Grant Number:	5R03CA077127-02 Interpret this number
Primary Investigator:	Bale, Allen
Organization:	Yale University
Project Title:	Melanoma Gene Testing in a Tumor Registry Population
Fiscal Year:	1998

DESCRIPTION (Applicant's Description) Genetic factors play a role in susceptibility to a wide variety of human malignancies. During the past few years several genes for common adult onset malignancies have been isolated, opening the possibility of large scale genetic testing for cancer predisposition. Genetic testing has been controversial, however, because effective medical intervention for gene carriers may not yet be available, and insurance and employment discrimination as well as more intangible social discrimination are possible. Melanoma is among the most common cancers in the U.S., and its incidence is doubling every 6 to 10 years. Approximately 10% of cutaneous melanoma is familial, and it is estimated that one fourth to one half of melanoma families carry mutations in CDKN2(pl6) or CDK4. The frequency of mutations in these genes and their impact on prognosis in unselected melanoma patients are unknown. Genetic testing has not been widely applied to melanoma because the value of a negative test has been viewed as limited due to the genetic heterogeneity, and it is not clear that knowledge of carrier status would after medical intervention or change long term outcome. The purpose of the proposed study is to evaluate interest in genetic counseling and testing among melanoma patients and evaluate the effects of these genetic interventions, ascertain melanoma families without CDKN2 or CDK4 mutations for future studies to identify additional melanoma genes, and identify carriers of melanoma gene mutations for future studies of long term medical outcomes in carriers vs. non-carriers. Study subjects will be ascertained through the Connecticut Tumor Registry. Consenting participants will be randomized into a group that receives genetic counseling and a group that receives an educational brochure with similar information. The counseling group will be offered genetic testing during the study. Those who receive the educational brochure will be offered genetic counseling and testing at the end of the study. All participants who choose not to undergo genetic counseling and testing will provide DNA specimens for future research studies with no disclosure of results. Variables affecting interest in genetic counseling and testing, effects of counseling on decision making, and effects of testing on medical follow up will be examined. Preliminary estimates of CDKN2 and CDK4 gene frequencies will be calculated from this study population.





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