Browsing Molecular Pathology by author "Garcia-Murillas, Isaac"
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Circulating tumour DNA is a potential biomarker for disease progression and response to targeted therapy in advanced thyroid cancer.
Allin, DM; Shaikh, R; Carter, P; Thway, K; Sharabiani, MTA; et al. (ELSEVIER SCI LTD, 2018-11-01)BACKGROUND: Conventional biomarkers in thyroid cancer are not disease specific and fluctuate in advanced disease, making interpretation difficult. Circulating tumour DNA (ctDNA) has been shown to be a useful biomarker in ... -
Discovery of naturally occurring ESR1 mutations in breast cancer cell lines modelling endocrine resistance.
Martin, L-A; Ribas, R; Simigdala, N; Schuster, E; Pancholi, S; et al. (NATURE PORTFOLIO, 2017-11-30)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, ... -
Efficient Genotyping of KRAS Mutant Non-Small Cell Lung Cancer Using a Multiplexed Droplet Digital PCR Approach.
Pender, A; Garcia-Murillas, I; Rana, S; Cutts, RJ; Kelly, G; et al. (PUBLIC LIBRARY SCIENCE, 2015-09-28)Droplet digital PCR (ddPCR) can be used to detect low frequency mutations in oncogene-driven lung cancer. The range of KRAS point mutations observed in NSCLC necessitates a multiplex approach to efficient mutation detection ... -
ESR1 Mutations and Overall Survival on Fulvestrant versus Exemestane in Advanced Hormone Receptor-Positive Breast Cancer: A Combined Analysis of the Phase III SoFEA and EFECT Trials.
Turner, NC; Swift, C; Kilburn, L; Fribbens, C; Beaney, M; et al. (AMER ASSOC CANCER RESEARCH, 2020-10-01)PURPOSE: ESR1 mutations are acquired frequently in hormone receptor-positive metastatic breast cancer after prior aromatase inhibitors. We assessed the clinical utility of baseline ESR1 circulating tumor DNA (ctDNA) analysis ... -
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston, B; Cutts, RJ; Bye, H; Beaney, M; Walsh-Crestani, G; et al. (NATURE PORTFOLIO, 2021-04-23)The genomics of advanced breast cancer (ABC) has been described through tumour tissue biopsy sequencing, although these approaches are limited by geographical and temporal heterogeneity. Here we use plasma circulating ... -
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 ... -
Modeling Therapy Resistance in BRCA1/2-Mutant Cancers.
Dréan, A; Williamson, CT; Brough, R; Brandsma, I; Menon, M; et al. (AMER ASSOC CANCER RESEARCH, 2017-09-01)Although PARP inhibitors target BRCA1- or BRCA2-mutant tumor cells, drug resistance is a problem. PARP inhibitor resistance is sometimes associated with the presence of secondary or "revertant" mutations in BRCA1 or BRCA2 ... -
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 ... -
Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer.
Garcia-Murillas, I; Schiavon, G; Weigelt, B; Ng, C; Hrebien, S; et al. (AMER ASSOC ADVANCEMENT SCIENCE, 2015-08-26)The identification of early-stage breast cancer patients at high risk of relapse would allow tailoring of adjuvant therapy approaches. We assessed whether analysis of circulating tumor DNA (ctDNA) in plasma can be used to ... -
Plasma ESR1 Mutations and the Treatment of Estrogen Receptor-Positive Advanced Breast Cancer.
Fribbens, C; O'Leary, B; Kilburn, L; Hrebien, S; Garcia-Murillas, I; et al. (2016-09)Purpose ESR1 mutations are selected by prior aromatase inhibitor (AI) therapy in advanced breast cancer. We assessed the impact of ESR1 mutations on sensitivity to standard therapies in two phase III randomized trials that ... -
The Spatiotemporal Evolution of Lymph Node Spread in Early Breast Cancer.
Barry, P; Vatsiou, A; Spiteri, I; Nichol, D; Cresswell, GD; et al. (SPRINGER, 2018-02-01)Purpose: The most significant prognostic factor in early breast cancer is lymph node involvement. This stage between localized and systemic disease is key to understanding breast cancer progression; however, our knowledge ... -
Triplet Therapy with Palbociclib, Taselisib, and Fulvestrant in PIK3CA-Mutant Breast Cancer and Doublet Palbociclib and Taselisib in Pathway-Mutant Solid Cancers.
Pascual, J; Lim, JSJ; Macpherson, IR; Armstrong, AC; Ring, A; et al. (AMER ASSOC CANCER RESEARCH, 2021-01-01)Cyclin-dependent kinase 4/6 (CDK4/6) and PI3K inhibitors synergize in PIK3CA-mutant ER-positive HER2-negative breast cancer models. We conducted a phase Ib trial investigating the safety and efficacy of doublet CDK4/6 ...