Birt-Hogg-Dubé (BHD) gene mutations in human gastric cancer with high frequency microsatellite instability

Cancer Letters

Volumn 248, Issue 1, 2007, Pages 103-111

  Jiang, Wenquan ^a   Fujii, Hiroaki ^a   Matsumoto, Toshiharu ^a   Ohtsuji, Naomi ^a   Tsurumaru, Masahiko ^a   Hino, Okio ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

BAX; Birt Hogg Dub ; Gastric cancer; Microsatellite instability; Mutation; Target gene

Indexed keywords

PROTEIN BAX; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADULT; AGED; ARTICLE; BIRT HOGG DUBE SYNDROME; CANCER GENETICS; CLINICAL ARTICLE; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; GENODERMATOSIS; HAMARTOMA; HUMAN; KIDNEY TUMOR; MALE; MICROSATELLITE INSTABILITY; PNEUMOTHORAX; PRIORITY JOURNAL; RISK FACTOR; STOMACH CANCER;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; BCL-2-ASSOCIATED X PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE FREQUENCY; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; NEOPLASM STAGING; POLY C; PROTEINS; PROTO-ONCOGENE PROTEINS; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; STOMACH NEOPLASMS; TUMOR SUPPRESSOR PROTEINS;

EID: 33847299597     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.canlet.2006.06.005     Document Type: Article

References (52)

1. Birt A.R., Hogg G.R., and Dube W.J. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch. Dermatol. 113 (1977) 1674-1677
2. Khoo S.K., Giraud S., Kahnoski K., Chen J., Motorna O., Nickolov R., et al. Clinical and genetic studies of Birt-Hogg-Dube syndrome. J. Med. Genet. 39 (2002) 906-912
3. Roth J.S., Rabinowitz A.D., Benson M., and Grossman M.E. Bilateral renal cell carcinoma in the Birt-Hogg-Dube syndrome. J. Am. Acad. Dermatol. 29 (1993) 1055-1056
4. Toro J.R., Glenn G., Duray P., Darling T., Weirich G., Zbar B., et al. Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia. Arch. Dermatol. 135 (1999) 1195-1202
5. Khoo S.K., Bradley M., Wong F.K., Hedblad M.A., Nordenskjold M., and Teh B.T. Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 20 (2001) 5239-5242
6. Nickerson M.L., Warren M.B., Toro J.R., Matrosova V., Glenn G., Turner M.L., et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2 (2002) 157-164
7. Schmidt L.S., Warren M.B., Nickerson M.L., Weirich G., Matrosova V., Toro J.R., et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am. J. Hum. Genet. 69 (2001) 876-882
8. Schmidt L.S., Nickerson M.L., Warren M.B., Glenn G.M., Toro J.R., Merino M.J., et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am. J. Hum. Genet. 76 (2005) 1023-1033
9. Okimoto K., Kouchi M., Matsumoto I., Sakurai J., Kobayashi T., and Hino O. Natural history of the Nihon rat model of BHD. Curr. Mol. Med. 4 (2004) 887-893
10. Vocke C.D., Yang Y., Pavlovich C.P., Schmidt L.S., Nickerson M.L., Torres-Cabala C.A., et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J. Natl. Cancer Inst. 97 (2005) 931-935
11. Lingaas F., Comstock K.E., Kirkness E.F., Sorensen A., Aarskaug T., Hitte C., et al. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum. Mol. Genet. 12 (2003) 3043-3053
12. Okimoto K., Sakurai J., Kobayashi T., Mitani H., Hirayama Y., Nickerson M.L., et al. A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc. Natl. Acad. Sci. USA 101 (2004) 2023-2027
13. Shin J.H., Shin Y.K., Ku J.L., Jeong S.Y., Hong S.H., Park S.Y., et al. Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability. J. Med. Genet. 40 (2003) 364-367
14. da Silva N.F., Gentle D., Hesson L.B., Morton D.G., Latif F., and Maher E.R. Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J. Med. Genet. 40 (2003) 820-824
15. Kahnoski K., Khoo S.K., Nassif N.T., Chen J., Lobo G.P., Segelov E., et al. Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours. J. Med. Genet. 40 (2003) 511-515
16. Boland C.R., Thibodeau S.N., Hamilton S.R., Sidransky D., Eshleman J.R., Burt R.W., et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 58 (1998) 5248-5257
17. Duval A., and Hamelin R. Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability. Cancer Res. 62 (2002) 2447-2454
18. Ionov Y., Peinado M.A., Malkhosyan S., Shibata D., and Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363 (1993) 558-561
19. Markowitz S., Wang J., Myeroff L., Parsons R., Sun L., Lutterbaugh J., et al. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 268 (1995) 1336-1338
20. Myeroff L.L., Parsons R., Kim S.J., Hedrick L., Cho K.R., Orth K., et al. A transforming growth factor beta receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability. Cancer Res. 55 (1995) 5545-5547
21. Ouyang H., Furukawa T., Abe T., Kato Y., and Horii A. The BAX gene, the promoter of apoptosis, is mutated in genetically unstable cancers of the colorectum, stomach, and endometrium. Clin. Cancer Res. 4 (1998) 1071-1074
22. Ouyang H., Shiwaku H.O., Hagiwara H., Miura K., Abe T., Kato Y., et al. The insulin-like growth factor II receptor gene is mutated in genetically unstable cancers of the endometrium, stomach, and colorectum. Cancer Res. 57 (1997) 1851-1854
23. Piao Z., Fang W., Malkhosyan S., Kim H., Horii A., Perucho M., et al. Frequent frameshift mutations of RIZ in sporadic gastrointestinal and endometrial carcinomas with microsatellite instability. Cancer Res. 60 (2000) 4701-4704
24. Rampino N., Yamamoto H., Ionov Y., Li Y., Sawai H., Reed J.C., et al. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science 275 (1997) 967-969
25. Schwartz Jr. S., Yamamoto H., Navarro M., Maestro M., Reventos J., and Perucho M. Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res. 59 (1999) 2995-3002
26. Yamamoto H., Sawai H., and Perucho M. Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res. 57 (1997) 4420-4426
27. Duval A., Reperant M., Compoint A., Seruca R., Ranzani G.N., Iacopetta B., et al. Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency. Cancer Res. 62 (2002) 1609-1612
28. Woerner S.M., Benner A., Sutter C., Schiller M., Yuan Y.P., Keller G., et al. Pathogenesis of DNA repair-deficient cancers: a statistical meta-analysis of putative Real Common Target genes. Oncogene 22 (2003) 2226-2235
29. Chung Y.J., Song J.M., Lee J.Y., Jung Y.T., Seo E.J., Choi S.W., et al. Microsatellite instability-associated mutations associate preferentially with the intestinal type of primary gastric carcinomas in a high-risk population. Cancer Res. 56 (1996) 4662-4665
30. Luinetti O., Fiocca R., Villani L., Alberizzi P., Ranzani G.N., and Solcia E. Genetic pattern, histological structure, and cellular phenotype in early and advanced gastric cancers: evidence for structure-related genetic subsets and for loss of glandular structure during progression of some tumors. Hum. Pathol. 29 (1998) 702-709
31. Rhyu M.G., Park W.S., and Meltzer S.J. Microsatellite instability occurs frequently in human gastric carcinoma. Oncogene 9 (1994) 29-32
32. Seruca R., Santos N.R., David L., Constancia M., Barroca H., Carneiro F., et al. Sporadic gastric carcinomas with microsatellite instability display a particular clinicopathologic profile. Int. J. Cancer 64 (1995) 32-36
33. Wirtz H.C., Muller W., Noguchi T., Scheven M., Ruschoff J., Hommel G., et al. Prognostic value and clinicopathological profile of microsatellite instability in gastric cancer. Clin. Cancer Res. 4 (1998) 1749-1754
34. Nakashima H., Inoue H., Mori M., Ueo H., Ikeda M., and Akiyoshi T. Microsatellite instability in Japanese gastric cancer. Cancer 75 (1995) 1503-1507
35. Suzuki H., Itoh F., Toyota M., Kikuchi T., Kakiuchi H., Hinoda Y., et al. Distinct methylation pattern and microsatellite instability in sporadic gastric cancer. Int. J. Cancer 83 (1999) 309-313
36. Catasus L., Matias-Guiu X., Machin P., Munoz J., and Prat J. BAX somatic frameshift mutations in endometrioid adenocarcinomas of the endometrium: evidence for a tumor progression role in endometrial carcinomas with microsatellite instability. Lab. Invest. 78 (1998) 1439-1444
37. Catasus L., Matias-Guiu X., Machin P., Zannoni G.F., Scambia G., Benedetti-Panici P., et al. Frameshift mutations at coding mononucleotide repeat microsatellites in endometrial carcinoma with microsatellite instability. Cancer 88 (2000) 2290-2297
38. Gurin C.C., Federici M.G., Kang L., and Boyd J. Causes and consequences of microsatellite instability in endometrial carcinoma. Cancer Res. 59 (1999) 462-466
39. Bacani J., Zwingerman R., Di Nicola N., Spencer S., Wegrynowski T., Mitchell K., et al. Tumor microsatellite instability in early onset gastric cancer. J. Mol. Diagn. 7 (2005) 465-477
40. Dietmaier W., Wallinger S., Bocker T., Kullmann F., Fishel R., and Ruschoff J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res. 57 (1997) 4749-4756
41. Halling K.C., Harper J., Moskaluk C.A., Thibodeau S.N., Petroni G.R., Yustein A.S., et al. Origin of microsatellite instability in gastric cancer. Am. J. Pathol. 155 (1999) 205-211
42. Kim H.S., Lee B.L., Woo D.K., Bae S.I., and Kim W.H. Assessment of markers for the identification of microsatellite instability phenotype in gastric neoplasms. Cancer Lett 164 (2001) 61-68
43. Perucho M. Correspondence re: C.R. Boland et al., A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 58 (1998) 5248-5257. Cancer Res. 59 (1999) 249-56.
44. Fleisher A.S., Esteller M., Wang S., Tamura G., Suzuki H., Yin J., et al. Hypermethylation of the hMLH1 gene promoter in human gastric cancers with microsatellite instability. Cancer Res. 59 (1999) 1090-1095
45. Leung S.Y., Yuen S.T., Chung L.P., Chu K.M., Chan A.S., and Ho J.C. hMLH1 promoter methylation and lack of hMLH1 expression in sporadic gastric carcinomas with high-frequency microsatellite instability. Cancer Res. 59 (1999) 159-164
46. Kim J.J., Baek M.J., Kim L., Kim N.G., Lee Y.C., Song S.Y., et al. Accumulated frameshift mutations at coding nucleotide repeats during the progression of gastric carcinoma with microsatellite instability. Lab. Invest. 79 (1999) 1113-1120
47. Oliveira C., Seruca R., Seixas M., and Sobrinho-Simoes M. The clinicopathological features of gastric carcinomas with microsatellite instability may be mediated by mutations of different "target genes": a study of the TGFbeta RII, IGFII R, and BAX genes. Am. J. Pathol. 153 (1998) 1211-1219
48. Yamamoto H., Perez-Piteira J., Yoshida T., Terada M., Itoh F., Imai K., et al. Gastric cancers of the microsatellite mutator phenotype display characteristic genetic and clinical features. Gastroenterology 116 (1999) 1348-1357
49. Chung Y.J., Park S.W., Song J.M., Lee K.Y., Seo E.J., Choi S.W., et al. Evidence of genetic progression in human gastric carcinomas with microsatellite instability. Oncogene 15 (1997) 1719-1726
50. Furlan D., Casati B., Cerutti R., Facco C., Terracciano L., Capella C., et al. Genetic progression in sporadic endometrial and gastrointestinal cancers with high microsatellite instability. J. Pathol. 197 (2002) 603-609
51. Warren M.B., Torres-Cabala C.A., Turner M.L., Merino M.J., Matrosova V.Y., Nickerson M.L., et al. Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues. Mod. Pathol. 17 (2004) 998-1011
52. Lauren P. The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification. Acta Pathol. Microbiol. Scand. 64 (1965) 31-49