Extensive molecular screening for hereditary non-polyposis colorectal cancer (original) (raw)
References
Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, Kaariainen H, Eskelinen M, Jarvinen H, Mecklin JP and de la Chapelle A (1998) Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med338: 1481–1487 ArticleCASPubMed Google Scholar
Aebi S, Kurdi-Haidar B, Gordon R, Cenni B, Zheng H, Fink D, Christen RD, Boland CR, Koi M, Fishel R and Howell SB (1996) Loss of DNA mismatch repair in acquired resistance to cisplatin. Cancer Res56: 3087–3090 CASPubMed Google Scholar
Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R and Yuasa Y (1997) Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res57: 3920–3923 CASPubMed Google Scholar
Baker SJ, Fearon ER, Nigro JM, Hamilton SR, Preisinger AC, Milburn Jessup J, van Tuinen P, Ledbetter DH, Barker DF, Nakamura Y, White R and Vogelstein B (1989) Chromosome 17 deletions and p53 gene mutations in colorectal cancer. Science244: 217–221 ArticleCASPubMed Google Scholar
Benatti P, Sassatelli R, Roncucci L, Pedroni M, Fante R, Digregorio C, Losi L, Gelmini R and Deleon MP (1993) Tumour spectrum in hereditary non-polyposis colorectal cancer (HNPCC) and in families with ‘suspected HNPCC’ – a population-based study in northern Italy. Int J Cancer54: 371–377 ArticleCASPubMed Google Scholar
Bocker T, Diermann J, Friedl W, Gebert J, Holinski-Feder E, Karner-Hanush J, von Knebel-Doeberitz M, Koelble K, Moeslein G, Schackert H, Wirtz H, Fishel R and Rüschoff J (1997) Microsatellite instability analysis: a multicenter study for reliability and quality control. Cancer Res57: 4739–4743 CASPubMed Google Scholar
Borresen A, Lothe RA, Meling GI, Lystad S, Morrison P, Lipford J, Kane MF, Rognum TO and Kolodner RD (1995) Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. Hum Mol Genet4: 2065–2072 ArticleCASPubMed Google Scholar
Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergard P, Bollag RJ, Godwin AR, Ward PC, Nordenskjold M, Fishel R, Kolodner R and Liskay RM (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature368: 258–261 ArticleCASPubMed Google Scholar
Burt RW (1996) Familial risk and colon cancer. Int J Cancer (Pred Oncol)69: 44–46 ArticleCAS Google Scholar
Casey G, Lopez ME, Ramos JC, Plummer SJ, Arboleda MJ, Shaughnessy M, Karlan B and Slamon DJ (1996) DNA sequence analysis of exons 2 through 11 and immunohistochemical staining are required to detect all known p53 alterations in human malignancies. Oncogene13: 1971–1981 CASPubMed Google Scholar
Damalas A, Ben-Ze’ev A, Simcha I, Shtutman M, Leal JF, Zhurinsky J, Geiger B and Oren M (1999) Excess beta-catenin promotes accumulation of transcriptionally active p53. EMBO J18: 3054–3063 ArticleCASPubMedPubMed Central Google Scholar
de Vathaire F, Koscielny S, Rezvani A, Laplanche A, Estève J, Ferlay J, de Vathaire F (1996). Estimation de l'incidence des cancers en France, 1983–1987, Editions INSERM: Paris Google Scholar
Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R and Rüschoff J (1997) Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res57: 4749–4756 CASPubMed Google Scholar
Drummond JT, Li G, Longley MJ and Modrich P (1995) Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science268: 1909–1912 ArticleCASPubMed Google Scholar
Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J and Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary non polyposis colon cancer. Cell75: 1027–1038 ArticleCASPubMed Google Scholar
Fishel R, Ewel A, Lee S, Lescoe MK and Griffith J (1994) Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science266: 1403–1405 ArticleCASPubMed Google Scholar
Fujiwara T, Stolker JM, Watanabe T, Rashid A, Longo P, Eshleman JR, Booker S, Lynch HT, Jass JR, Green JS, Kim H, Jen J, Vogelstein B and Hamilton SR (1998) Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences. Am J Pathol153: 1063–1078 ArticleCASPubMedPubMed Central Google Scholar
Futreal PA, Liu QY, Shattuckeidens D, Cochran C, Harshman K, Tavtigian S, Bennett LM, Haugenstrano A, Swensen J, Miki Y, Eddington K, McClure M, Frye C, Weaverfeldhaus J, Ding W, Gholami Z, Soderkvist P, Terry L, Jhanwar S and Berchuck A (1994) BRCA1 mutations in primary breast and ovarian carcinomas. Science266: 120–122 ArticleCASPubMed Google Scholar
Genuardi M, Anti M, Capozzi E, Leonardi F, Fornasarig M, Novella E, Bellacosa A, Valenti A, Gasbarrini GB, Roncucci L, Benatti P, Percesepe A, Ponz de Leon M, Coco C, de Paoli A, Valentini M, Boiocchi M, Neri G and Viel A (1998 a) MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. Int J Cancer75: 835–839 ArticleCASPubMed Google Scholar
Genuardi M, Viel A, Bonora D, Capozzi E, Bellacosa A, Leonardi F, Valle R, Ventura A, Pedroni M, Boiocchi M and Neri G (1998 b) Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. Hum Genet102: 15–20 ArticleCASPubMed Google Scholar
Gompel A, Sabourin JC, Martin A, Yaneva H and Poitout P (1994) BCL-2 expression in the endometrium during the menstrual cycle. Am J Pathol144: 1195–1202 CASPubMedPubMed Central Google Scholar
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M and Weissenbach J (1994) The 1993–1994 Généthon human genetic linkage map. Nature Genet7: 246–339 ArticleCASPubMed Google Scholar
Hemminki A, Peltomaki P, Mecklin J, Järvinen H, Salovaara R, Nyström-Lahti M, de la Chapelle A and Aaltonen LA (1994) Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nature Genet8: 405–410 ArticleCASPubMed Google Scholar
Herman JG, Umar A, Polyak K, Graff JR, Ahuja N, Issa JPJ, Markowitz S, Willson JKV, Hamilton SR, Kinzler KW, Kane MF, Kolodner RD, Vogelstein B, Kunkel TA and Baylin SB (1998) Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA95: 6870–6875 ArticleCASPubMedPubMed Central Google Scholar
Ionov Y, Peinado MA, Malkhosyan S, Shibata D and Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature363: 558–561 ArticleCASPubMed Google Scholar
Janin N (2000) A simple model for carcinogenesis of colorectal cancers with microsatellite instability. Adv Cancer Res77: 189–221 ArticleCASPubMed Google Scholar
Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, Jessup JM and Kolodner R (1997) Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell line. Cancer Res57: 808–811 CASPubMed Google Scholar
Kinzler K and Vogelstein B (1996) Lessons from hereditary colorectal cancer. Cell87: 159–170 ArticleCASPubMed Google Scholar
Kohonen-Corish M, Ross VL, Doe WF, Kool DA, Edkins E, Faragher I, Wijnen J, Meera Khan P, Macrae F and St John DJB (1996) RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Am J Hum Genet59: 818–824 CASPubMedPubMed Central Google Scholar
Konishi M, Kikuchi-Yanoshita R, Tanaka K, Muraoka M, Onda A, Okumura Y, Kishi N, Iwama T, Mori T, Koike M, Ushio K, Chiba M, Nomizu S, Konishi F, Utsunomiya J and Miyaki M (1996) Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology111: 307–317 ArticleCASPubMed Google Scholar
Kowalski LD, Mutch DG, Herzog TJ, Rader JS and Goodfellow PJ (1997) Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers. Genes Chromosomes Cancer18: 219–227 ArticleCASPubMed Google Scholar
Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystromlahti M, Guan XY, Zhang J, Meltzer PS, Yu JW, Kao FT, Chen DJ, Cerosaletti KM, Fournier REK, Todd S and Lewis T (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell75: 1215–1225 ArticleCASPubMed Google Scholar
Liu B, Farrington SM, Petersen GM, Hamilton SR, Parsons R, Papadopoulos N, Fujiwara T, Jen J, Kinzler KW, Wyllie AH, Vogelstein B and Dunlop MG (1995 a) Genetic instability occurs in the majority of young patients with colorectal cancer. Nat Med1: 348–352 ArticleCASPubMed Google Scholar
Liu B, Nicolaides NC, Markowitz S, Willson JKV, Parsons RE, Jen J, Papadopoulos N, Peltomäki P, de la Chapelle A, Hamilton SR, Kinzler KW and Vogelstein B (1995 b) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet9: 48–55 ArticleCASPubMed Google Scholar
Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, Jass JR, Dunlop M, Wyllie A, Peltomaki P, de la Chapelle A, Hamilton SR, Vogelstein B and Kinzler KW (1996) Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med2: 169–174 ArticleCASPubMed Google Scholar
Losi L, Ponz de Leon M, Jiricny J, Di Gregorio C, Benatti P, Percesepe A, Fante R, Roncucci L, Pedroni M and Benhattar J (1997) K-ras and p53 mutations in hereditary non-polyposis colorectal cancers. Int J Cancer74: 94–96 ArticleCASPubMed Google Scholar
Lu S, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K and Yuasa Y (1998) HNPCC associated with germline mutation in the TGFβ type II receptor gene. Nat Genet19: 17–18 ArticleCASPubMed Google Scholar
Lynch HT and Smyrk T (1996) Hereditary non-polyposis colorectal cancer (Lynch syndrome). An updated review. Cancer78: 1149–1167 ArticleCASPubMed Google Scholar
Lynch HT, Ens J, Lynch JF and Watson P (1988) Tumor variation in three extended Lynch syndrome II kindreds. Am J Gastroenterol83: 741–747 CASPubMed Google Scholar
Lynch HT, Smyrk T and Lynch JF (1996) Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome). Int J Cancer (Pred Oncol)69: 38–43 ArticleCAS Google Scholar
Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, Weber BL, Collins FS, Johnston C and Franck TS (1995) Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nature Genet9: 439–443 ArticleCASPubMed Google Scholar
Midgley CA and Lane DP (1997) p53 protein stability in tumour cells is not determined by mutation but is dependent on Mdm2 binding. Oncogene15: 1179–1189 ArticleCASPubMed Google Scholar
Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M and Mori T (1997) Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet17: 271–272 ArticleCASPubMed Google Scholar
Mori Y, Shiwaku H, Fukushige S, Wakatsuki S, Sato M, Nukiwa T and Horii A (1997) Alternative splicing of hMSH2 in normal human tissues. Hum Genet99: 590–595 ArticleCASPubMed Google Scholar
Moslein G, Tester DJ, Lindor NM, Honchel R, Cunningham JM, French AJ, Halling KC, Schwab M, Goretzki P and Thibodeau SN (1996) Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet5: 1245–1252 ArticleCASPubMed Google Scholar
Munemitsu S, Albert I, Souza B, Rubinfeld B and Polakis P (1995) Regulation of intracellular beta-catenin levels by the adenomatous polyposis coli (APC) tumor-suppressor protein. Proc Natl Acad Sci USA92: 3046–3050 ArticleCASPubMedPubMed Central Google Scholar
Nicolaides NC, Papadopoulos N, Liu B, Wei Y, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, de la Chapelle A, Vogelstein B and Kinzler KW (1994) Mutations of two PMS homologs in hereditary non polyposis colon cancer. Nature371: 75–80 ArticleCASPubMed Google Scholar
Nicolaides NC, Littman SJ, Modrich P, Kinzler KW and Vogelstein B (1998) A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. Mol Cell Biol18: 1635–1641 ArticleCASPubMedPubMed Central Google Scholar
Olschwang S, Hamelin R, Laurent-Puig P, Thuille B, De Rycke Y, Li Y, Muzeau F, Girodet J, Salmon R and Thomas G (1997) Alternative genetic pathways in colorectal carcinogenesis. Proc Natl Acad Sci USA94: 12122–12123 ArticleCASPubMedPubMed Central Google Scholar
Orth K, Hung J, Gazdar A, Bowcock A, Mathis M and Sambrook J (1994) Genetic instability in human ovarian cancer cell lines. Proc Natl Acad Sci USA91: 9495–9499 ArticleCASPubMedPubMed Central Google Scholar
Papadopoulos N, Nicolaides N, Wei Y, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomäki P, Mecklin J, de la Chapelle A, Kinzler K and Vogelstein B (1994) Mutation of a mutL homolog in hereditary colon cancer. Science263: 1625–1629 ArticleCASPubMed Google Scholar
Parsons R, Myeroff LL, Liu B, Willson JKV, Markowitz SD, Kinzler KW and Vogelstein B (1995) Microsatellite instability and mutations of the transforming growth factor β type II receptor gene in colorectal cancer. Cancer Res55: 5548–5550 CASPubMed Google Scholar
Prolla TA, Pang Q, Alani E, Kolodner RD and Liskay RM (1994) MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast. Science265: 1091–1093 ArticleCASPubMed Google Scholar
Richards B, Zhang H, Phear G and Meuth M (1997) Conditional mutator phenotypes in hMSH2-deficient tumor cell lines. Science277: 1523–1526 ArticleCASPubMed Google Scholar
Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L and Srivastava S (1997) A National Cancer Institute workshop on Hereditary Non-polyposis Colorectal Cancer: meeting highlights and Bethesda guidelines. J Natl Cancer Inst89: 1758–1762 ArticleCASPubMed Google Scholar
Shimodaira H, Filosi N, Shibata H, Suzuki T, Radice P, Kanamaru R, Friend SH, Kolodner RD and Ishioka C (1998) Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. Nature Genetics19: 384–389 ArticleCASPubMed Google Scholar
Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, the French Familial Melanoma Study Group Bénard J and Bressac-de Paillerets B (1998) Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. Hum Mol Genet7: 209–216 ArticleCASPubMed Google Scholar
Thibodeau SN, French AJ, Roche PC, Cunningham JM, Tester DJ, Lindor NM, Moslein G, Baker SM, Liskay RM, Burgart LJ, Honchel R and Halling KC (1996) Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res56: 4836–4840 CASPubMed Google Scholar
Tomlinson IP, Beck NE, Homfray T, Harocopos CJ and Bodmer WF (1997) Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. J Med Genet34: 39–42 ArticleCASPubMedPubMed Central Google Scholar
Vasen HFA, Offerhaus GJA, den Hartog Jager FCA, Menko FH, Nagengast FM, Griffioen G, van Hogezand RB and Heintz APM (1990) The tumour spectrum in hereditary non-polyposis colorectal cancer: a study of 24 kindreds in the Netherlands. Int J Cancer46: 31–34 ArticleCASPubMed Google Scholar
Vasen HFA, Mecklin J, Meera Khan P and Lynch HT (1991) The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum34: 424–425 ArticleCASPubMed Google Scholar
Vasen HFA, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L, Bisgaard M, Mohr J, Fodde R and Meera Khan P (1996) Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology110: 1020–1027 ArticleCASPubMed Google Scholar
Wang Q, Desseigne F, Lasset C, Saurin J, Navarro C, Yagci T, Keser I, Bagci H, Luleci G, Gelen T, Chayvialle J, Puisieux A and Ozturk M (1997) Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. Int J Cancer73: 831–836 ArticleCASPubMed Google Scholar
Watson P and Lynch HT (1993) Extracolonic cancer in hereditary non-polyposis colorectal cancer. Cancer71: 677–685 ArticleCASPubMed Google Scholar
Weber T (1996) Clinical surveillance recommendations adopted for HNPCC. Lancet348: 465 Article Google Scholar
Xia L, Shen W, Ritacca F, Mitri A, Madlensky L, Berk T, Cohen Z, Gallinger S and Bapat B (1996) A truncated hMSH2 transcript occurs as a common variant in the population: implication for genetic diagnosis. Cancer Res56: 2289–2292 CASPubMed Google Scholar