Overall, our results underline the importance of extended genetic testing using panels including the promoter regions of genes involved in cancer predisposition, especially in BC patients lacking variants in the coding regions of BRCA1/2. The last American College of Medical Genetics guidelines32 do not provide specific recommendations for the reporting and classification of variants identified in BRCA1/2 promoter, intronic, and untranslated regions. This evidence concerns the gene BRCA1 and cancer.