GENETIC TESTING for HEREDITARY CANCER SYNDROMES Resource Guide
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Testing Guidelines

IDENTIFYING PATIENTS AT RISK OF HEREDITARY BREAST AND OVARIAN CANCER
Once accurate family history information has been obtained, the next step is to estimate the risk of carrying a BRCA1 or BRCA2 mutation in that individual. The American Society of Clinical Oncology (ASCO) issued guidelines for cancer susceptibility testing, which stated that 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 member

The following features indicate a high likelihood that a patient carries a BRCA1 or BRCA2 mutation and warrants consideration for genetic susceptibility testing.

Personal or family history of:

Breast cancer diagnosed before age 50
Ovarian cancer diagnosed at any age
Male breast cancer
Bilateral breast cancer
Both breast and ovarian cancer
Relatives of BRCA mutation carrier

In addition, women are at increased risk of carrying BRCA mutations if they are of Ashkenazi Jewish ancestry.

Some patients with a strong personal and family history may meet the criteria for the BRACAnalysis Large Rearrangement Test.

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© 2004-06, Myriad Genetic Laboratories, Inc.
Introduction
Informed Consent Case Study
Want to know more?
Background
BRCA1 and BRCA2 Genes
Cancer Risk
Testing Guidelines
Test Results and Medical Management