ICARE Newsletter Fall 2024

Risks of Cancer in Individuals with TWO CHEK2 Mutations (called “Bi-Allelic” Mutations)

A new study found that risks may be higher for multiple types of cancer, including breast cancer, in both females and males who have two CHEK2 mutations:

  • Females more frequently developed 2 or more cancers at younger ages
  • Males more frequently developed more than 1 cancer 

Additionally, findings showed that the type of mutation may be important to guide level of risk (e.g., truncating 1100delC homozygotes being at a higher risk than compound heterozygotes with truncating mutation along with the established lower risk I157T mutation).

Hinić, et al. Genet Med. 2024;26(5):101101. PMID: 38362852. Social media post May 28th, 2024. Available at: https://tinyurl.com/post52824.

Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-risks-of-cancer-in-individuals-with-two-chek2-mutations-called-bi-allelic-mutations/