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National Cancer Institute®
Ultima Vez Modificado: 1 de enero del 2002
UI - 11753655
AU - Ling G; Ahmadian A; Persson A; Unden AB; Afink G; Williams C; Uhlen M;
TI - Toftgard R; Lundeberg J; Ponten F PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer.
SO - Oncogene 2001 Nov 22;20(53):7770-8
AD - Department of Genetics and Pathology, Rudbeck Laboratory, University Hospital, Uppsala University, S-751 85 Uppsala, Sweden.
It is widely accepted that disruption of the hedgehog-patched pathway is a key event in development of basal cell cancer. In addition to patched gene alterations, p53 gene mutations are also frequent in basal cell cancer. We determined loss of heterozygosity in the patched and p53 loci as well as sequencing the p53 gene in tumors both from sporadic and hereditary cases. A total of 70 microdissected samples from tumor and adjacent skin were subjected to PCR followed by fragment analysis and DNA sequencing. We found allelic loss in the patched locus in 6/8 sporadic basal cell cancer and 17/19 hereditary tumors. All sporadic and 7/20 hereditary tumors showed p53 gene mutations. Loss of heterozygosity in the p53 locus was rare in both groups. The p53 mutations detected in hereditary tumors included rare single nucleotide deletions and unusual double-base substitutions compared to the typical ultraviolet light induced missense mutations found in sporadic tumors. Careful microdissection of individual tumors revealed genetically linked subclones with different p53 and/or patched genotype providing an insight on time sequence of genetic events. The high frequency and co-existence of genetic alterations in the patched and p53 genes suggest that both these genes are important in the development of basal cell cancer.
UI - 11765170
AU - Tumer C; Er N; Balci S; Atac A
TI - Two male patients with nevoid basal cell carcinoma syndrome from Turkey.
SO - Turk J Pediatr 2001 Oct-Dec;43(4):351-5
AD - Department of Oral Surgery, Faculty of Dentistry, Hacettepe University, Ankara, Turkey.
Nevoid basal cell carcinoma syndrome, also known as Gorlin's syndrome, is a familial autosomal dominant syndrome characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts of the jaws, and skeletal anomalies. Both tumors and malformations of the central nervous system occur with nevoid basal cell carcinoma. Medulloblastoma is the primary brain tumor most frequently associated with this syndrome. The authors report in this article two male patients with nevoid basal cell carcinoma syndrome: a 22-year-old male patient with multiple odontogenic keratocysts, who had medulloblastoma at two years and multiple basal cell carcinoma at 10 years of age, and a 15-year-old male patient with skeletal abnormalities and multiple odontogenic keratocysts in the jaws.
UI - 1741977
AU - Grubben C; Fryns JP; Smeets E; Van den Berghe H
TI - Noonan phenotype in the basal cell nevus syndrome.
SO - Genet Couns 1991;2(1):47-54
AD - Center for Human Genetics, University of Leuven, Belgium.
In this report we present a three-generation family in which five members present the basal cell nevus syndrome. In three of them a Noonan phenotype was present. The basal cell nervus syndrome is another example of a neural crest dysplasia associated with a Noonan-like phenotype. This observation supports the theory that the autosomal dominant mutation causing the neural crest dysplasia may lead to a Noonan-like phenotype.
UI - 3755786
AU - Knobber D; Enderer K; Kloppenburg W; Bertram G; Rose KG
TI - [Stapes anomaly, Gorlin-Goltz and hand-foot-uterus syndrome as partial aspects of a generalized ectodermal-mesodermal abnormality syndrome with variable expression]
SO - Laryngol Rhinol Otol (Stuttg) 1986 Jun;65(6):305-8
A case of a Gorlin-Goltz-syndrome with anomalies of the stapes and incus of one ear is described for the first time. In the reported case, the hand-foot-uterus-syndrome could be recognised simultaneously. In the literature, about 250 cases of the syndrome are known, first published by Gorlin and Goltz in 1960. Malformations of the middle ear, however, have not yet been described in the Gorlin-Goltz-syndrome. As in the reported case both of the syndromes, the Gorlin-Goltz-syndrome and the hand-foot-uterus-syndrome, could be diagnosed, it must be discussed whether there are two independent syndromes or only one syndrome of polyvalent malformations characterised by variable expressivity.
UI - 7856756
AU - Schofield D; West DC; Anthony DC; Marshal R; Sklar J
TI - Correlation of loss of heterozygosity at chromosome 9q with histological subtype in medulloblastomas.
SO - Am J Pathol 1995 Feb;146(2):472-80
AD - Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Patients with the nevoid basal cell carcinoma syndrome (NBCCS) are at increased risk for medulloblastomas as well as for basal cell carcinomas. The gene for NBCCS has been mapped to chromosome 9q22.3-q31 by linkage analysis, and loss of heterozygosity (LOH) in this region has been demonstrated in approximately one-half of sporadic basal cell carcinomas. In the present study, LOH for chromosome 9q22.3-q31 microsatellite markers was investigated in medulloblastomas occurring among children with NBCCS and in sporadic medulloblastomas. Histologically, all 3 NBCCS medulloblastomas were noted to have a desmoplastic phenotype, and LOH was detected in both of the 2 cases for which microsatellite markers were heterozygous in normal tissues. LOH was also detected in a subset of sporadic medulloblastomas, each of which were found to display the desmoplastic phenotype. In all, 3 of the 6 sporadic desmoplastic tumors showed LOH, whereas LOH was not seen in any of the 11 sporadic, non-desmoplastic medulloblastomas studied. Additionally, desmoplastic tumors lacking detectable LOH each showed histological features of so-called cerebellar neuroblastoma, a subgroup of desmoplastic medulloblastoma with extensive neuroblastomatous differentiation. The data are consistent with a role for inactivation of a tumor suppressor gene at chromosome 9q in the development of medulloblastomas in patients with NBCCS and of sporadic medulloblastomas characterized by a desmoplastic phenotype similar to that found in patients with NBCCS. Restriction of chromosome 9q loss to non-neuroblastomatous desmoplastic tumors suggests that this variant of medulloblastoma maybe pathogenetically distinct from tumors having other histological phenotypes.
UI - 8713665
AU - Kovacs A; Czeizel E
TI - [Six cases of basal cell nevus carcinoma in three families]
SO - Orv Hetil 1996 Mar 10;137(10):513-22
AD - Komarom-Esztergom Megyei Onkormanyzat Korhaza es Rendelointezete, Tatabanya, Szent Borbala Korhaz, Borgyogyaszati Osztaly es Bor es Nemibeteggondozo Intezet.
Six cases of three families had basal cell nevus cacinoma syndrome of autosomal dominant inheritance. Five characteristics of this genetic disease are stressed: (1) 40% of cases had sporadic occurrence due to de novo mutations; (2) there are three phases in the manifestation of the disease: congenital abnormalities diagnosed after birth; nevoid phase during childhood with increase at adolescence; oncogen phase after the second decade; (3) symptoms have a variability and age-dependency, (4) this mutant gene can cause both congenital abnormalities and tumours; (5) these patients are very sensitive for environmental mutagens thus it is necessary to limit or to exclude UV and X-rays, cytostatic and immunosuppressive drug treatments.
UI - 8755929
AU - Shimkets R; Gailani MR; Siu VM; Yang-Feng T; Pressman CL; Levanat S;
TI - Goldstein A; Dean M; Bale AE Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
SO - Am J Hum Genet 1996 Aug;59(2):417-22
AD - Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
Gorlin syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, medulloblastomas, ovarian fibromas, and a variety of developmental defects. All affected individuals share certain key features, but there is significant phenotypic variability within and among kindreds with respect to malformations. The gene (NBCCS) maps to chromosome 9q22, and allelic loss at this location is common in tumors from Gorlin syndrome patients. Two recessive cancer-predisposition syndromes, xeroderma pigmentosum group A (XPAC) and Fanconi anemia group C (FACC), map to the NBCCS region; and unusual, dominant mutations in these genes have been proposed as the cause of Gorlin syndrome. This study presents cytogenetic and molecular characterization of germ-line deletions in one patient with a chromosome 9q22 deletion and in a second patient with a deletion of 9q22-q3l. Both have typical features of Gorlin syndrome plus additional findings, including mental retardation, conductive hearing loss, and failure to thrive. That Gorlin syndrome can be caused by null mutations (deletions) rather than by activating mutations has several implications. First, in conjunction with previous analyses of allelic loss in tumors, this study provides evidence that associated neoplasms arise with homozygous inactivation of the gene. In addition, dominant mutations of the XPAC and FACC1 genes can be ruled out as the cause of Gorlin syndrome, since the two patients described have null mutations. Finally, phenotypic features that show variable expression must be influenced by genetic background, epigenetic effects, somatic mutations, or environmental factors, since these two patients with identical alterations (deletions) of the Gorlin syndrome gene have somewhat different manifestations of Gorlin syndrome.
UI - 8738998
AU - Petrikovsky BM; Bialer MG; McLaughlin JA; Bale AE
TI - Sonographic and DNA-based prenatal detection of Gorlin syndrome.
SO - J Ultrasound Med 1996 Jun;15(6):493-5
AD - Department of Obstetrics, North Shore University Hospital Cornell University Medical College, Manhasset, New York.
UI - 10653132
AU - Levanat S; Mubrin MK; Crnic I; Situm M; Basta-Juzbasic A
TI - Variable expression of Gorlin syndrome may reflect complexity of the signalling pathway.
SO - Pflugers Arch 2000;439(3 Suppl):R31-3
AD - Department of Molecular Medicine, Ruder Boskovic Institute, Zagreb, Croatia. firstname.lastname@example.org
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin syndrome is an autosomal dominant disorder characterized by cancer predisposition and multiple developmental defects. Syndrome related disorders have been attributed to alterations of PTCH gene, which plays an important role in Shh signalling pathway. Unresolved complexities of the pathway impede understanding of mechanisms through which PTCH alterations lead to variable phenotype expression in Gorlin syndrome patients, while the role of chromosomal instability is not yet clear. To increase our understanding of NBCCS, every manifestation of the syndrome and associated genetic damage should be seriously considered. Therefore, several atypical NBCCS cases are presented in this paper.
UI - 10554356
AU - Situm M; Levanat S; Crnic I; Pavelic B; Macan D; Grgurevic J;
TI - Mubrin-Koncar M; Lipozencic J Involvement of patched (PTCH) gene in Gorlin syndrome and related disorders: three family cases.
SO - Croat Med J 1999 Dec;40(4):533-8
AD - Department of Molecular Medicine, Rudjer Boskovi Institute, Bijenicka 54, 10000 Zagreb, Croatia.
AIM: To find genetic alterations in PTC or other genes of the Shh/PTCH pathway in tumorous and non- tumorous samples from three families and to correlate them with the varying expression of disorders in presented nevoid basal cell carcinoma syndrome (NBCCS) phenotypes. METHOD: DNA was extracted from archival paraffin-embedded tissues, tumor tissue or peripheral blood leukocytes, and the loss of heterozygosity (LOH) and single strand conformational polymorphism analysis was performed using PCR with primers for polymorphic 9q22.3 markers (D9S196, D9S287, D9S180, D9S127); PTCH exons 3, 6, 8, 13, 15, 16; and smo (smoothened) exon 1. G-banding tecnique was used for cytogenetic analysis of the peripheral blood lymphocytes. RESULTS: We found a LOH for PTCH in several cases and variability in smo in one case. In one case NBCCS could reasonably be ascribed to hemizygous PTCH inactivation, while in other two families this typical correlation between the syndrome phenotype and the observed genetic alterations could not been established. CONCLUSIONS: Further analysis of relatively sparse cases of NBCCS is needed before the symptoms of the syndrome could be convincingly explained by genetic alterations in the Shh/PTCH signalling pathway.
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