De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype

American Journal of Medical Genetics

Volumn 73, Issue 3, 1997, Pages 304-307

  Wicking, Carol ^a   Gillies, Susan ^a   Smyth, Ian ^a   Shanley, Susan ^b   Fowles, Lindsay ^a   Ratcliffe, John ^c   Wainwright, Brandon ^a   Chenevix Trench, Georgia ^b,d  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

De novo mutations; Diagnostic criteria; Nevoid basal cell carcinoma syndrome; Patched gene

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASAL CELL NEVUS SYNDROME; GENE MUTATION; GENETIC ANALYSIS; HUMAN; PHENOTYPE; PRIORITY JOURNAL;

BASAL CELL NEVUS SYNDROME; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; EXONS; HUMANS; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE;

EID: 0030720267     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971219)73:3<304::AID-AJMG14>3.0.CO;2-N     Document Type: Article

References (9)

1. Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M (1996): Mutations in the human homologue of the Drosophila patched gene in caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res 56:4599-4601.
2. Gorlin RJ (1987): Nevoid basal cell carcinoma syndrome. Medicine 66:96-113.
3. Hahn H, Wicking C, Zaphiropolous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky T, 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 (1996): Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-851.
4. Johnson RL, Rothman AI, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP (1996): Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-1671.
5. Kimonis AM, Goldstein A, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ (1997): Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299-308.
6. Shanley S, Ratcliffe, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G (1994): Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals. Am J Med Genet 50:282-290.
7. Unden AB, Holmberg E, Lundh-Rozell B, Stahl-Backdahl M, Zaphiropolous PG, Toftgard R, Vorechovsky I (1996): Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: Different in vivo mechanisms of PTCH activation. Cancer Res 56:4562-4565.
8. Wicking C, Berkman J, Wainwright B, Chenevix-Trench G (1994): Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Genomics 505-511.
9. Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G (1997): 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. Am J Hum Genet 60:21-26.