Our institution
National Cancer Institute
Our group
American Melanoma Families Group
Genetic Epidemiology Branch
Division of Cancer Epidemiology and Genetics
National Cancer Institute
NIH/DHHS
Executive Plaza South
6120 Executive Blvd.
Bethesda, MD 20892-7236
USA
The Group leader
Alisa M. Goldstein, Ph.D.
Genetic Epidemiology Branch
Division of Cancer Epidemiology and Genetics
National Cancer Institute
NIH/DHHS
Executive Plaza South
6120 Executive Blvd.
Bethesda, MD 20892-7236
USA
Tele: 01-301-496-4375
Fax: 01-301-402-4489
Email: goldstea@mail.nih.gov
Our studies of familial melanoma began in the mid 1970’s as a clinical and epidemiologic evaluation of American families with two or more living members with melanoma. The study has evolved over the years to a more formal genetic epidemiologic investigation of families with three or more living members with melanoma. We have examined and followed over 2000 family members, some for over 25 years. We are actively accruing additional families in the U.S. and can be contacted at the above address.
Participants are evaluated either at the NIH Clinical Center or locally by the study team. The research team currently includes genetic epidemiologists, clinicians (physicians and nurses), and laboratory investigators. The major goals of the study are to investigate the genetic and environmental determinants of melanoma in families without known germline mutations; for families with CDKN2A mutations, to study the contribution of other genetic and environmental factors in the expression of disease, to estimate penetrance, and to examine gene-gene and gene-environment interactions.
The names and e-mail addresses of the group members
Principal researchers
Margaret Tucker, MD
tuckerp@mail.nih.gov
Michael Sargen, MD
michael.sargen@nih.gov
Alisa Goldstein, PhD
goldstea@mail.nih.gov
Maria Teresa Landi, MD, PhD
landim@mail.nih.gov
Elizabeth Gillanders, PhD
Elizabeth.Gillanders@nih.gov
Rose Yang
royang@mail.nih.gov
Publications
Newton Bishop JA, Harland M, Bennett DC, Bataille V, Goldstein AM, Tucker MA, Ponder BAJ, Cuzick J, Selby P, Bishop DT.
Mutation testing in melanoma families: INK4A, CDK4, and INK4D.
Br J Cancer 1999;80:295-300.
Shennan MG, Badin AC, Walsh S, Summers A, From L, McKenzie M, Goldstein AM, Tucker MA, Hogg D, Lassam N.
Lack of germline CDK6 mutations in familial melanoma.
Oncogene 2000;19:1849-1852.
Goldstein AM, Struewing JP, Chidambaram A, Fraser MC, Tucker MA.
Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.
J Natl Cancer Inst 2000;92:1006-1010.
Harland M, Holland EA, Ghiorzo P, Mantelli M, Bianchi-Scarra G, Goldstein AM, Tucker MA, Ponder BAJ, Mann GJ, Bishop DT, Newton Bishop J.
Mutation screening of the CDKN2A promoter in melanoma families.
Genes Chromosomes Cancer 2000;28:45-57.
Ciotti P, Struewing JP, Mantelli M, Chompret A, Avril MF, Santi PL, Tucker MA, Bianchi-Scarra G*, Bressac-de Paillerets B*, Goldstein AM*.
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.
Am J Hum Genet 2000;67:311-319.
Goldstein AM, Martinez M, Tucker MA, Demenais F.
Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families.
Cancer Epidemiol Biomarkers Prev 2000;9:889-894.
Auroy S, Avril MF, Chompret A, Pham D, Goldstein AM, Bianchi-Scarra G, Frebourg T, Joly P, Spatz SA, Rubino C, Demenais F, French
Hereditary Melanoma Study Group, Bressac-de Paillerets B. Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.
Genes Chromosomes Cancer 2001;32:195-202.
Goldstein AM, Liu L, Shennan MG, Hogg D, Tucker MA, Struewing JP.
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.
Br J Cancer 2001;85:527-530.
Goldstein AM, Tucker MA.
Genetic epidemiology of cutaneous melanoma – A global perspective.
Arch Dermatol 2001;137:1493-1496.
Mantelli M, Barile M, Ciotti P, Ghiorzo P, Lantieri F, Pastorino L, Catricalà C, Torre GD, Folco U, Grammatico P, Padovani L, Pasini B, Rovini D, Queirolo P, Rainero ML, Santi PL, Sertoli RM, Goldstein AM, Società Italiana Dermatologia e Venerologia Gruppo Italiano Studi Epidemiologici in Dermatologia, Bianchi-Scarrà G.
High prevalence of the G101W germline mutation in the CDKN2A (P16ink4a) gene in 62 Italian malignant melanoma families.
Am J Med Genet 2002;107:214-221.
Tucker MA, Fraser MC, Goldstein AM, Struewing JP, King MA, Crawford JT, Chiazze EA, Zametkin DP, Fontaine LS, Clark WH, Jr.
A natural history of melanomas and dysplastic nevi: An atlas of lesions in melanoma-prone families.
Cancer 2002;94:3192-3209.
Bishop DT*, Demenais F*, Goldstein AM*, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA, The Melanoma Genetics Consortium.
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
J Natl Cancer Inst 2002;94:894-903.
Feng Y, Shi J, Goldstein AM, Tucker MA, Nelson MA.
Analysis of mutations and identification of several polymorphisms in the putative promoter region of the p34CDC2-related CDC2L1 gene located at 1p36 in melanoma cell lines and melanoma families.
Int J Cancer 2002;99:834-838.
Kefford R, Newton Bishop J, Tucker M, Bressac-de Paillerets B, Bianchi-Scarra G, Bergman W, Goldstein A, Puig S, Mackie R, Elder D, Hansson J, Hayward N, Hogg D, Olsson H, on behalf of the Melanoma Genetics Consortium.
Genetic testing for melanoma.
Lancet Oncol 2002; 3:653-4.
Tucker MA, Goldstein AM.
Melanoma etiology: where are we?
Oncogene 2003;22:3042-3052.
Tucker MA, Fraser MC, Goldstein AM, Struewing JP, King MA, Crawford JT, Chiazze EA, Zametkin DP, Fontaine LS, Clark WH, Jr.
A natural history of melanomas and dysplastic nevi: An atlas of lesions in melanoma-prone families.
Dermatol Nursing 2003;15:237-253.