Literature DB >> 8001963

Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome.

C Wicking1, J Berkman, B Wainwright, G Chenevix-Trench.   

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS, or Gorlin syndrome) is a cancer predisposition syndrome characterized by multiple basal cell carcinomas and diverse developmental defects. The gene responsible for NBCCS, which is most likely to be a tumor suppressor gene, has previously been mapped to 9q22.3-q31 in a 12-cM interval between the microsatellite marker loci D9S12.1 and D9S109. Combined multipoint and haplotype analyses of additional polymorphisms in this region in our collection of Australasian pedigrees have further refined the localization of the gene to between the markers D9S196 and D9S180, an interval reported to be approximately 2 cM.

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Year:  1994        PMID: 8001963     DOI: 10.1006/geno.1994.1423

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  8 in total

Review 1.  Basal cell carcinoma.

Authors:  J T Lear; A G Smith
Journal:  Postgrad Med J       Date:  1997-09       Impact factor: 2.401

2.  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.

Authors:  C Wicking; S Shanley; I Smyth; S Gillies; K Negus; S Graham; G Suthers; N Haites; M Edwards; B Wainwright; G Chenevix-Trench
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

Review 3.  DNA copy number losses in human neoplasms.

Authors:  S Knuutila; Y Aalto; K Autio; A M Björkqvist; W El-Rifai; S Hemmer; T Huhta; E Kettunen; S Kiuru-Kuhlefelt; M L Larramendy; T Lushnikova; O Monni; H Pere; J Tapper; M Tarkkanen; A Varis; V M Wasenius; M Wolf; Y Zhu
Journal:  Am J Pathol       Date:  1999-09       Impact factor: 4.307

Review 4.  Nevoid basal cell carcinoma syndrome (Gorlin syndrome).

Authors:  Lorenzo Lo Muzio
Journal:  Orphanet J Rare Dis       Date:  2008-11-25       Impact factor: 4.123

Review 5.  Presymptomatic testing for genetic diseases of later life. Pharmacoepidemiological considerations.

Authors:  B J Rossiter; C T Caskey
Journal:  Drugs Aging       Date:  1995-08       Impact factor: 3.923

6.  Downregulation of the Sonic Hedgehog/Gli pathway transcriptional target Neogenin-1 is associated with basal cell carcinoma aggressiveness.

Authors:  Bárbara S Casas; Christelle Adolphe; Pablo Lois; Nelson Navarrete; Natalia Solís; Eva Bustamante; Patricio Gac; Patricio Cabané; Ivan Gallegos; Brandon J Wainwright; Verónica Palma
Journal:  Oncotarget       Date:  2017-09-19

7.  No evidence of mutation in the human PTC gene, responsible for nevoid basal cell carcinoma syndrome, in human primary squamous cell carcinomas of the esophagus and lung.

Authors:  K Suzuki; Y Daigo; S Fukuda; T Tokino; M Isomura; K Isono; B Wainwright; Y Nakamura
Journal:  Jpn J Cancer Res       Date:  1997-03

8.  Differential allele loss on chromosome 9q22.3 in human non-melanoma skin cancer.

Authors:  E Holmberg; B L Rozell; R Toftgård
Journal:  Br J Cancer       Date:  1996-07       Impact factor: 7.640

  8 in total

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