The cancer spectrum in families with CHEK2 pathogenic and likely
pathogenic variants

Findings suggest CHEK2 variants may be associated with uterine and pancreatic cancers, as well as other cancer types.

Variants in the CHEK2 gene have well-defined risks for breast and colorectal cancers and may be associated with several other cancer types. However, most CHEK2 studies are based on European founder mutations, and there is a lack of data on non-founder mutations.

We conducted a retrospective review of patients who underwent germline testing of 31 cancer risk genes.

What did we find?

  • A total of 132 patients had pathogenic or likely pathogenic variants in CHEK2.
  • This CHEK2+ cohort was largely White (79.5%), despite our overall database being ethnically diverse.
  • We identified 19 mutations, 75.6% of which were Eastern European founder mutations and 24.4% of which were non-founder mutations.
Cancer rates were similar between patients
with founder and non-founder mutations.
This research was presented at the 2020 San Antonio Breast Cancer Symposium virtual meeting. Download the poster