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Melaris Clinical References

Aitken J, Welch J, Duffy D, et al. CDKN2A variants in a population-based sample of Queensland Families with melanoma. J Natl Cancer Inst. 1999;91:446-52.

Agarwala SS, Kirkwood JM. Adjuvant therapy of melanoma. Semin Surg Oncol. 1998;14:302-10.

American Cancer Society. Cancer Facts and Figures 2002. Available at:
http://www.cancer.org/downloads/STT/CancerFacts&Figures2002TM.pdf. Accessed June 10, 2002.


Auroy S, Avril M-F, Chompret A, et al. Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect. Genes Chromosomes Cancer. 2001;32:195-202.

Bahuau M, Vidaud D, Jenkins RB, et al. Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. Cancer Res. 1998;58:2298-2303.

Balch CM, Buzaid AC, Soong S-J, et al. Final version of the American Joint Committee on Cancer Staging System for cutaneous melanoma. J Clin Oncol. 2001;19:3635-3648.

Bale SJ, Dracopoli NC, Tucker MA, et al. Mapping the gene for hereditary cutaneous malignant melanoma—dysplastic nevus to chromosome 1p. N Engl J Med. 1989;320:1367-1372.

Bastianens M, ter Huurne J, Gruis N, et al. The melanocortin-1-receptor gene is the major freckle gene. Hum Mol Genet. 2001;10(16):1701-1708.

Beaudet AL, Tsui LC. A suggested nomenclature for designating mutations. Hum Mutat. 1993;2:245-248.

Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002;94:894-903.

Borg A, Sandberg T, Nilsson K, et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst. 2000;92:1260-1266.

Box NF, Duffy DL, Chen W, et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet. 2001;69:765-773.

Burden AF, Newell J, Andrew N, et al. Genetic and environmental influences in the development of multiple primary melanoma. Arch Dermatol. 1999;135:261-265.

Caldas C, Hahn SA, da Costa LT, et al. Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenomacarcinoma. Nat Genet. 1994;8:27-32.

Cannon-Albright LA, Goldgar DE, Meyer LJ, et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science. 1992;258:1148-1152.

Chaubert P, Gayer R, Zimmermann A, et al. Germ-line mutations of the p16INK4 (MTS1) gene occur in a subset of patients with hepatocellular carcinoma. Hepatology. 1997;25:1376-1381.

Dilworth D, Stewart K, Berenson JR, et al. Germline CDKN2A mutation implicated in predisposition to multiple myeloma. Blood. 2000;95:1869-1871.

Flores JF, Pollock PM, Walker GJ, et al. Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. Oncogene. 1997;15:2999-3005.

Fitzgerald MG, Harkin DP, Silva-Arrieta S, et al. Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc Natl Acad Sci USA. 1996;93:8541-8545.

Fraser MC, Goldstein AM, Tucker MA. The genetics of melanoma. Semin Oncol Nurs. 1997;13:108-114.

Ghaneh P, Greenhalf W, Humphreys M et al. Adenovirus-mediated transfer of p53 and p16INK4a results in pancreatic cancer regression in vitro and in vivo. Gene Ther. 2001;8:199-208.

Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst. 1994;86:1600-1608.

Goldstein AM, Fraser MC, Struewing JP, et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med. 1995;333:970-974.

Greene MH. The genetics of hereditary melanoma and nevi. 1998 update. Cancer. 1999;86:2464-2477.

Greene MH, Clark WH, Tucker MA, et al. High risk of malignant melanoma in melanoma-prone families with dysplastic nevi. Ann Int Med. 1985;102:458-465.

Harland M, Mistry S, Bishop DT, Bishop JA. A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet. 2001;10:2679-2686.

Hashemi J, Platz A, Ueno T, et al. CDKN2A germline mutations in individuals with multiple cutaneous melanomas. Cancer Res. 2000;60:6864-6867.

Hayward N. New developments in melanoma genetics. Curr Oncol Rep. 2000;2:300-306.

Holland EA, Beaton SC, Becker TM, et al. Analysis of the p16 gene, CDKN2, in 17 Australian melanoma Kindreds. Oncogene. 1995;11:2289-2294.

Hussussian CJ, Struewing JP, Goldstein AM et al. Germline p16 mutations in familial melanoma. Nat Genet. 1994;8:15-21.

Kamb A, Herlyn M. Malignant Melanoma. In: Vogelstein B, Kinzler KW, eds. The Genetic Basis of Human Cancer. New York, NY: McGraw-Hill; 1998:507-518.

Kamb B, Shattuck-Eidens D, Eeles R, et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet. 1994;8:22-26.

Kefford RF, Newton Bishop JA, Bergman W, Tucker MA, on behalf of the Melanoma Genetics Consortium. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol. 1999;17:3245-3251.

Lal G, Liu G, Schmocker B, et al. Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations. Cancer Res. 2000;60:409-416.

Liu L, Dilworth D, Gao L, et al. Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet. 1999;21:128-132.

Lynch HT, Brand RE, Hogg D, et al. Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families. Cancer. 2002;94:84-95.

Lynch HT, Fusaro RM, Kimberling WJ, et al. Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis. J Med Genet. 1983;20:342-344.

Monzon J, Liu L, Brill H, et al. CDKN2A mutations in multiple primary melanomas. N Engl J Med. 1998;338:879-887.

Piepkorn M. Melanoma genetics: an update with focus on the CDKN2A(p16)/ARF tumor suppressors. J Am Acad Dermatol. 2000;42(5 Pt 1):705-722.

Ries LAG, Eisner MP, Kosary CL, Hankey BF, Miller BA, Clegg L, Edwards BK (eds). SEER Cancer Statistics Review, 1973-1999, National Cancer Institute. Bethesda, MD,
http://seer.cancer.gov/csr/1973_1999/. Accessed December 30, 2002.


Tucker MA, Fraser MC, Goldstein AM, et al. Risk of melanoma and other cancers in melanoma-prone families. J Invest Dermatol. 1993;100:350S-355S.

Vasen HF, Gruis NA, Frants RR, et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer. 2000;87:809-811.

Weaver-Feldhaus J, Gruis NA, Neuhausen S, et al. Localization of a putative tumor suppressor gene by using homozygous deletions in melanomas. Proc Natl Acad Sci USA. 1994;91:7563-7567.

Weinstock MA. Early detection of melanoma. JAMA. 2000;284:886-889.

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