Naevoid basal cell carcinoma syndrome (NBCS)

Gorlin syndrome , Gorlin-Goltz syndrome , Multiple basal cell nevi, odontogenic keratocysts, skeletal anomalies , Fifth phacomatosis , Hydrocephalus, costovertebral dysplasia, sprengel anomaly

autosomal dominant with complete penetrance, but variable expressivity; 40% are de novo mutations; frequency is about 2\/10^{5 newborns}

109400

D001478

377 Gorlin syndrome

C0004779

NBCS is an hamartoneoplastic syndrome; it is also a chromosome instability syndrome; hamartomas are localized tissue proliferations with faulty differenciation and mixture of component tissues; they are heritable malformations that have a potential towards neoplasia

tumour exereses

extensive number of basal cell carcinomas

according to the tumours (basal cell carcinomas are not life threatening, but may be devastating)

- spontaneous and induced chromosome instability
- delay in the cell cycle
- NBCS is therefore a chromosome instability syndrome

poorly documented

none so far

PTC

glycoprotein with transmembrane domains, extra cellular loops,and intracellular domains

transmembrane protein

part of a signalling pathway; probable cell to cell adhesion role; may have a repressive activity on cell proliferation; as NBCS syndrome is a chromosome instability syndrome, this protein may have a role in DNA maintenance, repair and\/or replication

most germ-line mutations in NBCS patients lead to protein truncation, which suggests that developmental anomalies seen in NBCS may be due to haplo-insufficiency; no obvious genotype-phenotype correlations

mutation and allele loss events in basal cell carcinoma, in NBCS and in sporadic basal cell carcinoma are, so far, in accordance with the two-hit model for neoplasia, as is found in retinoblastoma.

119447

http:\/\/www.stepstn.com\/cgi-win\/nord.exe?proc=GetDocument&rectype=0&recnum=681 NORD: Nevoid Basal Cell Carcinoma Syndrome

http:\/\/www.bccns.org BNCC Life Support Network