Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers

Genes Chromosomes and Cancer

Volumn 18, Issue 3, 1997, Pages 219-227

  Kowalski, Lynn D ^a   Mutch, David G ^a   Herzog, Thomas J ^a   Rader, Janet S ^a   Goodfellow, Paul J ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; DNA POLYMORPHISM; DNA REPAIR; DNA REPLICATION; ENDOMETRIUM CARCINOMA; FEMALE; GERM LINE; HUMAN; HUMAN TISSUE; MUTATION; MUTATION RATE; PHENOTYPE; PRIORITY JOURNAL; SOMATIC MUTATION;

EID: 0030997158     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2264(199703)18:3<219::AID-GCC8>3.0.CO;2-4     Document Type: Article

References (47)

1. Berchuk A, Kohler M, Carney P, Dodge R, Soper J, Rodriguez G, Robboy S, Marks J, Clarke-Pearson D (1996) Racial disparity in survival and p53 overexpression in advanced endometrial cancer. Gynecol Oncol 60:99, Abstract.
2. Borresen AL, Lothe RA, Meling GI, Lystad S, Morrison P, Lipford J, Kane MF, Rognum TO, Kolodner RD (1995) Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. Hum Mol Genet 4:2065-2072.
3. Chung D, Rustgi AK (1995) DNA mismatch repair and cancer. Gastroenterology 109:1685-1699.
4. Cristofaro G, Lynch HT, Caruso ML, Attolini A, DiMatteo G, Giorgio P, Senatore S, Argentieri A, Sbano E, Guanti G, Fusaro R, Giorgio P (1987) New phenotypic aspects in a family with Lynch syndrome II. Cancer 60:51-58.
5. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA, Jr. (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2:851-856.
6. Dos Santos N, Seruca R, Constancia M, Seixas M, Sobrinho-Simoes M (1996) Microsatellite instability at multiple loci in gastric carcinoma: Clinicopathologic implications and prognosis. Gastroenterology 110:38-44.
7. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R (1995) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer (published erratum appears in Cell 1994 77:167). Cell 75:1027-1038.
8. Gayther S, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, Seal S, Hamoudi R, van Rensburg EJ, Dunning AM, Love R, Evans G, Easton D, Clayton D, Stratton MR, Ponder BAJ (1995) Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nature Genet 11:428-433.
9. Glebov O, McKenzie KE, White CA, Sukumar S (1994) Frequent p53 gene mutations and novel alleles in familial breast cancer. Cancer Res 54:3703-5709.
10. Han HJ, Yanagisawa A, Kato V, Park JG, Nakamura Y (1993) Genetic instability in pancreatic cancer and poorly differentiated type of gastric cancer. Cancer Res 55:5087-5089.
11. Herfarth K, Kodner IJ, Whelan AJ, Ivanovich JL, Bracamontes JR, Wells SA, Goodfellow PJ (1997) Mutations in MLH1 are more frequent than MSH2 in sporadic colorectal cancers with microsatellite instability. Genes Chromosom Cancer, 18:42-49.
12. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363: 558-561.
13. Katabuchi H, van Rees B, Lambers AR, Ronnett BM, Blazes MS, Leach FS, Cho KR, Hedrick L (1995) Mutations in DNA mismatch repair genes are not responsible for microsatellite instability in most sporadic endometrial carcinomas. Cancer Res 55:5556-5560.
14. Kim H, Jen J, Vogelstein B, Hamilton SR (1994) Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsarellite sequences. Am J Pathol 145:148-156.
15. Kobayashi K, Sagae S, Kudo R, Saito H, Koi S, Nakamura Y (1995) Microsatellite instability in endometrial carcinomas: Frequent replication errors in tumors of early onset and/or of poorly differentiated type. Genes Chromosom Cancer 14:128-132.
16. Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MR, Morrison P, Wirth L, Finan PJ, Burn J, Chapman P, Earabino C, Merchant E, Bishop T (1994) Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 24:516-526.
17. Kolodner RD, Hall NR, Lipford J, Kane MF, Morrison PT, Finan PJ, Burn J, Chapman P, Earabino C, Merchant E, Bishop DT (1995) Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res 55:242-248.
18. Kunkel T (1993) Nucleotide repeats: Slippery DNA and diseases (news; comment). Nature 365:207-208.
19. Lahiri DK, Nurnberger JIA (1991) A rapid non-enzymatic method for the preparations ofd HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444.
20. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen LA, Nyström-Lathi M, Guan X-Y, Zhang J, Meltzer PS, Yu J-W, Kao F-T, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P. Järvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW, Vogelstein B (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225.
21. Lcvinson G, Gutman GA (1987) High frequency of short frameshifts in poly-CA/GT repeats home by bacteriophage M13 in Escherichia coli K12. Nucl Acid Res 15:5323-5328.
22. Lim P, Cliby W, Tester D, Thibodeau S, Podratz K, Jenkins R (1996) Mutational analysis of DNA mismatch repair genes, MSH2 and MLH1, in replication error-positive endometrial cancer. Gynecol Oncol 60:106, Abstract.
23. Liu B, Farrington SM, Petersen GM, Hamilton SR, Parsons R, Papadopoulos N, Fujiwara T, Jen J, Kinzler KW, Wyllie AH, Vogelstein B, Dunlop MG (1995a) Genetic instability occurs in the majority of voting patients with colorectal cancer. Nature Med 1:348-352.
24. Liu B, Nicolaides NC, Markowitz, S, Willson JK, Parsons RE, Jen J, Papadopolous N, Peltomäki P, de la Chapelle A, Hamilton SR, Kinzler KW, Vogelstein B (1995b) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet 9:48-55.
25. Liu J, Conaway M, Rodriguez GC, Soper JT, Clarke-Pearson DL, Berchuck A (1995c) Relationship between race and interval to treatment in endometrial cancer. Obstet Gynecol 86:486-490.
26. Lothe RA, Peltomäki P, Meling GI, Aaltonen LA, Nyström-Lahti M, Pylkkänen L, Heimdal K, Andersen TI, Møller P, Rognum TO, Fosså SD, Haldorsen T, Langmark F, Broøgger A, de la Chapelle A, Børresen A-L (1993) Genomic instability in colorectal cancer: Relationship to clinicopathological variables and family history. Cancer Res 53:5849-5852.
27. Merlo A, Mabry M, Gabrielson E, Vollmer R, Baylin SB, Sidransky D (1994) Frequent microsatellite instability in primary small cell lung cancer. Cancer Res 54:2098-2101.
28. Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G (1992) Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine -aminotransferase gene. Genomics 13:389-394.
29. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
30. Milner B, Allan LA, Eccles DM, Kitchener HC, Leonard RC, Kelly KF, Parkin DE, Haites NE (1993) p53 mutation is a common genetic event in ovarian carcinoma. Cancer Res 53:2128-2132.
31. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, 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, Kinzler KW (1944) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80.
32. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
33. Orth K, Hung J, Gazdar A, Bowcock A, Mathis JM, Sambrook J (1994) Genetic instability in human ovarian cancer cell lines. Proc Natl Acad Sci USA 91:9495-9499.
34. Palombo F, Gallinari P, Iaccarino I, Lettieri T, Hughes M, D'Arrigo A, Truong O, Hsuan JJ, Jirieny J (1995) GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268:1912-1914.
35. Papadopoulos N, Nicolaides NC, Wei YF, 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-P, de la Chapelle A, Kinzler KW, Vogelstein B (1994) Mutation of a mutL homolog in hereditary colon cancer (see comments). Science 263:1625-1629.
36. Papadopoulos N, Nicolaides NC, Liu B, Parson R, Lengauer C, Palombo F, d'Arrigo A, Markowitz S, Willson JKV, Kinzler KW, Jirincy J, Vogelstein B (1995) Mutations of GTBP in genetically unstable cells. Science 268:1915-1917.
37. Parker S, Tong T, Bolden S, Wingo PA (1996) Cancer Statistics, 1946. CA-A Cancer Journal for Clinicians 46:3-4.
38. Parsons R, Li GM, Longley MJ, Fang WH, Papadopoulos N, Jen J, de la Chapelle A, Kinzler KW, Vogelstein B, Modrich P (1993) Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75:1227-1236.
39. Peltomaki P, Lothe RA, Aaltonen LA, Pylkkanen L, Nystrom-Lahti M, Seruca R, David L, Holm R, Ryberg D, Haugen A, Brogger A, Borresen, A-L, de la Chapelle A (1993) Microsatellite instability is associated with tumours that characterize the hereditary non-polyposis colorectal carcinoma. Cancer Res 53:5853-5855.
40. Risinger J, Berchuck A, Kohler MF, Watson P, Lynch HT, Boyd J (1993) Genetic instability of microsatellites in endometrial carcinoma. Cancer Res 53:5100-5103.
41. Samowitz W, Slattery ML, Kerber RA (1995). Microsatellite instability in human colonic cancer is not a useful indicator of familial colorectal cancer. Gastroenterology 109:1765-1771.
42. Sandkuijl L, Bishop T (1993) Results of the joint analysis of the EUROFAP linkage data: Summary. Copenhagen, EUROFAP.
43. Sondik R, Young J, Horn J, Gloeckler L (1985) Annual Cancer Statistics Review. NIH Publication 86-2789.
44. Szabo C, King MC (1995) Inherited breast and ovarian cancer. Hum Mol Genet 4:1811-1817.
45. Thibodeau S, Bren G, Schaid D (1993) Microsatellite instability in cancer of the proximal colon. Science 260:816-819.
46. Watanabe A, Ikejima M, Suzuki N, Shimada T (1996) Genomic organization and expression of the human msh3 gene. Genomics 31:311-318.
47. Wooster R, Cleton-Jansen AM, Collins N, Mangion J, Cornelis RS, Cooper CS, Gusterson BA, Ponder BA, von Deimling A, Wiestler OD, Cornelisse CJ, Devilee P, Stratton MR (1994) Instability of short tandem repeats (microsatellites) in human cancers. Nature Genet 6:152-156.