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A Model for Genetic Susceptibility: Melanoma

A Model for Genetic Susceptibility: Melanoma

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT00591500
Enrollment
4082
Registered
2008-01-11
Start date
1999-11-01
Completion date
2027-07-01
Last updated
2026-08-05

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Melanoma, Skin Cancer

Keywords

Melanoma, Skin cancer, Genetic Susceptibility, polymorphisms

Brief summary

The goal of this study is to find out if some people are more likely to get melanoma, a form of skin cancer, than others are. To do this we will compare people who have had more than one melanoma to people who have had only one melanoma and to people who are similar but who have not developed melanoma. People respond to the environment in different ways. Some may be born with genes that make them more likely to get this type of skin cancer. Each person has many ways to repair normal damage to their genes. Specific genes may affect the repair of sun damage. Other genes affect the way the skin itself reacts to the sun. We want to find out which genes have normal changes in them and lead to different responses to exposures, such as the sun. We also want to find out if sun habits are related to the way these genes work.

Detailed description

The purpose of this study is to better understand genetic susceptibility to melanoma and the interactions of specific polymorphisms with each other and with environmental factors. To accomplish this, buccal swabs or blood specimens from patients with melanoma (either single primary or multiple primary) have been collected. Specimens will be prepared in the Epidemiology Laboratory at MSKCC. They will be analyzed at MSKCC for INK4A (and functional assays for DNA repair capacity when blood is available) and the melanocortin gene (MC1R), at the University of North Carolina for polymorphisms in DNA repair genes and immune function genes, at the University of Pennsylvania for polymorphisms in the melanocortin receptor gene (MC1R) and immune function genes, and at the University of California (Irvine) for polymorphisms in metabolizing genes (P450's and GST's). Samples will be banked at MSKCC and the University of New Mexico. In order to perform this study, subjects from population-based registries in the United States (New Jersey, North Carolina, Michigan, San Diego/Imperial Counties), Canada (Cancer Care Ontario, British Columbia), Italy (Turin), Australia (New South Wales, Tasmania), were interviewed, asked to provide blood or buccal swab samples and asked to provide permission to obtain and review slides of their primary melanoma. This study is now closed to accrual.

Interventions

BEHAVIORALQuestionnaire

Exposures of interest will be measured by a self-administered personal residence, occupation and vacation calendar, a telephone interview, and by testing DNA from buccal cells and blood, when available. Standardization of diagnosis will be undertaken by review of tissue slides. Questionnaire data will be completed by interviewers. DNA will be obtained from each individual in the form of 4-6 buccal swabs

Sponsors

Memorial Sloan Kettering Cancer Center
Lead SponsorOTHER
National Cancer Institute (NCI)
CollaboratorNIH
University of New Mexico
CollaboratorOTHER
University of North Carolina
CollaboratorOTHER
University of Michigan
CollaboratorOTHER
University of California, Irvine
CollaboratorOTHER
New South Wales Cancer Control
CollaboratorUNKNOWN
University of Tasmania
CollaboratorOTHER
Registro dei Tumori, Torino, Italy
CollaboratorUNKNOWN
British Columbia Cancer Agency
CollaboratorOTHER
Cancer Care Ontario
CollaboratorOTHER
University of Pennsylvania
CollaboratorOTHER

Study design

Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE

Eligibility

Sex/Gender
ALL
Healthy volunteers
Yes

Inclusion criteria

\- The subject must have a histologically confirmed invasive first primary melanoma newly diagnosed between January 1, 2000 and December 31, 2000. OR the subject must have a histologically confirmed invasive or in situ second primary melanoma newly diagnosed between January 1, 1998 and December 31, 2003. One of the earlier primaries must be invasive melanoma OR the subject must be a randomly ascertained control from the general. \- The patient must be a resident of a one of the specific geographic areas participating in this study.

Exclusion criteria

* Subjects who do not speak English or Italian * Subject is unable to sign informed consent * Subject is unable to participate in telephone interview

Design outcomes

Primary

MeasureTime frame
Comparison of INK4A and CDK4 mutation status and DNA repair gene, metabolizing gene, immune function gene, and melanocortin receptor gene polymorphism status; Interactions between polymorphisms and sun exposure history; Interactions among polymorphisms.2 years

Secondary

MeasureTime frame
to examine psychosocial factors that predict skin cancer prevention behaviors including: participants' perceptions of future cancer risk, worry about cancer, self-efficacy, response-efficacy, and presence of family discussions about skin cancer risk.2 years

Countries

United States

Contacts

PRINCIPAL_INVESTIGATORArlene Orlow, PhD

Memorial Sloan Kettering Cancer Center

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Aug 6, 2026