Nevoid basal cell carcinoma syndrome
- PMID: 7963674
- DOI: 10.1111/1523-1747.ep12399438
Nevoid basal cell carcinoma syndrome
Abstract
The nevoid basal cell carcinoma syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. Unlike other hereditary disorders associated with cancer, it features widespread developmental defects. Laboratory studies of radiation sensitivity and chromosome instability over the past 20 years have generally yielded negative or inconclusive results. Recently, screening for allelic loss in sporadic and hereditary basal cell carcinomas, hereditary ovarian fibromas, and sporadic medulloblastomas provided evidence for a tumor suppressor gene on chromosome 9q, important in all three tumor types. Demonstration of a chromosome 9q deletion in an unusual patient with this syndrome and genetic linkage studies in large kindreds indicated that the nevoid basal cell carcinoma syndrome gene maps to the exact same location lost in tumors. These data show that tumors arise with homozygous inactivation of the gene and imply that it normally functions as a tumor suppressor. In contrast, hemizygous germ-line mutations lead to multiple congenital anomalies.
Similar articles
-
Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.Am J Hum Genet. 1996 Aug;59(2):417-22. Am J Hum Genet. 1996. PMID: 8755929 Free PMC article.
-
The nevoid basal cell carcinoma syndrome: genetics and mechanism of carcinogenesis.Cancer Invest. 1997;15(2):180-6. doi: 10.3109/07357909709115772. Cancer Invest. 1997. PMID: 9095215 Review.
-
Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.Cell. 1992 Apr 3;69(1):111-7. doi: 10.1016/0092-8674(92)90122-s. Cell. 1992. PMID: 1348213
-
Fine mapping of the locus for nevoid basal cell carcinoma syndrome on chromosome 9q.Acta Derm Venereol. 1997 Jan;77(1):4-9. doi: 10.2340/0001555577004009. Acta Derm Venereol. 1997. PMID: 9059667
-
[From gene to disease: basal cell naevus syndrome].Ned Tijdschr Geneeskd. 2005 Jan 8;149(2):78-81. Ned Tijdschr Geneeskd. 2005. PMID: 15688838 Review. Dutch.
Cited by
-
Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature review.Diagn Pathol. 2023 Oct 31;18(1):118. doi: 10.1186/s13000-023-01406-9. Diagn Pathol. 2023. PMID: 37907964 Free PMC article. Review.
-
Hedgehog signaling in endocrine and folliculo-stellate cells of the adult pituitary.J Endocrinol. 2021 Mar;248(3):303-316. doi: 10.1530/JOE-20-0388. J Endocrinol. 2021. PMID: 33480359 Free PMC article.
-
Hedgehog signaling activation induces stem cell proliferation and hormone release in the adult pituitary gland.Sci Rep. 2016 Apr 25;6:24928. doi: 10.1038/srep24928. Sci Rep. 2016. PMID: 27109116 Free PMC article.
-
[Basal cell carcinoma and rare form variants].Pathologe. 2014 Sep;35(5):433-42. doi: 10.1007/s00292-014-1930-2. Pathologe. 2014. PMID: 25096987 Review. German.
-
Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.Am J Hum Genet. 1996 Aug;59(2):417-22. Am J Hum Genet. 1996. PMID: 8755929 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous
