Clinical Trials (PDQ®)
|Study of Clinical, Laboratory, and Epidemiologic Characteristics of Individuals and Families at High Risk for Melanoma
First Published: 9/1/2002  Last Modified: 2/29/2008
Study of Individuals and Families at High Risk for Melanoma
Special Category: NIH Clinical Center trial, NCI Web site featured trial
A total of 100 additional families will be accrued for this study within the next few years.
One family member completes a family history questionnaire for verification of diagnosis and construction of a family pedigree. Information collected from all individuals may include skin examination and sun exposure history, overview and close-up photographs, medical history, and limited physical examination (entire skin exam for all family members and lymph node palpation for individuals with current or prior melanoma). Some individuals may also undergo an MRI and/or a skin biopsy.
Blood is collected for localizing genetic loci, identifying genes, and evaluating phenotype/genotype correlations. Each family is tested for mutations in CDKN2A and CDK4 and other potential melanoma susceptibility genes.
Each family member receives educational materials about sun protective behavior, skin self-examination, recognition of melanoma warning signs, recognition of dysplastic nevi, and changes worrisome for melanoma. Each person also receives individual risk counseling about melanoma based on personal cutaneous phenotype and position in the pedigree.
Individuals are followed every few years to document changes in their skin exam as sun exposure is decreased and to collect information from those who have undergone mole biopsies . Specific nevi are followed and photographed.
When the genetic testing results would impact clinical care recommendations, genetic testing and notification of results are offered only to participants who, after appropriate education and counseling, want to know their individual genetic status. Because of the exploratory nature of this study, results are not routinely returned to participants at this time.
A certificate of confidentiality protecting the identity of research participants in this project has been issued by the National Cancer Institute.Published Results
Goldstein AM, Chan M, Harland M, et al.: Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet 44 (2): 99-106, 2007.[PUBMED Abstract]
Goldstein AM, Chan M, Harland M, et al.: High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 66 (20): 9818-28, 2006.[PUBMED Abstract]
Laud K, Marian C, Avril MF, et al.: Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. J Med Genet 43 (1): 39-47, 2006.[PUBMED Abstract]
Goldstein AM, Landi MT, Tsang S, et al.: Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations. Cancer Epidemiol Biomarkers Prev 14 (9): 2208-12, 2005.[PUBMED Abstract]
Harland M, Taylor CF, Chambers PA, et al.: A mutation hotspot at the p14ARF splice site. Oncogene 24 (28): 4604-8, 2005.[PUBMED Abstract]
Goldstein AM, Struewing JP, Fraser MC, et al.: Prospective risk of cancer in CDKN2A germline mutation carriers. J Med Genet 41 (6): 421-4, 2004.[PUBMED Abstract]
Gillanders E, Juo SH, Holland EA, et al.: Localization of a novel melanoma susceptibility locus to 1p22. Am J Hum Genet 73 (2): 301-13, 2003.[PUBMED Abstract]
Rutter JL, Goldstein AM, Dávila MR, et al.: CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF. Oncogene 22 (28): 4444-8, 2003.[PUBMED Abstract]
Bishop DT, Demenais F, Goldstein AM, et al.: Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 94 (12): 894-903, 2002.[PUBMED Abstract]
Feng Y, Shi J, Goldstein AM, et al.: 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 99 (6): 834-8, 2002.[PUBMED Abstract]
Goldstein AM, Chidambaram A, Halpern A, et al.: Rarity of CDK4 germline mutations in familial melanoma. Melanoma Res 12 (1): 51-5, 2002.[PUBMED Abstract]Related Publications
Buckel TB, Goldstein AM, Fraser MC, et al.: Recent tanning bed use: a risk factor for melanoma. Arch Dermatol 142 (4): 485-8, 2006.[PUBMED Abstract]
Goldstein AM, Tucker MA: A piece of the melanoma puzzle. J Natl Cancer Inst 97 (20): 1486-7, 2005.[PUBMED Abstract]
Goldstein AM: Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat 23 (6): 630, 2004.[PUBMED Abstract]
Millen AE, Tucker MA, Hartge P, et al.: Diet and melanoma in a case-control study. Cancer Epidemiol Biomarkers Prev 13 (6): 1042-51, 2004.[PUBMED Abstract]
Rutter JL, Bromley CM, Goldstein AM, et al.: Heterogeneity of risk for melanoma and pancreatic and digestive malignancies: a melanoma case-control study. Cancer 101 (12): 2809-16, 2004.[PUBMED Abstract]
Kefford R, Bishop JN, Tucker M, et al.: Genetic testing for melanoma. Lancet Oncol 3 (11): 653-4, 2002.[PUBMED Abstract]
Tucker MA, Fraser MC, Goldstein AM, et al.: A natural history of melanomas and dysplastic nevi: an atlas of lesions in melanoma-prone families. Cancer 94 (12): 3192-209, 2002.[PUBMED Abstract]
Trial Lead Organizations
NCI - Center for Cancer Research
Note: The purpose of most clinical trials listed in this database is to test new cancer treatments, or new methods of diagnosing, screening, or preventing cancer. Because all potentially harmful side effects are not known before a trial is conducted, dose and schedule modifications may be required for participants if they develop side effects from the treatment or test. The therapy or test described in this clinical trial is intended for use by clinical oncologists in carefully structured settings, and may not prove to be more effective than standard treatment. A responsible investigator associated with this clinical trial should be consulted before using this protocol.