Somatic mutation of the PTEN/MMAC1 gene in breast cancers with microsatellite instability

Cancer Letters

Volumn 144, Issue 1, 1999, Pages 9-16

  Minobe, Kaori ^a,b   Bando, Koichi ^a,b   Fukino, Koichi ^a   Soma, Sachi ^a   Kasumi, Fujio ^c   Sakamoto, Goi ^c   Furukawa, Kiyonori ^b   Higuchi, Katsuyoshi ^b   Onda, Masahiko ^b   Nakamura, Yusuke ^d   Emi, Mitsuru ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b NIPPON MEDICAL SCHOOL HOSPITAL   (Japan)

^c CANCER INSTITUTE HOSPITAL   (Japan)

^d THE UNIVERSITY OF TOKYO   (Japan)

Author keywords

Breast cancer; Microsatellite instability; PTEN MMAC1 gene; Replication error phenotype

Indexed keywords

MARKER;

ARTICLE; BREAST CANCER; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

BREAST NEOPLASMS; FEMALE; HUMANS; MICROSATELLITE REPEATS; MUTATION; PHOSPHORIC MONOESTER HYDROLASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEINS;

EID: 0032815405     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3835(99)00181-0     Document Type: Article

References (35)

1. Callahan R., Campbell G. Mutations in human breast cancer: an overview. J. Natl. Cancer Inst. 81:1989;1780-1786.
2. Weinberg R.A. Tumor suppressor genes. Science. 254:1991;1138-1146.
3. Knudson A.G. Antioncogenes and human cancer. Proc. Natl. Acad. Sci. USA. 90:1993;10914-10921.
4. Peltomaki P., Aaltonen L.A., Sistonen P., Pylkkanen L., Mecklin J.-P., Jarvinen H., Green J.S., Jass J.R., Weber J.L., Leach F.S., Peterson G.M., Hamilton S.R., Chapelle A., Vogelstein B. Genetic mapping of a locus predisposing to human colorectal cancer. Science. 260:1993;810-812.
5. Aaltonen L.A., Peltomaki P., Leach F.S., Sistonen P., Pylkkanen L., Mecklin J.-P., Jarvinen H., Powell S.M., Jen J., Hamilton S.R., Peterson G.M., Kintzler K.W., Vogelstein B., Chapelle A. Clues to the pathogenesis of familial colorectal cancer. Science. 260:1993;812-816.
6. Jiricny J. Mismatch repair and cancer. Cancer Surv. Genet. Instability Cancer. 28:1996;47-68.
7. Fishel R., Lescoe M.K., Rao M.R.S., Copeland N.G., Jenkins N.A., Garber J., Kane M., Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary non-polyposis colon cancer. Cell. 75:1993;1027-1038.
8. Leach F.S., Nicolaides N.C., Papadopoulos N., Liu B., Jen J., Parsons R., Peltomaki P., Sistonen P., Aaltonen L.A., Nystrom-Lahti M., Guan X.-Y., Zhang J., Meltzer P.S., Yu J.-W., Kao F.-T., Chen D.J., Cerosaletti K.M., Fournier R.E.K., Todd S., Lewis T., Leach R.J., Naylor S.L., Weissenbach J., Mecklin J.-P., Jarvinen H., Peterson G.M., Hamilton S.R., Green J., Jass J., Watson P., Lynch H.T., Trent J.M., Chapelle A., Kintzler K.W., Vogelstein B. Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer. Cell. 75:1993;1215-1225.
9. Sato T., Tanigami A., Yamakawa K., Akiyama F., Kasumi F., Sakamoto G., Nakamura Y. Allelotype of breast cancer: Cumulative allele losses promote tumor progression in primary breast cancer. Cancer Res. 50:1990;7184-7189.
10. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Genethon human genetic linkage map. Nat. Genet. 7:1994;246-339.
11. Iida A., Isobe R., Yoshimoto M., Kasumi F., Nakamura Y., Emi M. Localization of a breast cancer tumor suppressor gene to a 3-cM interval within chromosomal region 16q22. Br. J. Cancer. 75:1997;264-267.
12. Hirayama T., Yamaki E., Hata A., Tsuji M., Hashimoto K., Yamamoto M., Emi M. Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. J. Hum. Genet. 43:1998;250-254.
13. Paulson T.G., Wright F.A., Parker B.A., Russack V., Wah G.M. Microsatellite instability correlates with reduced survival and poor disease prognosis in breast cancer. Cancer Res. 56:1996;4021-4026.
14. Patel U., Grundfest-Broniatowski S., Gupta M., Banerjee S. Microsatellite instability at five chromosomes in primary breast tumors. Oncogene. 9:1994;3695-3700.
15. Takita K., Sato T., Miyagi M., Watatani M., Akiyama F., Sakamoto G., Kasumi F., Abe R., Nakamura Y. Correlation of loss of alleles on the short arms of chromosomes 11 and 17 with metastasis of primary breast cancer to lymph nodes. Cancer Res. 52:1992;3914-3917.
16. Yee C.J., Roodi N., Verrier C.S., Parl F.F. Microsatellite instability and loss of heterozygosity in breast cancer. Cancer Res. 54:1994;1641-1644.
17. Contegiacomo A., et al. Microsatellite instability and pathological aspects of breast cancer. Int. J. Cancer (Pred. Oncol.). 64:1995;264-268.
18. Toyama T., et al. Microsatellite instability in sporadic human breast cancers. Int. J. Cancer. 68:1996;447-451.
19. Lu S.-L., Akiyama Y., Nagasaki H., Saitoh K., Yuasa Y. Mutations of the transforming growth factor-beta type2 receptor gene and genomic instability in hereditary nonpolyposis colorectal cancer. Biochem. Biophys. Res. Commun. 216:1995;452-457.
20. Parsons R., Myeroff L.L., Liu B., Willson J.K.V., Markowutz S.D., Kinzler K.W., Vogelstein B. Microsatellite instability and mutations of the transforming growth factor beta type2 receptor gene in colorectal cancer. Cancer Res. 55:1995;5548-5550.
21. Markowitz S., Wang J., Myeroff L., Parsons R., Sun L., Lutterbaugh J., Fan R.S., Zborowska E., Kinzler K.W., Vogelstein B., Brattain M., Willson J.K.V. Inactivation of the type2 TGF-beta receptor in colon cancer cells with microsatellite instability. Science. 268:1995;1336-1338.
22. Myeroff L.L., Parsons R., Kim S.-J., Hedrick L., Cho K.R., Orth K., Mathis M., Kinzler K.W., Lutterbaugh J., Park K., Bang Y.-J., Lee H.Y., Park J.-G., Lynch H.T., Roberts A.B., Vogelstein B., Markowitz S.D. A transforming growth factor receptor type2 gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability. Cancer Res. 55:1995;5545-5547.
23. Ouyang H., Shiwaku H.O., Hagiwara H., Miura K., Abe T., Kato Y., Ohtani H., Shiiba K., Souza R.F., Meltzer S.J., Horii A. The insulin-like Growth Factor 2 Receptor gene is mutated in genetically unstable cancers of the endometrium, stomach, and colorectum. Cancer Res. 57:1997;1851-1854.
24. Souza R., Apple R., Yin J., Wang S., Smolinski K.N., Abraham J.M., Zou T.-T., Shi Y.-Q., Lei J., Cottrell J., Cymes K., Biden K., Simms L., Leggett B., Lynch P.M., Frazier M., Powell S.M., Harpaz N., Sugimura H., Young J., Metzer S.J. Microsatellite instability in the insulin-like growth factor 2 receptor gene in gastrointestinal tumours. Nat. Genet. 14:1996;255-257.
25. Malkhosyan S., Rampino N., Perucho M. Frameshift mutator mutations. Nature. 382:1996;499-500.
26. Akiyama Y., Sato H., Yamada T., Nagasaki H., Tsuchiya A., Abe R., Yuasa Y. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res. 57:1997;3920-3923.
27. Rampino N., Yamamoto H., Ionov Y., Li Y., Sawai H., Reed J.C., Perucho M. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science. 275:1997;967-969.
28. Liaw D., Marsh D.J., Li J., Dahia P.L., Wang S.I., Zheng Z., Bose S., Call K.M., Tsou H.C., Peacocke M., Eng C., Parsons R. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat. Genet. 16:1997;64-67.
29. Li J., Yen C., Liaw D., Podsypanina K., Bose S., Wang S.I., Puc J., Miliaresis C., Rodgers L., McCombie R., Bigner S.H., Giovanella B.C., Ittmann M., Tycko B., Hibshoosh H., Wigler M.H., Parsons R. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science. 275:1997;1943-1947.
30. Steck P.A., Pershouse M.A., Jasser S.A., Yung W.K.A., Lin H., Ligon A.H., Langford L.A., Baumgard M.L., Hattier T., Davis T., Frye C., Hu R., Swedlund B., Teng D.H.F., Tavtigian S.V. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat. Genet. 15:1997;356-362.
31. Risinger J.I., Hayes A.K., Berchuck A., Barrett J.C. PTEN/MMAC1 mutations in endometrial cancers. Cancer Res. 57:1997;4736-4738.
32. Kurose K., Bando K., Fukino K., Sugisaki Y., Araki T., Emi M. Somatic mutation of the PTEN/MMAC1 gene in fifteen Japanese endometrial cancers: evidence for inactivation of both alleles. Jpn. J. Cancer Res. 89:1998;842-848.
33. Rhei E., Kang L., Bogomolniy F., Federici M.G., Borgen P.I., Boyd J. Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. Cancer Res. 57:1997;3657-3659.
34. Ueda K., Nishijima M., Inui H., Watatani M., Yayoi E., Okamura J., Yasutomi M., Nakamura Y., Miyoshi Y. Infrequent mutations in the PTEN/MMAC1 gene among primary breast cancers. Jpn. J. Cancer Res. 89:1998;17-21.
35. Marsh D.J., Dahia P.L., Zheng Z., Liaw D., Parsons R., Gorlin R.J., Eng C. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat. Genet. 16:1997;333-334.