Imperial College London


Faculty of MedicineDepartment of Surgery & Cancer

Professor of Molecular Endocrine Oncology



+44 (0)20 7594 2811simak.ali




133ICTEM buildingHammersmith Campus






BibTex format

author = {Martin, L-A and Ribas, R and Simigdala, N and Schuster, E and Pancholi, S and Tenev, T and Gellert, P and Buluwela, L and Harrod, A and Thornhill, A and Nikitorowicz-Buniak, J and Bhamra, A and Turgeon, M-O and Poulogiannis, G and Gao, Q and Martins, V and Hills, M and Garcia-Murillas, I and Fribbens, C and Patani, N and Li, Z and Sikora, MJ and Turner, N and Zwart, W and Oesterreich, S and Carroll, J and Ali, S and Dowsett, M},
doi = {10.1038/s41467-017-01864-y},
journal = {Nature Communications},
title = {Discovery of naturally occurring ESR1 mutations in breast cancer cell lines modelling endocrine resistance.},
url = {},
volume = {8},
year = {2017}

RIS format (EndNote, RefMan)

AB - Resistance to endocrine therapy remains a major clinical problem in breast cancer. Genetic studies highlight the potential role of estrogen receptor-α (ESR1) mutations, which show increased prevalence in the metastatic, endocrine-resistant setting. No naturally occurring ESR1 mutations have been reported in in vitro models of BC either before or after the acquisition of endocrine resistance making functional consequences difficult to study. We report the first discovery of naturally occurring ESR1 Y537C and ESR1 Y537S mutations in MCF7 and SUM44 ESR1-positive cell lines after acquisition of resistance to long-term-estrogen-deprivation (LTED) and subsequent resistance to fulvestrant (ICIR). Mutations were enriched with time, impacted on ESR1 binding to the genome and altered the ESR1 interactome. The results highlight the importance and functional consequence of these mutations and provide an important resource for studying endocrine resistance.
AU - Martin,L-A
AU - Ribas,R
AU - Simigdala,N
AU - Schuster,E
AU - Pancholi,S
AU - Tenev,T
AU - Gellert,P
AU - Buluwela,L
AU - Harrod,A
AU - Thornhill,A
AU - Nikitorowicz-Buniak,J
AU - Bhamra,A
AU - Turgeon,M-O
AU - Poulogiannis,G
AU - Gao,Q
AU - Martins,V
AU - Hills,M
AU - Garcia-Murillas,I
AU - Fribbens,C
AU - Patani,N
AU - Li,Z
AU - Sikora,MJ
AU - Turner,N
AU - Zwart,W
AU - Oesterreich,S
AU - Carroll,J
AU - Ali,S
AU - Dowsett,M
DO - 10.1038/s41467-017-01864-y
PY - 2017///
SN - 2041-1723
TI - Discovery of naturally occurring ESR1 mutations in breast cancer cell lines modelling endocrine resistance.
T2 - Nature Communications
UR -
UR -
VL - 8
ER -