The breast tumor of the patient harboring the p.P92R missense mutation was positive for ER, which is consistent with previous findings that breast tumors linked with CHEK2 frame shift and missense mutations (c.1100delC, c.IVS2 +1G>A, del5395, p.I157T) are predominantly ER-positive [48-50]. Here, ESR1 is linked to breast neoplasm.