Advertisement

Breast Cancer Research and Treatment

, Volume 55, Issue 1, pp 85–89 | Cite as

Mutation analysis of the putative tumor suppression gene PTEN/MMAC1 in sporadic breast cancer

  • Shou‐Tung Chen
  • Shi‐Yau Yu
  • Matty Tsai
  • Kun‐Tu Yeh
  • Jyh‐Chwan Wang
  • Min‐Chih Kao
  • Mu‐Ching Shih
  • Jan‐Gowth Chang
Article

Abstract

PTEN/MMAC1, a potential human tumor suppressor gene, has been found to have inactivating mutations in several types of cancer, including breast cancer. The incidence of breast cancer in Chinese is quite low in comparison with Caucasians, and genetic factors may play some roles. To further determine the role of PTEN/MMAC1 in breast cancer in Chinese, we used loss of heterozygosity (LOH), single strand conformation polymorphism (SSCP) with direct sequencing of variant bands, and Southern blot analysis methods to analyze mutations in PTEN/MMAC1 in 52 cases of breast cancer. None had LOH at chromosome 10q23.3. One mutation was identified, a somatic 3‐base deletion, in one case. Our results suggest PTEN/MMAC1 does not play a major role in the development of sporadic breast cancer.

Chinese mutation analysis PTEN/MMAC1 sporadic breast cancer 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Devilee P, Schuuring E, van de Vijver MJ, Cornelisse CJ: Recent developments in the molecular genetic undertanding of breast cancer. Crit Rev Oncog 5: 247–270, 1995Google Scholar
  2. 2.
    Ronco A, De Stefani B, Mendilaharsu M, Deneo-Pellegrini H: Meat, fat and risk of breast cancer – a case-control study from Uruguay. Int J Cancer 65: 328–331, 1996Google Scholar
  3. 3.
    Ambrosone CB, Freudenheim JL, Graham S, Marshall JR, Vena JE, Brasure JR, Michalek AM, Laughlin R, Nemoto T, Gillenwater K, Harrington AM, Shield PG: Cigarette smoking, N-acetyltransferase 2 genetic polymorphisms, and breast cancer risk. J Am Med Ass 276: 1494–1501, 1996Google Scholar
  4. 4.
    Magnusson C, Baron J, Persson I, Wolk A, Bergstrom R, Trichopoulos D, Adami HO: Body size in different periods of life and breast cancer risk in postmenopausal women. Int J Cancer 76: 29–34, 1998Google Scholar
  5. 5.
    Marshall CJ: Tumor suppressor genes. Cell 64: 313–326, 1991Google Scholar
  6. 6.
    Goddard AD, Solomon B: Genetic aspects of cancer. Advances in Human Genetics, 21: 321–376, 1993Google Scholar
  7. 7.
    Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R: PTEN: A putative protein tyrosine phosphatase gene mutated in human brain, breast and prostate cancer. Science 275: 1943–1947, 1997Google Scholar
  8. 8.
    Steck PA, Pershouse MA, Jasser SA, Yung WKA, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DHF, Tavtigian SV: Identification of a candidate tumor suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 15: 356–362, 1997Google Scholar
  9. 9.
    Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, 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: 333–334, 1997Google Scholar
  10. 10.
    Marsh DJ, Dahia PLM, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C: Germline mutations in PTEN are present in Bannayan–Zonana syndrome. Nat Genet 16: 333–334, 1997Google Scholar
  11. 11.
    Rhei B, Kang L, Bogomolniy F, Federici MG, Borgen PI, Boyd J: Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. Cancer Res 57: 3657–3659, 1997Google Scholar
  12. 12.
    Chan LK, Lam HS, Chan ES, Lau Y, Chan M, Gwi E, Leung TY: Mammogram screening of Chinese women in Kwong Wah Hospital, Hong Kong. Australas Radiol 42: 6–9, 1998Google Scholar
  13. 13.
    Chang JG, Chen CP, Ho HJ, Lin CP, Lee LS, Chen PH: Rapid prenatal diagnosis of Hb Bart's hydrops fetalis in southeast Asia area by polymerase chain reaction. Int J Hematol 56: 155–159, 1992Google Scholar
  14. 14.
    Chang JG, Jong YJ, Wang WP, Wang JC, Hu CJ, Lo MC, Chang CP: Rapid detection of a recombinant hotspot associated with Charcot–Marie–Tooth disease type lA duplication by a PCR-based DNA test. Clin Chem 44: 270–274, 1998Google Scholar
  15. 15.
    Tashiro H, Blazes MS, Wu R, Cho KR, Bose S, Wang SI, Li J, Parsons R, Ellenson LH: Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. Cancer Res 57: 3935–3940, 1997Google Scholar
  16. 16.
    Guldberg P, Straten PT, Birck A, Ahrenkiel V, Kirkin AF, Zeuthen J: Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma. Cancer Res 57: 3660–3663, 1997Google Scholar
  17. 17.
    Wang SI, Puc J, Li J, Bruce JN, Cairns P, Sidransky D, Parsons R: Somatic mutations of PTEN in glioblastoma multiform. Cancer Res 57: 4183–4186, 1997Google Scholar
  18. 18.
    Dahia PLM, Marsh DJ, Zheng Z, Zedenius J, Komminoth P, Frisk T, Wallin G, Parsons R, Longy M, Larsson C, Eng C: Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Cancer Res 57: 4710–4713, 1997Google Scholar
  19. 19.
    Suzuki H, Freile D, Nusskern DR, Okami K, Cairns P, Sidransky D, Isaacs WB, Bova GS: Interfocal heterogeneity of PTEN/MMAC1 gene alterations in multiple metastatic prostate cancer tissues. Cancer Res 58: 204–209, 1998Google Scholar
  20. 20.
    Bostrom J, Cobbers JMJL, Wolter M, Tabatabai G, Weber RG, Lichter P, Collins VP, Reifenberger G: Mutation of the PTEN (MMAC1) tumor suppressor gene in a subset of glioblastomas but not in meningiomas with loss of chromosome arm 10q. Cancer Res 58: 204–209, 1998Google Scholar
  21. 21.
    Cairns P, Okami K, Halachmi S, Halachmi N, Estellar M, Herman JG, Jen J, Isaacs WB, Bova GS, Sidransky D: Frequent inactivation of PTEN/MMAC1 in primary prostate cancer. Cancer Res 57: 4997–5000, 1997Google Scholar
  22. 22.
    Teng DHF, Hu R, Lin H, Davis T, Iliev D, Frye C, Swedlund B, Hansen KL, Vinson VL, Gumpper KL, Ellis L, El-Naggar A, Frazier M, Jasser S, Landgford LA, Lee J, Mills GB, Pershouse MA, Pollack RE, Tornos C, Troncoso P, Yung WKA, Fujii G, Berson A, Bookstein R, Bolen JB, Tavtigian SV, Steck PA: MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines. Cancer Res 57: 5221–5225, 1997Google Scholar
  23. 23.
    Chen YJ, Chen PH, Lee MD, Chang JG: Aberrant FHIT transcripts in cancerous and corresponding non-cancerous lesions of the digestive tract. Int J Cancer 72: 955–958, 1997Google Scholar
  24. 24.
    Chang JG, Jong YJ, Huang JM, Wang WS, Yang TY, Chang CP, Chang TJ, Lin SP: Molecular basis of spinal muscular atrophy in Chinese. Am J Hum Genet 57: 1503–1505, 1995Google Scholar
  25. 25.
    Radford D, Fair K, Phillips N, Ritter J, Steinbrueck T, Holt M, Donis-Keller H: Allelotyping of ductal carcinoma in situ of the breast: Deletion of loci on 8p, 13q, 16q, l7p, and 17q. Cancer Res 55: 3399–3405, 1995Google Scholar
  26. 26.
    Fujii H, Marsh C, Cairns P, Sidransky D, Gabrielson E: Genetic divergence in the clonal evolution of breast cancer. Cancer Res 56: 1493–1497, 1996Google Scholar
  27. 27.
    Fujii H, Szumel R, Marsh C, Zhou W, Gabrielson E: Genetic progression, histological grade, and allelic loss in ductal carcinoma in situ of the breast. Cancer Res 56: 5260–5265, 1996Google Scholar
  28. 28.
    Kerangueven F, Noguchi T, Coulier F, Allione F, Wargniez V, Simony-Lafontaine J, Longy M, Jacquemier J, Sobol H, Eisinger F, Birnbaum D: Genome-wide search for loss of heterozygosity shows extensive genetic diversity of human breast carcinomas. Cancer Res 57: 5469–5474, 1997Google Scholar
  29. 29.
    Marsh DJ et al.: Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan–Zonana syndrome: two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7: 507–515, 1998Google Scholar
  30. 30.
    Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, Swisshelm K, Suchand D, MacLead PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Miller P, King M: Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis. Am J Hum Genet 61: 1254–1260, 1997Google Scholar

Copyright information

© Kluwer Academic Publishers 1999

Authors and Affiliations

  • Shou‐Tung Chen
    • 1
  • Shi‐Yau Yu
    • 2
  • Matty Tsai
    • 1
  • Kun‐Tu Yeh
    • 3
  • Jyh‐Chwan Wang
    • 1
  • Min‐Chih Kao
    • 1
  • Mu‐Ching Shih
    • 4
  • Jan‐Gowth Chang
    • 1
  1. 1.Division of Molecular Medicine, Department of Medical ResearchChina Medical College HospitalTaichungTaiwan
  2. 2.Department of SurgeryChang‐Hwa Christian HospitalChang‐HwaTaiwan
  3. 3.Department of PathologyChang‐Hwa Christian HospitalChang‐HwaTaiwan
  4. 4.Department of Laboratory MedicineChang‐Hwa Christian HospitalChang‐HwaTaiwan

Personalised recommendations