A single genetic origin for the G101W CDKN2A mutation in 20 melanoma- prone families

American Journal of Human Genetics

Volumn 67, Issue 2, 2000, Pages 311-319

  Ciotti, Paola ^a   Struewing, Jeffery P ^c   Mantelli, Michela ^a   Chompret, Agnès ^d   Avril, Marie Françoise ^d   Santi, Pier Luigi ^b   Tucker, Margaret A ^c   Bianchi Scarrà, Giovanna ^a   Bressac de Paillerets, Brigitte ^d   Goldstein, Alisa M ^c  

^a UNIVERSITY OF GENOA   (Italy)

^b Istituto Nazionale per la Ricerca sul Cancro   (India)

^c NATIONAL CANCER INSTITUTE   (United States)

^d INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; FAMILIAL INCIDENCE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MELANOMA; MISSENSE MUTATION; PENETRANCE; PRIORITY JOURNAL;

EID: 0033865120     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303001     Document Type: Article

References (39)

1. Novel germline p16 mutation in familial melanoma in southern Sweden
2. 'Early Celtic' socio-political relations: Ideological representation and social competition in dynamic comparative perspective
3. CDKN2A mutations in melanoma
4. Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds
5. Characterization of Ligurian melanoma families and risk of occurrence of other neoplasia
6. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations
7. Genotype-phenotype relationships in American melanoma-prone families with CDKN2A and CDK4 mutations
8. Homozygotes for CDKN2A (p16) germline mutation in Dutch familial melanoma kindreds
9. Surnames, HLA genes and ancient migrations in the Po Valley (Italy)
10. Germline mutations of the CDKN2 gene in UK melanoma families
11. The current situation with regard to human melanoma and genetic inferences
12. Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds
13. Germline p16 mutations in familial melanoma
14. Analysis of the p16 gene (CDKN2A) as a candidate for the chromosome 9p melanoma susceptibility locus
15. Il corallo, il vino e l'albero della vita: Apporti peninsulari allo sviluppo della civilta di La Tene
16. Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma
17. The life and writings of Saint Columban
18. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study
19. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: Results of an international study
20. Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma
21. A genetic history of Italy
22. Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma
23. Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations
24. Mutations associated with familial melanoma impair p16INK4 function
25. Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution
26. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
27. CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanoma and other neoplasia
28. Inhibition of ras-induced proliferation and cellular transformation by p16INK4
29. A new regulatory motif in cell cycle control causing specific inhibition of cyclin D/CDK4
30. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France
31. New estimates of intergenerational time intervals for the calculation of age and origins of mutations
32. Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds
33. A familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2A tumor-suppressor gene