MLH1 and Lynch syndrome: MLH1 gene, involved in Lynch syndrome plays a significant role in cancer predisposition, since MLH1 mutation carriers have a high risk for multiple primary cancers, including colorectal, endometrial, ovarian and breast cancers.29,30 Moreover, variants in ATM regulatory regions were strongly associated with a positive family history (P = 0.041) whilst alterations in the regulatory region of CDH1 were strongly associated with residual after neoadjuvant chemotherapy (P = .027) being present in 44% of all cases.