Browsing by author "Lopez Knowles, Elena"
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Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer.
Schiavon, G; Hrebien, S; Garcia-Murillas, I; Cutts, RJ; Pearson, A; et al. (AMER ASSOC ADVANCEMENT SCIENCE, 2015-11-11)Acquired ESR1 mutations are a major mechanism of resistance to aromatase inhibitors (AIs). We developed ultra high-sensitivity multiplex digital polymerase chain reaction assays for ESR1 mutations in circulating tumor DNA ... -
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning, AM; Michailidou, K; Kuchenbaecker, KB; Thompson, D; French, JD; et al. (NATURE PUBLISHING GROUP, 2016-04-01)We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each ... -
Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials.
Cuzick, J; Brentnall, AR; Segal, C; Byers, H; Reuter, C; et al. (LIPPINCOTT WILLIAMS & WILKINS, 2017-03-01)Purpose At least 94 common single nucleotide polymorphisms (SNPs) are associated with breast cancer. The extent to which an SNP panel can refine risk in women who receive preventive therapy has not been directly assessed ... -
Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance.
Pearson, A; Proszek, P; Pascual, J; Fribbens, C; Shamsher, MK; et al. (AMER ASSOC CANCER RESEARCH, 2020-02-01)PURPOSE: Advanced breast cancer (ABC) has not been subjected to the same degree of molecular scrutiny as early primary cancer. Breast cancer evolves with time and under the selective pressure of treatment, with the potential ... -
Molecular characterisation of aromatase inhibitor-resistant advanced breast cancer: the phenotypic effect of ESR1 mutations.
Lopez-Knowles, E; Pearson, A; Schuster, G; Gellert, P; Ribas, R; et al. (SPRINGERNATURE, 2019-01-22)BACKGROUND: Several thousand breast cancer patients develop resistance to aromatase inhibitors (AIs) each year in the UK. Rational treatment requires an improved molecular characterisation of resistant disease. MATERIALS ... -
Molecular profiling of aromatase inhibitor sensitive and resistant ER+HER2- postmenopausal breast cancers.
Schuster, EF; Lopez-Knowles, E; Alataki, A; Zabaglo, L; Folkerd, E; et al. (NATURE PORTFOLIO, 2023-07-07)Aromatase inhibitors (AIs) reduce recurrences and mortality in postmenopausal patients with oestrogen receptor positive (ER+) breast cancer (BC), but >20% of patients will eventually relapse. Given the limited understanding ... -
Relationship between ER expression by IHC or mRNA with Ki67 response to aromatase inhibition: a POETIC study.
Lopez-Knowles, E; Detre, S; Hills, M; Schuster, EF; Cheang, MCU; et al. (BMC, 2022-09-12)BACKGROUND: In clinical practice, oestrogen receptor (ER) analysis is almost entirely by immunohistochemistry (IHC). ASCO/CAP recommends cut-offs of < 1% (negative) and 1-10% (low) cells positive. There is uncertainty ... -
Tumor PIK3CA Genotype and Prognosis in Early-Stage Breast Cancer: A Pooled Analysis of Individual Patient Data.
Zardavas, D; Te Marvelde, L; Milne, RL; Fumagalli, D; Fountzilas, G; et al. (AMER SOC CLINICAL ONCOLOGY, 2018-04-01)Purpose Phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha ( PIK3CA) mutations are frequently observed in primary breast cancer. We evaluated their prognostic relevance by performing a pooled analysis ...