Table 1.

Clinical and pathologic characteristics of 5 patients with infiltrating ductal carcinoma carriers of the D538G-ER mutation

Stage at diagnosisHormone receptors at primary tumorER mutation status at diagnosisAdjuvant hormonal treatments (months)Hormonal treatments for metastatic disease (months)Hormone receptors at metastasisTumor content (%)ER minor allele frequency (mutant/WT, %)
LocalNAWTNAAromazin (24)NA7035
Fulvestrant (13)
LocalER 0WTTamoxifen (60)Anastrazole (3)ER +25022
PR +1PR +3
LocalER +1WTTamoxifen (60)Anastrazole (14)ER +13016
PR +3Fulvestrant (9)
LocalER +3WTTamoxifen (20)Exemestane (15)ER +3,8031
PR +3,Anastrazole (32)FulvestrantĀ (28)PR +3,
MetastaticER +3,WTNATamoxifen + goserelin (14)NA8041
PR +3,Anastrazola + goserelin (14)
Fulvestrant (8)

Abbreviations: ER, estrogen receptor; IDC, infiltrating ductal carcinoma; NA, not available; PR, progesterone receptor; WT, wild-type.