Hereditary Breast and Ovarian Cancer – BRCA

Hereditary breast and ovarian cancers are most strongly associated with mutations of the BRCA1 and BRCA2 genes. In women who have a clinically important BRCA gene mutation, the lifetime risk of developing Hereditary Breast and/or Ovarian Cancer can reach 80%. Cancer-predisposing mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant manner. The prognosis for breast cancer survival depends upon the stage at which breast cancer is diagnosed. 

The APEX-based test covers 83 mutations from five genes: BRCA1, BRCA2, CHEK2, RAD51, and NBN. The test has been validated in a Latvian and Estonian breast and ovarian cancer study in 2007. In addition to microarray based testing we are also offering sequence analysis of the entire coding region of the BRCA1 and BRCA2 genes.

Testing should be performed if there is a familiar history of breast or ovarian cancer, genetic alterations have been found in the family, or there is a history of breast cancer in males in the family. If risk alleles are discovered, the physician may begin to plan follow-up programs based on mammographies and other tests.

The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).

 

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Asper Ophthalmics
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