GENETIC TESTING for HEREDITARY CANCER SYNDROMES Resource Guide
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TESTING GUIDELINES

IDENTIFYING PATIENTS AT RISK FOR HEREDITARY MELANOMA
Obtaining a detailed personal/family history is the first step in identifying individuals at increased risk for hereditary melanoma. The American Society of Clinical Oncology (ASCO) issued guidelines for cancer susceptibility testing, which stated testing should only be offered when:

The individual has personal or family history features suggestive of a genetic cancer susceptibility condition
The test can be adequately interpreted
The results will influence the medical management of the patient or family

The following features warrant consideration for p16 genetic testing.

Multiple diagnoses of primary melanoma in one individual
Two or more family members with melanoma
Melanoma and pancreatic cancer in one individual and/or the family
Melanoma and a personal/family history of melanoma and multiple atypical moles
Relatives of a p16 mutation carrier

There is a proportional relationship between the presence of a p16 mutation and the number of affected family members with melanoma. Hereditary melanoma and genetic testing may be appropriate for families with at least two or more affected family members, one of whom is a first degree relative. Early age of onset of cancer, multiple primary tumors, and family/personal history of pancreatic cancer may further suggest p16 gene involvement.

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Introduction
Informed Consent Case Study
Want to know more?
Background
p16 Gene
Cancer Risk
Testing Guidelines
Test Results and Medical Management