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A Model for Genetic Susceptibility: Melanoma

Open (Enrolling)
Melanoma, Skin Cancer

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Trial Information

A Model for Genetic Susceptibility: Melanoma

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.

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

Type of Study:


Study Design:

Observational Model: Case Control, Time Perspective: Prospective

Outcome Measure:

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.

Outcome Time Frame:

2 years

Safety Issue:


Principal Investigator

Colin Begg, PhD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Memorial Sloan-Kettering Cancer Center


United States: Institutional Review Board

Study ID:




Start Date:

November 1999

Completion Date:

July 2013

Related Keywords:

  • Melanoma
  • Skin Cancer
  • Melanoma
  • Skin cancer
  • Genetic Susceptibility
  • polymorphisms
  • Skin Neoplasms
  • Disease Susceptibility
  • Melanoma



Memorial Sloan-Kettering Cancer Center New York, New York  10021