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

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 extracutane...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 1997-06, Vol.57 (12), p.2369-2372
Main Authors: XIE, J, JOHNSON, R. L, EPSTEIN, E. H, ZHANG, X, BARE, J. W, WALDMAN, F. M, COGEN, P. H, MENON, A. G, WARREN, R. S, CHEN, L.-C, SCOTT, M. P
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Basal Cell Nevus Syndrome - genetics
Base Sequence
Biological and medical sciences
Breast Neoplasms - genetics
Chromosome Deletion
Chromosomes, Human, Pair 9 - genetics
Colonic Neoplasms - genetics
Drosophila Proteins
Epidemiology
Female
Heterozygote
Humans
Insect Proteins - genetics
Medical sciences
Medulloblastoma - genetics
Membrane Proteins - genetics
Meningioma - genetics
Mutation
Receptors, Cell Surface
Tumor Cells, Cultured
Tumors
Urinary Bladder Neoplasms - genetics
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Summary: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.
ISSN:0008-5472
1538-7445