• By Jessica Profato
  • Posted October 16, 2017

Identifying Patients with Lynch Syndrome: A Paired Somatic/Germline Testing Approach

Lynch syndrome is one of the most common hereditary cancer syndromes, affecting about 1/279-1/440 people in the U.S. It is caused by a genetic mutation in one of five genes: MLH1, MSH2, MSH6, PMS2, or EPCAM. Individuals with Lynch syndrome have a significantly increased lifetime risk for multiple types of cancer including colorectal …


  • By Jessica Profato
  • Posted July 26, 2017

Why Paired Tumor/Germline Testing?

Germline genetic testing is used by many labs to evaluate a patient’s predisposition to hereditary cancer, and produces excellent results in its analysis of many genetic conditions. However, when germline testing is combined with tumor testing as a single paired test, it may yield even more helpful results in certain situations. Specifically, …


  • By Jackie Connor
  • Posted October 26, 2016

Research Shows BRCA2 may be Linked to Brain Tumors

In 2016, it is estimated that 246,660 new cases of breast cancer will be diagnosed in women and 2,600 cases in men and out of those cases, only about 5-10% will be hereditary. The most common cause for hereditary breast cancer cases are due to mutations in the BRCA1 and BRCA2 genes. Thanks to recent research at Ambry, it …