, 2004
    • (2004) Gastroenterology , vol.127 , pp. 17-25
    • Hendriks, Y.M.1    Wagner, A.2    Morreau, H.3
  • 36
    • 84901651621 scopus 로고    scopus 로고
    • The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer
    • Ketabi Z, Gerdes AM, Mosgaard B, et al: The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer. Gynecol Oncol 133:526-530, 2014
    • (2014) Gynecol Oncol , vol.133 , pp. 526-530
    • Ketabi, Z.1    Gerdes, A.M.2    Mosgaard, B.3
  • 37
    • 84870469759 scopus 로고    scopus 로고
    • Causes of death of mutation carriers in finnish Lynch syndrome families
    • PylvänäinenK, Lehtinen T, Kellokumpu I, et al: Causes of death of mutation carriers in Finnish Lynch syndrome families. Fam Cancer 11:467-471, 2012
    • (2012) Fam Cancer , vol.11 , pp. 467-471
    • Pylvänäinen, K.1    Lehtinen, T.2    Kellokumpu, I.3
  • 38
    • 79957438303 scopus 로고    scopus 로고
    • Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors
    • Ketabi Z, Bartuma K, Bernstein I, et al: Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors. Gynecol Oncol 121:462-465, 2011
    • (2011) Gynecol Oncol , vol.121 , pp. 462-465
    • Ketabi, Z.1    Bartuma, K.2    Bernstein, I.3
  • 39
    • 84880918898 scopus 로고    scopus 로고
    • Surveillance for urinary tract cancer in Lynch syndrome
    • Bernstein IT, Myrhøj T: Surveillance for urinary tract cancer in Lynch syndrome. Fam Cancer 12: 279-284, 2013
    • (2013) Fam Cancer , vol.12 , pp. 279-284
    • Bernstein, I.T.1    Myrhøj, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.