PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas

International Journal of Dermatology

Volumn 50, Issue 7, 2011, Pages 838-843

  Santos, Daniela C C ^a   Zaphiropoulos, Peter G ^b   Neto, Cyro F ^c   Pimentel, Eugênio R A ^c   Sanches, José A ^c   Ruiz, Itamar R G ^a  

^a INSTITUTO BUTANTAN   (Brazil)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PATCHED 1; PROTEIN PATCHED 2;

ADULT; AGED; ARTICLE; BASAL CELL CARCINOMA; CHROMOSOME 9; CLINICAL ARTICLE; DNA DETERMINATION; EXON; FEMALE; GENE MUTATION; GENETIC DISORDER; GENOMIC INSTABILITY; HETEROZYGOSITY LOSS; HUMAN; INTRON; LEUKOCYTE; MALE; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TUMOR CELL;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; BASAL CELL NEVUS SYNDROME; BASE SEQUENCE; CARCINOMA, BASAL CELL; EXONS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENOMIC INSTABILITY; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POINT MUTATION; RECEPTORS, CELL SURFACE; SKIN NEOPLASMS;

EID: 79959618153     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2010.04866.x     Document Type: Article

References (19)

1. Epstein EH. Basal cell carcinomas: attack of the hedgehog. Nat Rev 2008; 8: 743-754.
2. Raasch BA, Buettner PG, Garbe C. Basal cell carcinoma: histological classification and body-site distribution. Br J Dermatol 2006; 155: 401-407.
3. Gorlin RJ. Nevoid basal cell carcinoma syndrome. Dermatol Clin 1995; 13: 113-125.
4. Wicking C, Gillies S, Smyth I, et al. De novo mutations of the patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. Am J Med Genet 1997; 73: 304-307.
5. Rahnama F, Shimokawa T, Lauth M, et al. Inhibition of GLI1 gene activation by Patched1. Biochem J 2006; 394: 19-26.
6. Keris YLB, Jouk P-S, Saada-Sebag G, et al. Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. Eur J Med Genet 2008; 51: 472-478.
7. Zaphiropoulos PG, Unden AB, Rahnama F, et al. Patched 2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas. Cancer Res 1999; 59: 787-792.
8. Smyth I, Narang MA, Evans T, et al. Isolation and characterization of patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32. Hum Mol Genet 1999; 8: 291-297.
9. Fan Z, Li J, Du J, et al. A missence mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet 2008; 45: 303-308.
10. Lindstrom E, Shimokawa T, Toftgard R, Zaphiropoulos PG. PTCH mutations: distribution and analysis. Hum Mutat 2006; 27: 215-219.
11. Wicking C, Shanley S, Smyth I, et al. Most germline 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 1997; 60: 21-26.
12. Abe S, Kabashima K, Sakabe J, et al. Coincident two mutations and one single nucleotidepolymorphism of the PTCH1 gene in a family with naevoid basal cell carcinomasyndrome. Acta Derm Venereol 2008; 88: 635-636.
13. Soufir N, Gerard B, Portela M, et al. PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. Br J Cancer 2006; 95: 548-553.
14. Asplund A, Gustafsson AC, Wikonkal NM, et al. PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer. Br J Dermatol 2005; 152: 868-873.
15. Liboutet M, Portela M, Delestaing G, et al. MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas. J Invest Dermatol 2006; 126: 1510-1517.
16. Teh MT, Blaydon D, Chaplin T, et al. Genome wide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res 2005; 65: 8597-8603.
17. Gyapay G, Morissette J, Vignal A, et al. The 1993-1994 Genethon human genetic linkage map. Nat Genet 1994; 7: 246-339.
18. den Dunnen JT, Antonarakis E. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109: 121-124.
19. Wang W, Wang J, Li J, et al. New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome. Br J Oral Maxillofac Surg 2009; 47: 366-369.