The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.

British journal of cancer ·Vol. 76 ·No. 2 ·1997-00-00 ·Pages 141-5

Cowan R, Hoban P, Kelsey A, Birch JM, Gattamaneni R, Evans DG

Abstract

Individuals with naevoid basal cell carcinoma (Gorlin) syndrome are at increased risk of developing medulloblastoma in childhood. We have shown that approximately 5% of patients with Gorlin syndrome will develop this complication in the first few years of life, and in addition 10% of patients with medulloblastoma diagnosed at age 2 years or under have Gorlin syndrome. One out of three medulloblastomas occurring in patients with Gorlin syndrome was shown to have lost the wild-type allele on 9q, indicating that the Gorlin locus probably acts as a tumour suppressor in the development of this tumour. We have also confirmed this role in a basal cell carcinoma (BCC) from the same individual. Information from these families would suggest that Gorlin syndrome is more common than previously recognized and may not always be diagnosed on clinical grounds alone even in middle life.

MeSH Terms

Basal Cell Nevus Syndrome/complications,genetics,pathology Cerebellar Neoplasms/complications,genetics,pathology Child Child, Preschool Chromosomes, Human, Pair 9 Female Genes, Tumor Suppressor/genetics Genetic Linkage Heterozygote Humans Infant Male Medulloblastoma/complications,genetics,pathology Microsatellite Repeats Pedigree

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Cowan R

CRC Department of Cancer Genetics, Christie Hospital, Manchester, UK.

Hoban P

Kelsey A

Birch J M

Gattamaneni R

Evans D G

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Article Info

Journal

British journal of cancer

Abbr.

Br J Cancer

ISSN

0007-0920

DOI

10.1038/bjc.1997.354

Published

1997-00-00

Pages

141-5

Language

English

Region

England

NLM ID

0370635

PMCID

PMC2223943

Subset

External Links

PubMed source DOI: 10.1038/bjc.1997.354 PMC Full Text View journal details

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The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.

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