Identification of PTEN mutations in metastatic melanoma specimens

Journal of Medical Genetics

Volumn 37, Issue 9, 2000, Pages 653-657

  Celebi, J T ^a   Shendrik, I ^a   Silvers, D N ^a   Peacocke, M ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

Author keywords

CDKN2A; Melanoma; PTEN

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE;

ALLELE; ARTICLE; BRAIN TUMOR; BREAST TUMOR; CANCER GROWTH; CHROMOSOME 10Q; CONTROLLED STUDY; ENDOMETRIUM TUMOR; GENE LOSS; GENE SEQUENCE; GERM LINE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; KIDNEY TUMOR; LIVER TUMOR; MELANOMA; METASTASIS; PRIORITY JOURNAL; PROSTATE TUMOR; SOMATIC MUTATION; THYROID TUMOR; TUMOR CELL LINE; TUMOR SUPPRESSOR GENE;

EID: 0033833298     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.9.653     Document Type: Article

References (35)

1. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer
2. Identification of a candidate tumour suppressor gene, MMACI, at chromosome 10q23.3 that is mutated in multiple advanced cancers
3. TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta
4. PTEN/ MMAC1 mutations in endometrial cancers
5. Frequent inactivation of PTEN/MMAC1 in primary prostate cancer
6. Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas
7. Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors
8. MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines
9. Disruption of the MMAC1/PTEN gene by deletion of mutation is a frequent event in malignant melanoma
10. Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines
11. PTEN/MMAC1 mutations in hepatocellular carcinomas
12. Interfocal heterogeneity of PTEN/MMAC1 gene alterations in multiple metastatic prostate cancer tissues
13. Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies
14. Germline mutations of the PTEN gene in Cowden disease, an inherifed breast and thyroid cancer syndrome
15. The role of MMAC1 mutations in early-onset breast cancer: Causative in association with Cowden syndrome and excluded in BRCA1-negative cases
16. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease
17. Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis
18. The genetic basis of Cowden's syndrome: Three novel mutations in PTEN/MMAC1/TEP1
19. P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase
20. The lipid phosphatase activity of PTEN is critical for its tumour suppressor function
21. The PTEN/MMACI tumor suppressor phosphatase functions as a negative regulator of the phosphoinositide 3-kinase/Akt pathway
22. PTEN modulates cell cycle progression and cell survival by regulating phosphatidylinositol 3,4,5,-trisphosphate and Akt/protein kinase B signaling pathway
23. Loss of heterozygosity in sporadic primary cutaneous melanoma
24. Allelotypes of primary cutaneous melanoma and benign melanocytic nevi
25. Loss of heterozygosity for 10q22-10qter in malignant melanoma progression
26. Possible involvement of the chromosome region 10q24-q26 in early stages of melanocytic neoplasia
27. A genetic model of melanoma tumorigenesis based on allelic losses
28. Growth factor and cytogenetic abnormalities in cultured nevi and malignant melanomas
29. Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: Analysis of a clinic-based population
30. CDKN2A mutations in multiple primary melanomas
31. Germline p16 mutations in familial melanoma
32. J. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus
33. Germline mutations in the p 16INK4a binding domain of CDK4 in familial melanoma
34. Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene
35. Evidence for two tumor suppressive loci on chromosome 10 involved in glioblastomas