In two large case–control studies published in 2021, a significant association with breast cancer was shown for protein truncating variants (PTVs) in ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C and RAD51D. Pathogenic variants in TP53 only showed a significant association in the BRIDGES study [17], CDH1 was associated only with estrogen receptor positive breast cancer in the CARRIERS study [18], PTEN failed to show significant association in either study and STK11 was not associated with breast cancer in the BRIDGES study. The gene discussed is CHEK2; the disease is breast cancer.