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New Genetic Test for Breast Cancer Launched

By Labmedica International staff writers
Posted on 17 Dec 2013
Image: BRCAvantage collection kit (Photo courtesy of Quest Diagnostics).
Image: BRCAvantage collection kit (Photo courtesy of Quest Diagnostics).
A cutting-edge test that identifies mutations in breast cancer genes (BRCA1 and BRCA2) that are associated with increased risk of inherited breast and ovarian cancers has been launched.

A woman with a confirmed BRCA1 or BRCA2 gene mutations is at greater risk of developing cancer during her lifetime with up to an 85% risk of breast cancer and up to a 40% risk of ovarian cancer compared to the general population.

The assay is called BRCAvantage and comprises four individual tests that are administered on the basis of a patient’s risk level. The test screens for known harmful BRCA 1/2 mutations using next generation sequencing and multiplex ligation-dependent probe amplification (MLPA). Identified gene variants are cross-referenced with mutational databases for clinical analysis. To facilitate the implementation of BRCAvantage, the production company, Quest Diagnostics (Madison, NJ, USA), announced that it will offer clinicians and patients access to third-party genetic counselors.

BRCA1 and BRCA2 are genes with known mutations responsible for increasing the risk of hereditary breast and ovarian cancer and associated cancers in women, and for prostate and breast cancer among men. Genetic testing is recommended for people with an immediate family member diagnosed with breast cancer at age 45 or younger; a personal history of breast cancer at age 45 or younger; a family member diagnosed with ovarian cancer at any age; a personal or family history of both breast and ovarian cancers on the same side of the family; a personal or family history of male breast cancer; Ashkenazi Jewish heritage, or a personal or family history of bilateral breast cancer.

Jon R. Cohen, MD, senior vice president and chief medical officer at Quest diagnostics said, “Quest stands for the power of knowing. Making sure patients have access to a genetic test with proven clinical value is essential. Patients need to understand their cancer risks in order to make the most informed and timeliest decisions about their health. While not every woman should get a BRCA test, Quest has a special opportunity to ensure every woman for whom BRCA testing is indicated can access this important technology.”

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