It was detected in a 30-year-old early-onset breast cancer patient (IV:3) of Punjabi ethnicity, who presented with a grade 3, lymph node positive, invasive ductal carcinoma, positive for expression of estrogen receptor (ER), progesterone receptor (PR) and epidermal growth factor receptor 2 (HER2) (data not shown). The gene discussed is ESR1; the disease is invasive ductal breast carcinoma.