Genetic counseling (GC) in the era of next generation sequencing (NGS) to diagnose microsatellite instability (MSI) and deficient mismatch repair (dMMR) expression in colorectal cancer (CRC). This is ...

Pathogenic or likely pathogenic (P/LP) variants were predicted using the American College ... Patents, Royalties, Other Intellectual Property: I hold patents on BRCA1, BRCA2, and PTEN. However, the ...

The variant, called PTEN-long, may contribute to a cell's healthy function and also suppress tumor cell development. This landmark study is published in the June 6, 2013 issue of the journal Science.

In this study involving patients with disorders resulting in a predisposition to the development of multiple malignant neoplasms without PTEN germline ... to validate variants that had been ...

Please provide your email address to receive an email when new articles are posted on . Treatment options are limited for triple-negative breast cancer, an aggressive form of breast cancer that ...

Understanding these genetic variants discovered through sequencing efforts is key to further progress in clinical genetics. A recent study identified features linked with pathogenic and benign ...