With this in mind, several initiatives have been established such as “ENIGMA consortium” aiming to determine the clinical significance of sequence variants in BRCA1, BRCA2 and other known or candidate breast cancer susceptibility genes (Spurdle et al., 2012; Richards et al., 2015; Hart et al., 2019; Heczkova et al., 2019). Here, BRCA1 is linked to breast carcinoma.