ICARE Social Media Post May 2024

CHEK2: Bi-Allelic Mutations

Do you know the cancer risks for individuals with CHEK2 bi-allelic mutations (i.e., those with TWO CHEK2 mutations)?

A new study found that risks may be higher for multiple types of cancer, including breast cancer, in both females and males ⤸
▪️ Females more frequently developed 2 or more cancers at younger ages
▪️ Males more frequently developed more than 1 cancer

The type of mutation may be important to guide level of risk (e.g., truncating 1100delC homozygotes higher than compound heterozygotes with truncating mutation along with another missense I157T mutation)

Read the full article at: https://bit.ly/3QiAk1r

Reference: Hinić et al. Genet Med. 2024;26(5):101101. PMID: 38362852.

Permanent link to this article: https://inheritedcancer.net/post50324/