Other DNA repair gene associations, such as for ATM, CHEK2 and PALB2, have been well validated in multiple cohort studies and added to breast cancer-specific gene panels.17 In contrast to the aforementioned genes which have no recognisable syndromic phenotype for an individual, the phenotypes from germline pathogenic variants in NF1, PTEN and STK11 (Table 1) are usually easily recognisable in single individuals and there are well-validated diagnostic criteria which allow a clinical diagnosis without the need for molecular confirmation.5,11. Here, PTEN is linked to breast carcinoma.