Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease

Journal of Investigative Dermatology

Volumn 117, Issue 6, 2001, Pages 1650-1653

  Trojan, Joerg ^a   Plotz, Guido ^a   Brieger, Angela ^a   Raedle, Jochen ^a   Meltzer, Stephen J ^b   Wolter, Manfred ^a   Zeuzem, Stefan ^a  

^a GOETHE UNIVERSITY   (Germany)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

Genes, suppressor, tumor; Germline mutation; Hamartoma syndrome, multiple; Keratosis; Loss of heterozygosity; RNA splicing

Indexed keywords

PHOSPHATASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ACANTHOMA; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BREAST CANCER; CASE REPORT; CLINICAL FEATURE; COWDEN SYNDROME; FEMALE; FIBROMA; HETEROZYGOSITY; HIGH RISK POPULATION; HUMAN; KERATOSIS; MUTATION; PAPULE; PRIORITY JOURNAL; SKIN DISEASE; STOP CODON; THYROID CANCER; TRICHILEMMOMA;

EID: 0035675654     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.01954.x     Document Type: Article

References (21)

1. Mutations of the human PTEN gene
2. Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome
3. Mutational abrogation of the PTEN/MMAC 1 gene in gastrointestinal polyps in patients with Cowden disease
4. A highly conserved processed PTEN pseudogene is located on chromosome band 9p21
5. +/- mice
6. The multiple roles of PTEN in tumor suppression
7. Will the real Cowden syndrome please stand up: Revised diagnostic criteria
8. The 1993-94 Genethon human genetic linkage map
9. TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta
10. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer
11. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
12. Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis
13. Defects in RNA splicing and the consequence of shortened translational reading frames
14. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
15. Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation
16. Localization of the gene for Cowden disease to chromosome 10q22- 23
17. Effect of nonsense mutations on PTEN mRNA stability
18. Alternative splicing of the human PTEN/MMAC1/TEP 1 gene
19. Identification of a candidate tumour suppressor gene, MMAC 1, at chromosome 10q23.3 that is mutated in multiple advanced cancers
20. 5′-CpG island methylation of the LKB1/STK 11 promoter and allelic loss at chromosome 19p13.3 in sporadic colorectal cancer
21. Identification of a pseudogene that can masquerade as a mutant allele of the PTEN/MMAC 1 tumor suppressor