A person with a pathogenic variant in the CHEK2 gene may be at an increased risk for developing breast and other cancers. This ACMG Clinical Practice Resource, published in ACMG’s flagship journal, Genetics in Medicine, provides valuable information for healthcare providers caring for individuals with pathogenic variants in the CHEK2
This new ACMG Practice Resource points out that while CHEK2 has largely been considered a “moderate risk” breast cancer gene, the distinction is blurred with risk being on a continuum, ranging from low to moderate to high risk. It states that the association of cancer risk with CHEK2 variants is also complex and is influenced by a number of factors, including the specific variant, family history, non-CHEK2 genetic background, and other factors. Therefore, personalized
(rather than generalized) risk must be assessed by a specialist in cancer genetics and take into account family and personal history, the specific variant(s), and other risk factors. Early cancer detection, surveillance, prevention, and clinical decisions should then be guided by these personalized risk estimates and shared decision making. Seeking
consultation with a healthcare provider with expertise in cancer genetics and genetic counseling is recommended.
Hanson, et al. Genet Med. 2023:100870. PMID: 37490054. Social medica post September 27th, 2023. Available at
https://tinyurl.com/post9272023. Read the ACMG press release at: https://tinyurl.com/yvammhzt