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Genomic landscape of platinum resistant and sensitive testicular cancers.
(NATURE PUBLISHING GROUP, 2020-05-04)While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and ... -
Genomic loss of heterozygosity and survival in the REAL3 trial.
(2018-11-30)Background Homologous recombination deficiency (HRD) measured using a genomic signature for loss of heterozygosity (LOH) predicts benefit from rucaparib in ovarian cancer. We hypothesized that some oesophagogastric cancers ... -
Genomic markers in differentiated thyroid cancer
(Institute of Cancer Research (University Of London), 2023-06-14)This thesis explores the potential use of genomic markers to assist the management of differentiated thyroid cancer (DTC) patients throughout the course of their treatment pathway. We explore the use of these markers to ... -
Genomic markers of panitumumab resistance including ERBB2/ HER2 in a phase II study of KRAS wild-type (wt) metastatic colorectal cancer (mCRC).
(IMPACT JOURNALS LLC, 2016-04-05)A prospective study was conducted to identify biomarkers associated with resistance to panitumumab monotherapy in patients with metastatic colorectal cancer (mCRC). Patients with previously treated, codon 12/13 KRAS wt, ... -
Genomic profile of advanced breast cancer in circulating tumour DNA.
(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 ... -
Genomic profiling and pre-clinical modelling of breast cancer leptomeningeal metastasis reveals acquisition of a lobular-like phenotype.
(Springer Science and Business Media LLC, 2023-11-16)Breast cancer leptomeningeal metastasis (BCLM), where tumour cells grow along the lining of the brain and spinal cord, is a devastating development for patients. Investigating this metastatic site is hampered by difficulty ... -
Genomics of lethal prostate cancer at diagnosis and castration resistance.
(AMER SOC CLINICAL INVESTIGATION INC, 2020-04-01)The genomics of primary prostate cancer differ from those of metastatic castration-resistant prostate cancer (mCRPC). We studied genomic aberrations in primary prostate cancer biopsies from patients who developed mCRPC, ... -
Geometric and dosimetric evaluation of the differences between rigid and deformable registration to assess interfraction motion during pelvic radiotherapy.
(ELSEVIER, 2019-03-29)BACKGROUND AND PURPOSE: Appropriate internal margins are essential to avoid a geographical miss in intensity-modulated radiation therapy (IMRT) for endometrial cancer (EC). This study evaluated interfraction target motion ... -
Geometric and dosimetric evaluations of atlas-based segmentation methods of MR images in the head and neck region.
(IOP Publishing, 2018-07-11)Owing to its excellent soft-tissue contrast, magnetic resonance (MR) imaging has found an increased application in radiation therapy (RT). By harnessing these properties for treatment planning, automated segmentation methods ... -
Geospatial immune variability illuminates differential evolution of lung adenocarcinoma.
(NATURE PORTFOLIO, 2020-07-01)Remarkable progress in molecular analyses has improved our understanding of the evolution of cancer cells toward immune escape1-5. However, the spatial configurations of immune and stromal cells, which may shed light on ... -
Geriatric Oncology as an Unmet Workforce Training Need in the United Kingdom-A Narrative Review by the British Oncology Network for Undergraduate Societies (BONUS) and the International Society of Geriatric Oncology (SIOG) UK Country Group.
(MDPI, 2023-09-28)Cancer is a disease associated with ageing. Managing cancer in older adults may prove challenging owing to pre-existing frailty, comorbidity, and wider holistic needs, as well as the unclear benefits and harms of standard ... -
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
(AMER SOC HEMATOLOGY, 2016-11-10)Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where ... -
Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer.
(ELSEVIER SCI LTD, 2022-06-27)INTRODUCTION: Translation of genome-wide association study (GWAS) findings into preventive approaches is challenged by the identification of the causal risk variants and the understanding of the biological mechanisms by ... -
Germline and Somatic Genetic Variants in the p53 Pathway Interact to Affect Cancer Risk, Progression, and Drug Response.
(AMER ASSOC CANCER RESEARCH, 2021-04-01)Insights into oncogenesis derived from cancer susceptibility loci (SNP) hold the potential to facilitate better cancer management and treatment through precision oncology. However, therapeutic insights have thus far been ... -
Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer.
(ELSEVIER, 2023-06-01)BACKGROUND: Germline mutations in the ataxia telangiectasia mutated (ATM) gene occur in 0.5-1% of the overall population and are associated with tumour predisposition. The clinical and pathological features of ATM-mutated ... -
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
(ELSEVIER SCIENCE INC, 2018-02-01)BACKGROUND: Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on the prognosis of patients with breast cancer. The primary aim of this study was to determine the effect ... -
Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
(ELSEVIER, 2019-09-01)BACKGROUND: Rare germline mutations in DNA repair genes are associated with prostate cancer (PCa) predisposition and prognosis. OBJECTIVE: To quantify the frequency of germline DNA repair gene mutations in UK PCa cases and ... -
Germline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT.
(NATURE PUBLISHING GROUP, 2020-06-01)BACKGROUND: The development of prostate cancer can be influenced by genetic and environmental factors. Numerous germline SNPs influence prostate cancer susceptibility. The functional pathways in which these SNPs increase ... -
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
(CELL PRESS, 2022-05-05)We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic ... -
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
(BMJ PUBLISHING GROUP, 2022-12-26)OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the ...