The SMAD4 variants, c.1350G > A (p.Gln450Gln) (P9) found in a patient with familial breast cancer and c.1214T > C (p.Phe362Phe) from a familial breast cancer case and a control, were predicted to result in the disruption of exonic splicing enhancers (ESE). Here, SMAD4 is linked to breast carcinoma.