Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors

Jingwu Xie, Ronald L. Johnson, Xiaoli Zhang, John W. Bare, Fred M. Waldman, Philip H. Cogen, Anil G. Menon, Robert S. Warren, Ling Chun Chen, Matthew P. Scott, Ervin H. Epstein

Research output: Contribution to journalArticle

264 Citations (Scopus)

Abstract

Patients with basal cell nevus syndrome have a high incidence of multiple basal cell carcinomas, medulloblastomas, and meningiomas. Because somatic PATCHED (PTCH) mutations have been found in sporadic basal cell carcinomas, we have screened for PTCH mutations in several types of sporadic extracutaneous tumors. We found that 2 of 14 sporadic medulloblastomas bear somatic nonsense mutations in one copy of the gene and also deletion of the other copy. In addition, we identified missense mutations in PTCH in two of seven breast carcinomas, one of nine meningiomas, and one colon cancer cell line. No PTCH gene mutations were detected in 10 primary colon carcinomas and eighteen bladder carcinomas.

Original languageEnglish (US)
Pages (from-to)2369-2372
Number of pages4
JournalCancer Research
Volume57
Issue number12
StatePublished - Jun 15 1997
Externally publishedYes

Fingerprint

Medulloblastoma
Meningioma
Mutation
Basal Cell Nevus Syndrome
Genes
Carcinoma
Neoplasms
Nonsense Codon
Basal Cell Carcinoma
Gene Deletion
Missense Mutation
Colonic Neoplasms
Colon
Urinary Bladder
Breast Neoplasms
Cell Line
Incidence
Multiple basal cell carcinoma

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Xie, J., Johnson, R. L., Zhang, X., Bare, J. W., Waldman, F. M., Cogen, P. H., ... Epstein, E. H. (1997). Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Research, 57(12), 2369-2372.

Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. / Xie, Jingwu; Johnson, Ronald L.; Zhang, Xiaoli; Bare, John W.; Waldman, Fred M.; Cogen, Philip H.; Menon, Anil G.; Warren, Robert S.; Chen, Ling Chun; Scott, Matthew P.; Epstein, Ervin H.

In: Cancer Research, Vol. 57, No. 12, 15.06.1997, p. 2369-2372.

Research output: Contribution to journalArticle

Xie, J, Johnson, RL, Zhang, X, Bare, JW, Waldman, FM, Cogen, PH, Menon, AG, Warren, RS, Chen, LC, Scott, MP & Epstein, EH 1997, 'Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors', Cancer Research, vol. 57, no. 12, pp. 2369-2372.
Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH et al. Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Research. 1997 Jun 15;57(12):2369-2372.
Xie, Jingwu ; Johnson, Ronald L. ; Zhang, Xiaoli ; Bare, John W. ; Waldman, Fred M. ; Cogen, Philip H. ; Menon, Anil G. ; Warren, Robert S. ; Chen, Ling Chun ; Scott, Matthew P. ; Epstein, Ervin H. / Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. In: Cancer Research. 1997 ; Vol. 57, No. 12. pp. 2369-2372.
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