|
1
|
Olefsky JM: Nuclear receptor minireview
series. J Biol Chem. 276:36863–36864. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Gianluca A, Flavia P and Paolo M: Update
on Mechanisms of Hormone Action: Focus on Metabolism, Growth and
Reproduction. Tech; Rijeka, Croatia: pp. 71–73. 2011
|
|
3
|
Tamoxifen for early breast cancer, . An
overview of the randomised trials. Early Breast Cancer Trialists'
Collaborative Group. Lancet. 351:1451–1467. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Ruff M, Gangloff M, Wurtz JM and Moras D:
Estrogen receptor transcription and transactivation:
Structure-function relationship in DNA- and ligand-binding domains
of estrogen receptors. Breast Cancer Res. 2:353–359. 2000.
View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Kojetin DJ, Burris TP, Jensen EV and Khan
SA: Implications of the binding of tamoxifen to the coactivator
recognition site of the estrogen receptor. Endocr Relat Cancer.
15:851–870. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Heldring N, Pike A, Andersson S, Matthews
J, Cheng G, Hartman J, Tujague M, Ström A, Treuter E, Warner M and
Gustafsson JA: Estrogen receptors: How do they signal and what are
their targets. Physiol Rev. 87:905–931. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Goldhirsch A, Glick JH, Gelber RD, Coates
AS and Senn HJ: Meeting highlights: International Consensus Panel
on the Treatment of Primary Breast Cancer. Seventh International
Conference on Adjuvant Therapy of Primary Breast Cancer. J Clin
Oncol. 19:3817–3827. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Pritchard KI: Endocrine therapy: Is the
first generation of targeted drugs the last? J Intern Med.
274:144–152. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Osborne CK, Bardou V, Hopp TA, Chamness
GC, Hilsenbeck SG, Fuqua SA, Wong J, Allred DC, Clark GM and Schiff
R: Role of the estrogen receptor coactivator AIB1 (SRC-3) and
HER-2/neu in tamoxifen resistance in breast cancer. J Natl Cancer
Inst. 95:353–361. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Schiff R, Massarweh SA, Shou J, Bharwani
L, Mohsin SK and Osborne CK: Cross-talk between estrogen receptor
and growth factor pathways as a molecular target for overcoming
endocrine resistance. Clin Cancer Res. 10 (Suppl):S331–S336. 2004.
View Article : Google Scholar
|
|
11
|
Zhou Y, Yau C, Gray JW, Chew K, Dairkee
SH, Moore DH, Eppenberger U, Eppenberger-Castori S and Benz CC:
Enhanced NF kappa B and AP-1 transcriptional activity associated
with antiestrogen resistant breast cancer. BMC Cancer. 7:592007.
View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Thangavel C, Dean JL, Ertel A, Knudsen KE,
Aldaz CM, Witkiewicz AK, Clarke R and Knudsen ES: Therapeutically
activating RB: Reestablishing cell cycle control in endocrine
therapy-resistant breast cancer. Endocr Relat Cancer. 18:333–345.
2011. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Witkiewicz AK and Knudsen ES:
Retinoblastoma tumor suppressor pathway in breast cancer:
Prognosis, precision medicine, and therapeutic interventions.
Breast Cancer Res. 16:2072014. View
Article : Google Scholar : PubMed/NCBI
|
|
14
|
Robinson DR, Wu YM, Vats P, Su F, Lonigro
RJ, Cao X, Kalyana-Sundaram S, Wang R, Ning Y, Hodges L, et al:
Activating ESR1 mutations in hormone-resistant metastatic breast
cancer. Nat Genet. 45:1446–1451. 2013. View
Article : Google Scholar : PubMed/NCBI
|
|
15
|
Toy W, Shen Y, Won H, Green B, Sakr RA,
Will M, Li Z, Gala K, Fanning S, King TA, et al: ESR1
ligand-binding domain mutations in hormone-resistant breast cancer.
Nat Genet. 45:1439–1445. 2013. View
Article : Google Scholar : PubMed/NCBI
|
|
16
|
Merenbakh-Lamin K, Ben-Baruch N, Yeheskel
A, Dvir A, Soussan-Gutman L, Jeselsohn R, Yelensky R, Brown M,
Miller VA, Sarid D, et al: D538G mutation in estrogen receptor-α: A
novel mechanism for acquired endocrine resistance in breast cancer.
Cancer Res. 73:6856–6864. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Schiavon G, Hrebien S, Garcia-Murillas I,
Cutts RJ, Pearson A, Tarazona N, Fenwick K, Kozarewa I,
Lopez-Knowles E, Ribas R, et al: Analysis of ESR1 mutation in
circulating tumor DNA demonstrates evolution during therapy for
metastatic breast cancer. Sci Transl Med. 7:313ra1822015.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Reinert T, Saad ED, Barrios CH and Bines
J: Clinical implications of ESR1 mutations in hormone
receptor-positive advanced breast cancer. Front Oncol. 7:262017.
View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Allred DC, Harvey JM, Berardo M and Clark
GM: Prognostic and predictive factors in breast cancer by
immunohistochemical analysis. Mod Pathol. 11:155–168.
1998.PubMed/NCBI
|
|
20
|
Li H and Durbin R: Fast and accurate short
read alignment with Burrows-Wheeler transform. Bioinformatics.
25:1754–1760. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Li H, Handsaker B, Wysoker A, Fennell T,
Ruan J, Homer N, Marth G, Abecasis G and Durbin R; 1000 Genome
Project Data Processing Subgroup, : The Sequence Alignment/Map
format and SAMtools. Bioinformatics. 25:2078–2079. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
DePristo MA, Banks E, Poplin R, Garimella
KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA,
Hanna M, et al: A framework for variation discovery and genotyping
using next-generation DNA sequencing data. Nat Genet. 43:491–498.
2011. View
Article : Google Scholar : PubMed/NCBI
|
|
23
|
Cingolani P, Platts A, Wang le L, Coon M,
Nguyen T, Wang L, Land SJ, Lu X and Ruden DM: A program for
annotating and predicting the effects of single nucleotide
polymorphisms, SnpEff: SNPs in the genome of Drosophila
melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 6:80–92.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Robinson JT, Thorvaldsdóttir H, Winckler
W, Guttman M, Lander ES, Getz G and Mesirov JP: Integrative
genomics viewer. Nat Biotechnol. 29:24–26. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Kanda Y: Investigation of the freely
available easy-to-use software ‘EZR’ for medical statistics. Bone
Marrow Transplant. 48:452–458. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Jeselsohn R, Yelensky R, Buchwalter G,
Frampton G, Meric-Bernstam F, Gonzalez-Angulo AM, Ferrer-Lozano J,
Perez-Fidalgo JA, Cristofanilli M, Gómez H, et al: Emergence of
constitutively active estrogen receptor-α mutations in pretreated
advanced estrogen receptor-positive breast cancer. Clin Cancer Res.
20:1757–1767. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Takeshita T, Yamamoto Y, Yamamoto-Ibusuki
M, Tomiguchi M, Sueta A, Murakami K, Omoto Y and Iwase H:
Comparison of ESR1 mutations in tumor tissue and matched plasma
samples from metastatic breast cancer patients. Transl Oncol.
10:766–771. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Li B, Liu L, Fu X, Zhou WQ, Zou DT, Zhao
XY, Cai YN, Tu HB, Liu QC and Chen YY: A novel mutation of estrogen
receptor gene detected in girls with precocious puberty. Yi Chuan
Xue Bao. 32:1011–1017. 2005.PubMed/NCBI
|
|
29
|
Rebaï M and Rebaï A: In silico
characterization of functional SNP within the oestrogen receptor
gene. J Genet. 95:865–874. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Zhao C, Koide A, Abrams J,
Deighton-Collins S, Martinez A, Schwartz JA, Koide S and Skafar DF:
Mutation of Leu-536 in human estrogen receptor-alpha alters the
coupling between ligand binding, transcription activation, and
receptor conformation. J Biol Chem. 278:27278–27286. 2003.
View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Chung JH, Pavlick D, Hartmaier R, Schrock
AB, Young L, Forcier B, Ye P, Levin MK, Goldberg M, Burris H, et
al: Hybrid capture-based genomic profiling of circulating tumor DNA
from patients with estrogen receptor-positive metastatic breast
cancer. Ann Oncol. 28:2866–2873. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Karnik PS, Kulkarni S, Liu XP, Budd GT and
Bukowski RM: Estrogen receptor mutations in tamoxifen-resistant
breast cancer. Cancer Res. 54:349–353. 1994.PubMed/NCBI
|
|
33
|
Roodi N, Bailey LR, Kao WY, Verrier CS,
Yee CJ, Dupont WD and Parl FF: Estrogen receptor gene analysis in
estrogen receptor-positive and receptor-negative primary breast
cancer. J Natl Cancer Inst. 87:446–451. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Cancer Genome Atlas Network: Comprehensive
molecular portraits of human breast tumours. Nature. 490:61–70.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Chandarlapaty S, Chen D, He W, Sung P,
Samoila A, You D, Bhatt T, Patel P, Voi M, Gnant M, et al:
Prevalence of ESR1 mutations in cell-free DNA and outcomes in
metastatic breast cancer: A secondary analysis of the BOLERO-2
clinical trial. JAMA Oncol. 2:1310–1315. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Clatot F, Perdrix A, Augusto L, Beaussire
L, Delacour J, Calbrix C, Sefrioui D, Viailly PJ, Bubenheim M,
Moldovan C, et al: Kinetics, prognostic and predictive values of
ESR1 circulating mutations in metastatic breast cancer patients
progressing on aromatase inhibitor. Oncotarget. 7:74448–74459.
2016. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Robertson JFR, Bondarenko IM, Trishkina E,
Dvorkin M, Panasci L, Manikhas A, Shparyk Y, Cardona-Huerta S,
Cheung KL, Philco-Salas MJ, et al: Fulvestrant 500 mg versus
anastrozole 1 mg for hormone receptor-positive advanced breast
cancer (FALCON): An international, randomised, double-blind, phase
3 trial. Lancet. 388:2997–3005. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Ellis MJ, Llombart-Cussac A, Feltl D,
Dewar JA, Jasiówka M, Hewson N, Rukazenkov Y and Robertson JF:
Fulvestrant 500 mg versus anastrozole 1 mg for the First-line
treatment of advanced breast cancer: Overall survival analysis from
the phase II FIRST study. J Clin Oncol. 33:3781–3787. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Finn RS, Crown JP, Lang I, Boer K,
Bondarenko IM, Kulyk SO, Ettl J, Patel R, Pinter T, Schmidt M, et
al: The cyclin-dependent kinase 4/6 inhibitor palbociclib in
combination with letrozole versus letrozole alone as first-line
treatment of oestrogen receptor-positive, HER2-negative, advanced
breast cancer (PALOMA-1/TRIO-18): A randomised phase 2 study.
Lancet Oncoly. 16:25–35. 2015. View Article : Google Scholar
|
|
40
|
Turner NC, Ro J, André F, Loi S, Verma S,
Iwata H, Harbeck N, Loibl S, Huang Bartlett C, Zhang K, et al:
Palbociclib in hormone-receptor-positive advanced breast cancer. N
Engl J Med. 373:209–219. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Fribbens C, O'Leary B, Kilburn L, Hrebien
S, Garcia-Murillas I, Beaney M, Cristofanilli M, Andre F, Loi S,
Loibl S, et al: Plasma ESR1 mutations and the treatment of estrogen
receptor-positive advanced breast cancer. J Clin Oncol.
34:2961–2968. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Gyanchandani R, Kota KJ, Jonnalagadda AR,
Minteer T, Knapick BA, Oesterreich S, Brufsky AM, Lee AV and
Puhalla SL: Detection of ESR1 mutations in circulating cell-free
DNA from patients with metastatic breast cancer treated with
palbociclib and letrozole. Oncotarget. 8:66901–66911. 2016.
View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Takeshita T, Yamamoto Y, Yamamoto-Ibusuki
M, Inao T, Sueta A, Fujiwara S, Omoto Y and Iwase H: Droplet
digital polymerase chain reaction assay for screening of ESR1
mutations in 325 breast cancer specimens. Transl Res.
166:540–553.e2. 2015. View Article : Google Scholar : PubMed/NCBI
|
