POLE and breast carcinoma: POLE c.1185_1188delGGAG (p.Glu396Thrfs*15), novel and disrupting the ED, perfectly segregated with breast cancer in the carrier family: the variant was present in the proband, her mother, and two maternal aunts, all four of whom were diagnosed with breast cancer (ages at diagnosis: 28, 71, 64, and 67, respectively).