The European Society of Medical Oncology (ESMO) evaluated breast cancer susceptibility genes on the basis of cancer-related mortality to help guide which genes should be included in genetic testing for inherited breast cancer. They indicated that those that may lead to patients living longer included: BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53 (for breast cancer diagnosed < age 40), and BRIP1 (possibly). Other genes that might help estimate risks, although uncertain they lead to patients living longer, included: CHEK2 and ATM. The group recommended strongly against inclusion of ‘syndromic’ genes such as STK11, PTEN, NF1, and CDH1, when considering testing at a population level.
Turnbull, et al. Ann Oncol. 2025;36(8):853-865. PMID: 40523834. Article: https://pubmed.ncbi.nlm.nih.gov/40523834/. Social media post: https://inheritedcancer.net/post42826/