A Model for Genetic Susceptibility: Melanoma

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Melanoma Disease Attributes Disease Susceptibility Genetic Predisposition to Disease Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Nerve Tissue Neuroectodermal Tumors Neuroendocrine Tumors Nevi and Melanomas Pathologic Processes Pathological Conditions, Signs and Symptoms Skin Cancer Skin Diseases Skin Neoplasms Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Memorial Sloan Kettering Cancer Center

New York, 10065, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Questionnaire

Behavioral

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

Primary outcomes

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.

Time frame: 2 years

Secondary outcomes

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.

Time frame: 2 years

Sponsors and collaborators

Lead sponsor

Memorial Sloan Kettering Cancer Center

Other

Collaborators

British Columbia Cancer Agency
Cancer Care Ontario
National Cancer Institute (NCI)
New South Wales Cancer Control
Registro dei Tumori, Torino, Italy
University of California, Irvine
University of Michigan
University of New Mexico
University of North Carolina
University of Pennsylvania
University of Tasmania

Registry information

Important dates

Study start: 1999
Primary completion: 2026
Study completion: 2026
First posted: Jan 11, 2008
Registry last updated: Aug 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Active, Not Recruiting