Germline p16 mutations in familial melanoma (original) (raw)

References

  1. Serrano, M., Hannon, G.J. & Beach, D. A new regulatory motif in cell-cycle control causing specific Inhibition of cyclin D/CDK4. Nature 366, 704–707 (1993).
    Article CAS PubMed Google Scholar
  2. Kamb, A. et al. A cell cycle regulator potentially involved in genesis of many tumor types. Science 264, 436–440 (1994).
    Article CAS PubMed Google Scholar
  3. Nobori, T., Miura, K., Wu, D.J., Lois, A., Takabayashi, K. & Carson, D.A. Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368, 753–756 (1994).
    Article CAS PubMed Google Scholar
  4. Cairns, P. et al. Rates of p16 (MTS1) mutations in primary tumors with 9p loss. Science 265, 415–416 (1994).
    Article CAS PubMed Google Scholar
  5. Cowan, J., Halaban, R. & Francke, U. Cytogenetic analysis of melanocytes from premalignant nevi and melanomas. J. natn. Cancer Inst. 80, 1159–1164 (1988).
    Article CAS Google Scholar
  6. Fountain, J.W. et al. Homozygous deletions within human chromosome band 9p21 in melanoma. Proc. natn. Acad. Sci. U.S.A. 89, 10557–10561 (1992).
    Article CAS Google Scholar
  7. Petty, E.M. et al. Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumour suppressor gene(s). Am. J. hum. Genet. 53, 96–104 (1993).
    CAS PubMed PubMed Central Google Scholar
  8. Cannon-Albright, L. et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13–p22. Science 258, 1148–1152 (1992).
    Article CAS PubMed Google Scholar
  9. Goldstein, A.M. et al. Linkage of cutaneous malignant melanoma/dysplastic nevi to chromosome 9p, and evidence for genetic heterogeneity. Am. J. hum. Genet. 54, 489–496 (1994).
    CAS PubMed PubMed Central Google Scholar
  10. Nancarrow, D.J. et al. Confirmation of chromosome 9p linkage in familial melanoma. Am. J. hum. Genet. 53, 936–942 (1993).
    CAS PubMed PubMed Central Google Scholar
  11. Greene, M.H. & Fraumeni, J.F. The hereditary variant of malignant melanoma (Grune & Stratton, New York, 1979).
    Google Scholar
  12. Tucker, M.A. Individuals at high risk of melanoma. Pigment Cell Res. 9, 95–109 (1988).
    Google Scholar
  13. Tucker, M.A. et al. The risk of melanoma and other cancers in melanomaprone families. J. Invest. Dermatol. Suppl. 100, 350s–355s (1993).
    Article CAS Google Scholar
  14. Kwiatkowski, D.J. & Diaz, M.O. Dinucleotide repeat polymorphism at the IFNA locus (9p22). Hum. molec. Genet. 1, 658 (1992).
    Article CAS PubMed Google Scholar
  15. Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874–879 (1989).
    Article CAS PubMed Google Scholar
  16. Ravnik-Glavac, M., Glavac, D. & Dean, M. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum. molec. Genet. 3, 801–807 (1994).
    Article CAS PubMed Google Scholar
  17. Bale, S.J. et al. Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. New Engl. J. Med. 320, 1367–1372 (1989).
    Article CAS PubMed Google Scholar
  18. Goldstein, A.M. et al. Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity. Am. J. hum. Genet. 52, 537–550 (1993).
    CAS PubMed PubMed Central Google Scholar
  19. Clark, W.H. Jr., Elder, D.E. & Guerry, D. IV. Dysplastic nevi and malignant melanoma. In Pathology of the skin (eds Farmer, E. & Hood, A. ) 684–756 (Appleton and Lange, Norwalk, 1990).
    Google Scholar
  20. MacKie, R.M., Freudenberger, T. & Aitchison, T.C. Personal risk factor chart for cutaneous melanoma. Lancet 2, 487–490 (1989).
    Article CAS PubMed Google Scholar
  21. Tucker, M.A. et al. Dysplastic nevi on the scalp of prepubertal children from melanoma-prone families. J. Pediatr. 103, 65–69 (1983).
    Article CAS PubMed Google Scholar
  22. Fountain, J.W., Hudson, T.J., Engelstein, M., Housman, D.E. & Dracopoli, N.C. Dinucleotide repeat polymorphism at the D9S126 locus (9p22). Hum. molec. Genet. 2, 823 (1993).
    Article CAS PubMed Google Scholar
  23. Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Multilocus linkage analysis in humans:detection of linkage and estimation of recombination. Am. J. hum. Genet. 37, 482–488 (1985).
    CAS PubMed PubMed Central Google Scholar
  24. Smith, C.A.B. Testing for heterogeneity of recombination fraction values in human genetics. Ann. hum. Genet. 27, 175–182 (1963).
    Article CAS PubMed Google Scholar
  25. Ott, J. Analysis of human genetic linkage (The Johns Hopkins University Press, Baltimore, 1991).
    Google Scholar
  26. Ott, J. The HOMOG programs. (Columbia University, New York, 1992).
    Google Scholar
  27. Shuber, A.P., Skoletsky, J., Stern, R. & Handelin, B.L. Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis. Hum. molec. Genet. 2, 159–163 (1993).
    Article PubMed Google Scholar

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