A Model for Genetic Susceptibility: Melanoma
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Skin Cancer, Skin Cancer, Cancer, Other Indications |
| Therapuetic Areas: | Oncology, Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 1/16/2019 |
| Start Date: | November 1999 |
| End Date: | July 2020 |
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.
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.
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.
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.
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
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Memorial Sloan Kettering Cancer Center Memorial Sloan Kettering Cancer Center — the world's oldest and...
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