| Written | 1997-09 | Jean-loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Other names | Gorlin syndrome |
| Gorlin-Goltz syndrome | |
| Multiple basal cell nevi, odontogenic keratocysts, skeletal anomalies | |
| Fifth phacomatosis | |
| Hydrocephalus, costovertebral dysplasia, sprengel anomaly | |
| Atlas_Id | 10005 |
| Genes implicated in | PTCH1 PTCH2 SUFU |
| Inheritance | autosomal dominant with complete penetrance, but variable expressivity; 40% are de novo mutations; frequency is about 2/105 newborns |
| Clinics |
| Note | 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 |
| Phenotype and clinics | |
| Neoplastic risk | |
| Treatment | tumour exereses |
| Evolution | extensive number of basal cell carcinomas |
| Prognosis | according to the tumours (basal cell carcinomas are not life threatening, but may be devastating) |
| Cytogenetics |
| Inborn conditions | - spontaneous and induced chromosome instability - delay in the cell cycle - NBCS is therefore a chromosome instability syndrome |
| Cytogenetics of cancer | poorly documented |
| Genes involved and Proteins |
| Complementation groups | none so far |
| Gene Name | PTCH1 |
| Alias | PTC |
| Location | in 9q22.3 (between FACC and XPAC !!) |
| Protein | |
| Description | glycoprotein with transmembrane domains, extra cellular loops, and intracellular domains |
| Localisation | transmembrane protein |
| Function | 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 |
| Mutations | |
| Germinal | 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 |
| Somatic | 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. |
| Bibliography |
| Compartment boundaries and the control of Drosophila limb pattern by hedgehog protein. |
| Basler K, Struhl G |
| Nature. 1994 ; 368 (6468) : 208-214. |
| PMID 8145818 |
| The Drosophila segment polarity gene patched interacts with decapentaplegic in wing development. |
| Capdevila J, Estrada MP, S´nchez-Herrero E, Guerrero I |
| The EMBO journal. 1994 ; 13 (1) : 71-82. |
| PMID 8306973 |
| Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. |
| Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA |
| Journal of medical genetics. 1993 ; 30 (6) : 460-464. |
| PMID 8326488 |
| The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. |
| Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, Pressman C, Undén AB, Dean M, Brash DE, Bale AE, Toftgård R |
| Nature genetics. 1996 ; 14 (1) : 78-81. |
| PMID 8782823 |
| Syndromes of the head and neck. |
| Gorlin RJ, Cohen MM, Levin LS |
| Oxford Monogr Med Genet. 1990 ; 19 : 372-380. |
| A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. |
| Hahn H, Christiansen J, Wicking C, Zaphiropoulos PG, Chidambaram A, Gerrard B, Vorechovsky I, Bale AE, Toftgard R, Dean M, Wainwright B |
| The Journal of biological chemistry. 1996 ; 271 (21) : 12125-12128. |
| PMID 8647801 |
| Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. |
| Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE |
| Cell. 1996 ; 85 (6) : 841-851. |
| PMID 8681379 |
| Human homolog of patched, a candidate gene for the basal cell nevus syndrome. |
| Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP |
| Science (New York, N.Y.). 1996 ; 272 (5268) : 1668-1671. |
| PMID 8658145 |
| The naevoid basal-cell carcinoma syndrome (Gorlin syndrome) is a chromosomal instability syndrome. |
| Shafei-Benaissa E, Savage JR, Babin P, Larrègue M, Papworth D, Tanzer J, Bonnetblanc JM, Huret JL |
| Mutation research. 1998 ; 397 (2) : 287-292. |
| PMID 9541654 |
| The Drosophila hedgehog gene is expressed specifically in posterior compartment cells and is a target of engrailed regulation. |
| Tabata T, Eaton S, Kornberg TB |
| Genes & development. 1992 ; 6 (12B) : 2635-2645. |
| PMID 1340474 |
| Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. |
| Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G |
| American journal of human genetics. 1997 ; 60 (1) : 21-26. |
| PMID 8981943 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| Naevoid basal cell carcinoma syndrome (NBCS) |
| Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):34-35. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/NBCID10005.html |
| External links |
| OMIM | 109400 |
| Orphanet | Gorlin syndrome |
| MeSH | D001478 |
| MedGen | D001478 |
| UMLS | C0004779 |
| ICD-10 | Q87.8 |
| HGMD | 119447 |
| Other database | NORD: Nevoid Basal Cell Carcinoma Syndrome |
| Association | BNCC Life Support Network |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:24:30 CEST 2017 |
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