Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1998 Nov;35(11):886–889. doi: 10.1136/jmg.35.11.886

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

M Longy 1, V Coulon 1, B Duboué 1, A David 1, M Larrègue 1, C Eng 1, P Amati 1, J L Kraimps 1, A Bottani 1, D Lacombe 1, D Bonneau 1
PMCID: PMC1051478  PMID: 9832032

Abstract

We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.

Full text

PDF
886

Images in this article

888Image
on p.888

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arch E. M., Goodman B. K., Van Wesep R. A., Liaw D., Clarke K., Parsons R., McKusick V. A., Geraghty M. T. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet. 1997 Sep 5;71(4):489–493. [PubMed] [Google Scholar]
  2. Cohen M. M., Jr Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. Am J Med Genet. 1990 Feb;35(2):291–292. doi: 10.1002/ajmg.1320350231. [DOI] [PubMed] [Google Scholar]
  3. Fargnoli M. C., Orlow S. J., Semel-Concepcion J., Bolognia J. L. Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. Arch Dermatol. 1996 Oct;132(10):1214–1218. [PubMed] [Google Scholar]
  4. Ittmann M. Allelic loss on chromosome 10 in prostate adenocarcinoma. Cancer Res. 1996 May 1;56(9):2143–2147. [PubMed] [Google Scholar]
  5. Kong D., Suzuki A., Zou T. T., Sakurada A., Kemp L. W., Wakatsuki S., Yokoyama T., Yamakawa H., Furukawa T., Sato M. PTEN1 is frequently mutated in primary endometrial carcinomas. Nat Genet. 1997 Oct;17(2):143–144. doi: 10.1038/ng1097-143. [DOI] [PubMed] [Google Scholar]
  6. Li D. M., Sun H. TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. Cancer Res. 1997 Jun 1;57(11):2124–2129. [PubMed] [Google Scholar]
  7. Li J., Yen C., Liaw D., Podsypanina K., Bose S., Wang S. I., Puc J., Miliaresis C., Rodgers L., McCombie R. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science. 1997 Mar 28;275(5308):1943–1947. doi: 10.1126/science.275.5308.1943. [DOI] [PubMed] [Google Scholar]
  8. 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. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997 May;16(1):64–67. doi: 10.1038/ng0597-64. [DOI] [PubMed] [Google Scholar]
  9. 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. 1997 Aug;16(4):333–334. doi: 10.1038/ng0897-333. [DOI] [PubMed] [Google Scholar]
  10. Marsh D. J., Zheng Z., Zedenius J., Kremer H., Padberg G. W., Larsson C., Longy M., Eng C. Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas. Cancer Res. 1997 Feb 1;57(3):500–503. [PubMed] [Google Scholar]
  11. Nelen M. R., van Staveren W. C., Peeters E. A., Hassel M. B., Gorlin R. J., Hamm H., Lindboe C. F., Fryns J. P., Sijmons R. H., Woods D. G. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet. 1997 Aug;6(8):1383–1387. doi: 10.1093/hmg/6.8.1383. [DOI] [PubMed] [Google Scholar]
  12. Starink T. M., van der Veen J. P., Arwert F., de Waal L. P., de Lange G. G., Gille J. J., Eriksson A. W. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet. 1986 Mar;29(3):222–233. doi: 10.1111/j.1399-0004.1986.tb00816.x. [DOI] [PubMed] [Google Scholar]
  13. Steck P. A., Pershouse M. A., Jasser S. A., Yung W. K., Lin H., Ligon A. H., Langford L. A., Baumgard M. L., Hattier T., Davis T. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet. 1997 Apr;15(4):356–362. doi: 10.1038/ng0497-356. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES