메뉴 건너뛰기




Volumn 20, Issue 5, 2012, Pages 470-477

MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry

Author keywords

Familial cancer; Hereditary nonpolyposis colorectal cancer; Immunohistochemistry; Lynch syndrome; MSH6

Indexed keywords

GENOMIC DNA; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

EID: 84866604260     PISSN: 15412016     EISSN: 15334058     Source Type: Journal    
DOI: 10.1097/PAI.0b013e318249739b     Document Type: Article
Times cited : (18)

References (43)
  • 1
    • 0034644185 scopus 로고    scopus 로고
    • Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland
    • Lichtenstein P, Holm NV, Verkasalo PK, et al. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000; 342:78-82.
    • (2000) N Engl J Med , vol.342 , pp. 78-82
    • Lichtenstein, P.1    Holm, N.V.2    Verkasalo, P.K.3
  • 2
    • 21344470459 scopus 로고    scopus 로고
    • Hereditary colorectal cancer syndromes
    • Strate LL, Syngal S. Hereditary colorectal cancer syndromes. Cancer Cases Control. 2005;16:201-213.
    • (2005) Cancer Cases Control , vol.16 , pp. 201-213
    • Strate, L.L.1    Syngal, S.2
  • 3
    • 20244386395 scopus 로고    scopus 로고
    • Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary colorectal cancer
    • Pinol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary colorectal cancer. JAMA. 2005;293:1986-1993.
    • (2005) JAMA , vol.293 , pp. 1986-1993
    • Pinol, V.1    Castells, A.2    Andreu, M.3
  • 4
    • 66049108395 scopus 로고    scopus 로고
    • Awareness of hereditary in colorectal cancer patients is insufficient among clinicians; A Norwegian population-based study
    • Tranø G,Wasmuth HH, Sjursen W, et al. Awareness of hereditary in colorectal cancer patients is insufficient among clinicians; a Norwegian population-based study. Colorectal Dis. 2009;II:456-463.
    • (2009) Colorectal Dis , vol.2 , pp. 456-463
    • Tranø, G.1    Wasmuth, H.H.2    Sjursen, W.3
  • 6
    • 4544310802 scopus 로고    scopus 로고
    • Mutations associated with HNPCC predisposition-update of ICG-HNPCC/INSIGHT mutation database
    • Peltomäki P, Vasen H. Mutations associated with HNPCC predisposition-update of ICG-HNPCC/INSIGHT mutation database. Dis Markers. 2004;20:269-276.
    • (2004) Dis Markers , vol.20 , pp. 269-276
    • Peltomäki, P.1    Vasen, H.2
  • 7
    • 59449103924 scopus 로고    scopus 로고
    • Major contribution from recurrent alterations and MSH6 mutations in Danish Lynch syndrome population
    • Nilbert M, Wikman FP, Hansen TVO, et al. Major contribution from recurrent alterations and MSH6 mutations in Danish Lynch syndrome population. Fam Cancer. 2009;8:75-83.
    • (2009) Fam Cancer , vol.8 , pp. 75-83
    • Nilbert, M.1    Wikman, F.P.2    Hansen, T.V.O.3
  • 8
    • 0001628596 scopus 로고    scopus 로고
    • Familial endometrial cancer in female carriers of MSH6 germline mutations
    • Wijnen J, de Leeuw W, Vasen HF, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nature Genet. 1999;23:142-144.
    • (1999) Nature Genet , vol.23 , pp. 142-144
    • Wijnen, J.1    De Leeuw, W.2    Vasen, H.F.3
  • 9
    • 0035300475 scopus 로고    scopus 로고
    • Absence of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer
    • Schweizer P, Moisio A-L, Kuismanen SA, et al. Absence of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer. Cancer Res. 2001;61: 2813-2815.
    • (2001) Cancer Res , vol.61 , pp. 2813-2815
    • Schweizer, P.1    Moisio, A.-L.2    Kuismanen, S.A.3
  • 10
    • 0036035578 scopus 로고    scopus 로고
    • Ovarian cancer of endometrioid type as part of the MSH6 gene mutation phenotype
    • Suchy J, Kurzawski G, Jakubowska A, et al. Ovarian cancer of endometrioid type as part of the MSH6 gene mutation phenotype. J Hum Genet. 2002;47:529-531.
    • (2002) J Hum Genet , vol.47 , pp. 529-531
    • Suchy, J.1    Kurzawski, G.2    Jakubowska, A.3
  • 11
    • 0037609660 scopus 로고    scopus 로고
    • Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers
    • Goodfellow PJ, Buttin BM, Herzog TJ, et al. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. PNAS. 2003;100:5908-5913.
    • (2003) PNAS , vol.100 , pp. 5908-5913
    • Goodfellow, P.J.1    Buttin, B.M.2    Herzog, T.J.3
  • 12
    • 38549165615 scopus 로고    scopus 로고
    • Germline mutations are more prevalent in endometrial cancer patient cohorts than Hereditary Non Polyposis Colorectal Cancer cohorts
    • Devlin LA, Graham CA, Price JH, et al. Germline mutations are more prevalent in endometrial cancer patient cohorts than Hereditary Non Polyposis Colorectal Cancer cohorts. Ulster Med J. 2007;77:25-30.
    • (2007) Ulster Med J , vol.77 , pp. 25-30
    • Devlin, L.A.1    Graham, C.A.2    Price, J.H.3
  • 13
    • 0035033581 scopus 로고    scopus 로고
    • Atypical HNPCC owing to MSH6 germline mutations: Analysis of a large Dutch pedigree
    • Wagner A, Hendricks Y, Meijers-Meijboer EJ, et al. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet. 2001;38:318-322.
    • (2001) J Med Genet , vol.38 , pp. 318-322
    • Wagner, A.1    Hendricks, Y.2    Meijers-Meijboer, E.J.3
  • 14
    • 76349108011 scopus 로고    scopus 로고
    • Risks of Lynch syndrome cancer for MSH6 mutation carriers
    • Baglietto L, Lindor NM, Dowty JG, et al. Risks of Lynch syndrome cancer for MSH6 mutation carriers. J Natl Cancer Inst. 2009;102: 193-201.
    • (2009) J Natl Cancer Inst , vol.102 , pp. 193-201
    • Baglietto, L.1    Lindor, N.M.2    Dowty, J.G.3
  • 15
    • 1642415306 scopus 로고    scopus 로고
    • Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by absence of protein expression in tumor tissue
    • Plaschke J, Kruger S, Dietmaier W, et al. Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by absence of protein expression in tumor tissue. Hum Mutat. 2004;23:1-7.
    • (2004) Hum Mutat , vol.23 , pp. 1-7
    • Plaschke, J.1    Kruger, S.2    Dietmaier, W.3
  • 16
    • 11144279281 scopus 로고    scopus 로고
    • Value of immunohistochemistry detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms
    • Shia J, Klimstra DS, Khedoudja N, et al. Value of immunohistochemistry detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms. Am J Surg Pathol. 2005;29:96-104.
    • (2005) Am J Surg Pathol , vol.29 , pp. 96-104
    • Shia, J.1    Klimstra, D.S.2    Khedoudja, N.3
  • 17
    • 34548141754 scopus 로고    scopus 로고
    • Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC
    • Roncari B, Pedroni M, Maffei F, et al. Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC. Clin Genet. 2007;72:230-237.
    • (2007) Clin Genet , vol.72 , pp. 230-237
    • Roncari, B.1    Pedroni, M.2    Maffei, F.3
  • 18
    • 47649123223 scopus 로고    scopus 로고
    • Point/Counterpoint. Immunohistochemistry versus microsatellite instability testing for colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry
    • Shia J. Point/Counterpoint. Immunohistochemistry versus microsatellite instability testing for colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn. 2008;10:293-300.
    • (2008) J Mol Diagn , vol.10 , pp. 293-300
    • Shia, J.1
  • 19
    • 77957146724 scopus 로고    scopus 로고
    • Interobserver variability in the evaluation of mismatch protein immunostaining
    • Klarskov L, Ladelund S, Holck S, et al. Interobserver variability in the evaluation of mismatch protein immunostaining. Hum Pathol. 2010;41:1387-1396.
    • (2010) Hum Pathol , vol.41 , pp. 1387-1396
    • Klarskov, L.1    Ladelund, S.2    Holck, S.3
  • 20
    • 0032749569 scopus 로고    scopus 로고
    • Germ-line MSH6 mutations in colorectal cancer families
    • Kolodner RD, Tytell JD, Schmeits JL, et al. Germ-line MSH6 mutations in colorectal cancer families. Cancer Res. 1999;59: 5068-5074.
    • (1999) Cancer Res , vol.59 , pp. 5068-5074
    • Kolodner, R.D.1    Tytell, J.D.2    Schmeits, J.L.3
  • 21
    • 33748526345 scopus 로고    scopus 로고
    • Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: Hereditary colorectal cancer as a polygenic trait
    • Okkels H, Sunde L, Lindorff-Larsen K, et al. Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait. Int J Colorectal Dis. 2006;21:847-850.
    • (2006) Int J Colorectal Dis , vol.21 , pp. 847-850
    • Okkels, H.1    Sunde, L.2    Lindorff-Larsen, K.3
  • 22
    • 33644892563 scopus 로고    scopus 로고
    • Neurofibromatosis von Recklinghausen type i phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6
    • Oestergaard JR, Sunde L, Okkels H. Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. Am J Med Genet. 2005;139:96-105.
    • (2005) Am J Med Genet , vol.139 , pp. 96-105
    • Oestergaard, J.R.1    Sunde, L.2    Okkels, H.3
  • 23
    • 0037843418 scopus 로고    scopus 로고
    • Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for MSH6 immunostaining
    • Rigau V, Sebbagh N, Olschwang S, et al. Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for MSH6 immunostaining. Arch Pathol Lab Med. 2003;127:694-700.
    • (2003) Arch Pathol Lab Med , vol.127 , pp. 694-700
    • Rigau, V.1    Sebbagh, N.2    Olschwang, S.3
  • 24
    • 6444245421 scopus 로고    scopus 로고
    • Prediction of the outcome of genetic testing in HNPCC kindreds using the revised Amsterdam criteria and immunohistochemistry
    • Stormorken AT, Müller W, Lemkemeyer B, et al. Prediction of the outcome of genetic testing in HNPCC kindreds using the revised Amsterdam criteria and immunohistochemistry. Familial Cancer. 2001;1:169-173.
    • (2001) Familial Cancer , vol.1 , pp. 169-173
    • Stormorken, A.T.1    Müller, W.2    Lemkemeyer, B.3
  • 25
    • 81155162622 scopus 로고    scopus 로고
    • Challenges in the Identification of MSH6-associated Colorectal Cancer; Rectal location, less typical histology and a subset with retained mismatchrepair function
    • Klarskov L, Holck S, Bernstein I, et al. Challenges in the Identification of MSH6-associated Colorectal Cancer; rectal location, less typical histology and a subset with retained mismatchrepair function. Am J Surg Path. 2011;35:1391-1399.
    • (2011) Am J Surg Path , vol.35 , pp. 1391-1399
    • Klarskov, L.1    Holck, S.2    Bernstein, I.3
  • 26
    • 0036498882 scopus 로고    scopus 로고
    • Mutations in hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: Correlation with microsatellite instability and abnormalities of mismatch repair protein expression
    • Scartozzi M, Bianchi F, Rosati S, et al. Mutations in hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. J Clin Oncol. 2002;20:1203-1208.
    • (2002) J Clin Oncol , vol.20 , pp. 1203-1208
    • Scartozzi, M.1    Bianchi, F.2    Rosati, S.3
  • 27
    • 0037096801 scopus 로고    scopus 로고
    • Evaluation of microsatellite instability and immunohistochemistry for the prediction of germline MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families
    • Wahlberg SS, Schmeits J, Thomas G, et al. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germline MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res. 2002;62:2485-3492.
    • (2002) Cancer Res , vol.62 , pp. 2485-3492
    • Wahlberg, S.S.1    Schmeits, J.2    Thomas, G.3
  • 28
    • 33646832403 scopus 로고    scopus 로고
    • The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD)
    • Stockkhausner C, Breit S, Neu-Yilik G, et al. The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD). Nucleic Acids Res. 2006;34:2355-2363.
    • (2006) Nucleic Acids Res , vol.34 , pp. 2355-2363
    • Stockkhausner, C.1    Breit, S.2    Neu-Yilik, G.3
  • 29
    • 84873317207 scopus 로고    scopus 로고
    • http://www.webcitation.org/62JWnq8BN. Accessed October 2011
    • Immunohistochemistry analysis of pMSH6. Available at: http:// www.nordiqc.org/Run-32-B11/Assessment/assessment-32-MSH6.htm; http://www.webcitation.org/62JWnq8BN. Accessed October 2011.
    • Immunohistochemistry Analysis of pMSH6.
  • 30
    • 0037093496 scopus 로고    scopus 로고
    • Functional analysis of MSH6 mutations linked to kindreds with putative hereditary nonpolyposis colorectal cancer syndrome
    • Kariola R, Raevaara TE, Lönnquist KE, et al. Functional analysis of MSH6 mutations linked to kindreds with putative hereditary nonpolyposis colorectal cancer syndrome. HumMol Genet. 2002;11:1303-1310.
    • (2002) HumMol Genet , vol.11 , pp. 1303-1310
    • Kariola, R.1    Raevaara, T.E.2    Lönnquist, K.E.3
  • 31
    • 18244380349 scopus 로고    scopus 로고
    • Molecular and clinical characteristics of MSH6 variants: An analysis of 25 index carriers of a germline variant
    • Berends MJW, Wu Y, Sijmons RH, et al. Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet. 2002;70:26-37.
    • (2002) Am J Hum Genet , vol.70 , pp. 26-37
    • Berends, M.J.W.1    Wu, Y.2    Sijmons, R.H.3
  • 32
    • 1342309591 scopus 로고    scopus 로고
    • Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: A population-based study in northern Sweden
    • Cederquist K, EmauelssonM, Göransson I, et al. Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. Int J Cancer. 2004;109:370-376.
    • (2004) Int J Cancer , vol.109 , pp. 370-376
    • Cederquist, K.1    Emauelsson, M.2    Göransson, I.3
  • 33
    • 0035859003 scopus 로고    scopus 로고
    • HNPCC mutations in the human mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes
    • Jäger AC, Rasmussen M, Bisgaard HC, et al. HNPCC mutations in the human mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. Oncogene. 2001;14: 3590-3605.
    • (2001) Oncogene , vol.14 , pp. 3590-3605
    • Jäger, A.C.1    Rasmussen, M.2    Bisgaard, H.C.3
  • 34
    • 0031769438 scopus 로고    scopus 로고
    • Interactions of human MSH2 with MSH3 and MSH2 with MSH6: Examination of mutations found in hereditary nonpolypolis colorectal cancer
    • Guerrette S, Wilson T, Gradia S, et al. Interactions of human MSH2 with MSH3 and MSH2 with MSH6: Examination of mutations found in hereditary nonpolypolis colorectal cancer. Mol Cell Biol. 1998;18:6616-6623.
    • (1998) Mol Cell Biol , vol.18 , pp. 6616-6623
    • Guerrette, S.1    Wilson, T.2    Gradia, S.3
  • 35
    • 0032079736 scopus 로고    scopus 로고
    • MSH2 and MSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSa
    • Iaccarino I, Marra G, Palombo F, et al. MSH2 and MSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSa. EMBO J. 1998;17:2677-2686.
    • (1998) EMBO J , vol.17 , pp. 2677-2686
    • Iaccarino, I.1    Marra, G.2    Palombo, F.3
  • 36
    • 0034695488 scopus 로고    scopus 로고
    • Mutation in the magnesium binding site of MSH6 disables the hMutSa sliding clamp from translocating along DNA
    • Iaccarino I, Marra G, Dufner P, et al. Mutation in the magnesium binding site of MSH6 disables the hMutSa sliding clamp from translocating along DNA. J Biol Chem. 2000;275:2080-2086.
    • (2000) J Biol Chem , vol.275 , pp. 2080-2086
    • Iaccarino, I.1    Marra, G.2    Dufner, P.3
  • 37
    • 0035868951 scopus 로고    scopus 로고
    • MSH3 and MSH6 interact with PCNA and colocalize with it to replication foci
    • Kleczkowska HE, Marra G, Lettieri T, et al. MSH3 and MSH6 interact with PCNA and colocalize with it to replication foci. Genes Dev. 2001;15:724-736.
    • (2001) Genes Dev , vol.15 , pp. 724-736
    • Kleczkowska, H.E.1    Marra, G.2    Lettieri, T.3
  • 38
    • 0037313905 scopus 로고    scopus 로고
    • Two mismatch repair gene mutations in a colon cancer patient - Which one is pathogenic UV
    • Kariola R, Otway R, Lönnquist KE, et al. Two mismatch repair gene mutations in a colon cancer patient - which one is pathogenic UV. Hum Genet. 2003;112:105-109.
    • (2003) Hum Genet , vol.112 , pp. 105-109
    • Kariola, R.1    Otway, R.2    Lönnquist, K.E.3
  • 39
    • 57649112528 scopus 로고    scopus 로고
    • Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNAS msimatch binding
    • Cyr JL, Heinen CD. Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNAS msimatch binding. J Biol Chem. 2008;283:31641-31648.
    • (2008) J Biol Chem , vol.283 , pp. 31641-31648
    • Cyr, J.L.1    Heinen, C.D.2
  • 40
    • 0036468254 scopus 로고    scopus 로고
    • MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolypolis colorectal cancer
    • Charbonnier F, Olschwang S, Wang Q, et al. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolypolis colorectal cancer. Cancer Res. 2002;62:848-853.
    • (2002) Cancer Res , vol.62 , pp. 848-853
    • Charbonnier, F.1    Olschwang, S.2    Wang, Q.3
  • 41
    • 0042828931 scopus 로고    scopus 로고
    • Genomic rearrangements of MSH6 contribute to the genetic predisposition in suspected hereditary non-polypolis colorectal cancer syndrome
    • Plaschke J, Rüschoff J, Schackert HK. Genomic rearrangements of MSH6 contribute to the genetic predisposition in suspected hereditary non-polypolis colorectal cancer syndrome. J Med Genet. 2003;40:597-600.
    • (2003) J Med Genet , vol.40 , pp. 597-600
    • Plaschke, J.1    Rüschoff, J.2    Schackert, H.K.3
  • 42
    • 0036132077 scopus 로고    scopus 로고
    • Identification and functional characterization of the promoter region of the human MSH6 gene
    • Szadkowski M, Jiricny J. Identification and functional characterization of the promoter region of the human MSH6 gene. Genes Chromosomes Cancer. 2002;33:36-46.
    • (2002) Genes Chromosomes Cancer , vol.33 , pp. 36-46
    • Szadkowski, M.1    Jiricny, J.2
  • 43
    • 0034541557 scopus 로고    scopus 로고
    • Do MSH6 mutations contribute to double primary cancers of the colorectum and endometriumUV
    • Charames GS, Millar AL, Pal T, et al. Do MSH6 mutations contribute to double primary cancers of the colorectum and endometriumUV. Hum Genet. 2000;107:623-629.
    • (2000) Hum Genet , vol.107 , pp. 623-629
    • Charames, G.S.1    Millar, A.L.2    Pal, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.