Associated disorders

The CHEK2 gene is associated with an increased risk for autosomal dominant breast cancer and possibly other cancers in individuals who carry a single pathogenic CHEK2 variant.

The gene CHEK2 (checkpoint kinase 2) encodes a cell cycle regulator and a putative tumor suppressor. This protein is activated in response to DNA damage and inhibits CDC25C phosphatase, prevents entry into mitosis, and stabilizes the tumor-suppressor protein p53. This leads to cell cycle arrest at the G1 phase. In addition, this protein interacts with the phosphorylated BRCA1, allowing BRCA1 to restore survival after DNA damage.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
CHEK2 NM_007194.3