Van gen naar ziekte; basaalcelnaevussyndroom

T. G. J. de Meij; M. J. H. Baars; J. J. P. Gille; W. W. M. Hack; K. Haasnoot; J. M. van Hagen

Van gen naar ziekte; basaalcelnaevussyndroom

Translated title of the contribution: From gene to disease: basal cell naevus syndrome

T. G. J. de Meij, M. J. H. Baars, J. J. P. Gille, W. W. M. Hack, K. Haasnoot, J. M. van Hagen

Research output: Contribution to journal › Article › Professional

7 Citations (Scopus)

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies. Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene. Early recognition and careful follow-up are needed. Guidelines for managing these patients are presented

Translated title of the contribution	From gene to disease: basal cell naevus syndrome
Original language	Dutch
Pages (from-to)	78-81
Number of pages	4
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	149
Issue number	2
Publication status	Published - 8 Jan 2005

Keywords

Basal Cell Nevus Syndrome/genetics
Chromosomes, Human, Pair 9/genetics
Genes, Tumor Suppressor
Germ-Line Mutation
Humans
Membrane Proteins/genetics
Patched Receptors
Patched-1 Receptor
Pedigree
Receptors, Cell Surface/genetics

Cite this

@article{989dda2c31b245c29d20f7eebfc46e64,

title = "Van gen naar ziekte; basaalcelnaevussyndroom",

abstract = "Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies. Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene. Early recognition and careful follow-up are needed. Guidelines for managing these patients are presented",

keywords = "Basal Cell Nevus Syndrome/genetics, Chromosomes, Human, Pair 9/genetics, Genes, Tumor Suppressor, Germ-Line Mutation, Humans, Membrane Proteins/genetics, Patched Receptors, Patched-1 Receptor, Pedigree, Receptors, Cell Surface/genetics",

author = "{de Meij}, {T. G. J.} and Baars, {M. J. H.} and Gille, {J. J. P.} and Hack, {W. W. M.} and K. Haasnoot and {van Hagen}, {J. M.}",

year = "2005",

month = jan,

day = "8",

language = "Dutch",

volume = "149",

pages = "78--81",

journal = "Nederlands Tijdschrift voor Geneeskunde",

issn = "0028-2162",

publisher = "Vereniging Nederlands Tijdschrift voor Geneeskunde",

number = "2",

}

TY - JOUR

T1 - Van gen naar ziekte; basaalcelnaevussyndroom

AU - de Meij, T. G. J.

AU - Baars, M. J. H.

AU - Gille, J. J. P.

AU - Hack, W. W. M.

AU - Haasnoot, K.

AU - van Hagen, J. M.

PY - 2005/1/8

Y1 - 2005/1/8

N2 - Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies. Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene. Early recognition and careful follow-up are needed. Guidelines for managing these patients are presented

AB - Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies. Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene. Early recognition and careful follow-up are needed. Guidelines for managing these patients are presented

KW - Basal Cell Nevus Syndrome/genetics

KW - Chromosomes, Human, Pair 9/genetics

KW - Genes, Tumor Suppressor

KW - Germ-Line Mutation

KW - Humans

KW - Membrane Proteins/genetics

KW - Patched Receptors

KW - Patched-1 Receptor

KW - Pedigree

KW - Receptors, Cell Surface/genetics

M3 - Article

C2 - 15688838

SN - 0028-2162

VL - 149

SP - 78

EP - 81

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

IS - 2

ER -