Germline pathogenic variants in cancer predisposition genes among women with invasive lobular carcinoma of the breast

Women diagnosed with invasive lobular carcinoma (ILC) of the breast rarely benefit from hereditary cancer testing because the involvement of pathogenic variants (PVs) from cancer predisposition genes in ILC is not well-defined. A multicenter study in the USA found that pathogenic variants in ATM, BRCA2, CDH1, CHEK2, and PALB2 are associated with increased risk of invasive lobular carcinoma (ILC) of the breast, whereas BRCA1 PVs are not. The similar overall PV frequencies in ILC and invasive ductal carcinoma (IDC) suggest that cancer histology should not influence the decision to proceed with genetic testing.