Please be on the look out for
Ambry Representatives at :
National Society of Genetic Counselors 2014
NSGC 33rd Annual Education Conference
Ernest N. Morial Convention Center
New Orleans, Louisiana
09/17/14 - 09/20/14
In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor.
It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p 53, leading to cell cycle arrest in G1.
In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Germline mutations in CHEK2 have been associated with increased risk for cancer, including breast and colon cancer.
An alteration in this gene was identified in a patient who underwent diagnostic exome sequencing at Ambry Genetics.