2023-2024

726P Circulating cell-free DNA-based biomarkers as a new tool for prognosis and surveillance of adrenocortical carcinoma | Ronchi CL, et al. | Annals of Oncology | Oct. 2023

By Celina Whalley / April 3, 2024 / Comments Off on 726P Circulating cell-free DNA-based biomarkers as a new tool for prognosis and surveillance of adrenocortical carcinoma | Ronchi CL, et al. | Annals of Oncology | Oct. 2023

Ronchi CL, Lippert J, Smith G, Altieri B, Elhassan YS, Landwehr LS, et al. 726P Circulating cell-free DNA-based biomarkers as a new tool for prognosis and surveillance of adrenocortical carcinoma. Annals of Oncology. 2023;34:S500. Nonacus product: Custom panels Background Adrenocortical carcinoma (ACC) is a rare aggressive endocrine cancer with heterogeneous behaviour. Disease surveillance relies on…

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Improving hereditary hemorrhagic telangiectasia molecular diagnosis: A referral center experience | Aguilera C, et al | Genes | Mar. 2023

By Celina Whalley / March 28, 2024 / Comments Off on Improving hereditary hemorrhagic telangiectasia molecular diagnosis: A referral center experience | Aguilera C, et al | Genes | Mar. 2023

Aguilera C, Padró-Miquel A, Esteve-Garcia A, Cerdà P, Torres-Iglesias R, Llecha N, Riera-Mestre A. Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience. Genes. 2023;14(3):772. Nonacus product: Germline Abstract Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor…

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Mutation detection in saliva from oral cancer patients | Ahmed AA, et al | Oral Oncology | Apr. 2024

By Celina Whalley / March 27, 2024 / Comments Off on Mutation detection in saliva from oral cancer patients | Ahmed AA, et al | Oral Oncology | Apr. 2024

Ahmed AA, Sborchia M, Bye H, Roman-Escorza M, Amar A, Henley-Smith R, et al. Mutation detection in saliva from oral cancer patients. Oral Oncology. 2024;151:106717. Nonacus product: Custom panels Abstract The incidence of head and neck squamous cell carcinoma (HNSCC) continues to increase and although advances have been made in treatment, it still has a…

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Circulating tumour DNA detection by the urine-informed analysis of archival serum samples from muscle-invasive bladder cancer patients | BinHumaid FS, et al | European Urology | Jan. 2024

By Celina Whalley / March 27, 2024 / Comments Off on Circulating tumour DNA detection by the urine-informed analysis of archival serum samples from muscle-invasive bladder cancer patients | BinHumaid FS, et al | European Urology | Jan. 2024

BinHumaid FS, Goel A, Gordon NS, Abbotts B, Cheng KK, Zeegers MP, et al. Circulating Tumour DNA Detection By The Urine-Informed Analysis Of Archival Serum Samples From Muscle-Invasive Bladder Cancer Patients. European Urology. 2024;S0302-2838. Nonacus product: Oncology Abstract No abstract available

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Custom panel implementation in patients with non-syndromic autism spectrum disorders in the clinical routine of a tertiary hospital | Sandoval-Talamantes AK, et al | Genes | Nov. 2023

By Celina Whalley / March 27, 2024 / Comments Off on Custom panel implementation in patients with non-syndromic autism spectrum disorders in the clinical routine of a tertiary hospital | Sandoval-Talamantes AK, et al | Genes | Nov. 2023

Sandoval-Talamantes AK, Tenorio-Castaño JA, Santos-Simarro F, Adán C, Fernández-Elvira M, García-Fernández L, et al. NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. Genes. 2023 ;14(11):2091. Nonacus product: Custom panels Abstract Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by deficiencies in…

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Analysis of genetic variability in Turner syndrome linked to long-term clinical features | Suntharalingham JP, et al | Frontiers in Endocrinology | Sep. 2023

By Celina Whalley / March 27, 2024 / Comments Off on Analysis of genetic variability in Turner syndrome linked to long-term clinical features | Suntharalingham JP, et al | Frontiers in Endocrinology | Sep. 2023

Suntharalingham JP, Ishida M, Cameron-Pimblett A, Buonocore F, del Valle I, Achermann JC. Analysis of genetic variability in Turner syndrome linked to long-term clinical features. Frontiers in Endocrinology. 2023;14:1227164. Nonacus product: Germline Abstract Women with Turner syndrome (TS) (45,X and related karyotypes) have an increased prevalence of conditions such as diabetes mellitus, obesity, hypothyroidism, autoimmunity,…

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Minimal residual disease monitoring in radically treated non-small cell lung cancer: challenges and future directions | O’Sullivan HM, et al | OncoTargets and Therapy | Dec. 2023

By Celina Whalley / March 27, 2024 / Comments Off on Minimal residual disease monitoring in radically treated non-small cell lung cancer: challenges and future directions | O’Sullivan HM, et al | OncoTargets and Therapy | Dec. 2023

O’Sullivan HM, Feber A, Popat S. Minimal residual disease monitoring in radically treated non-small cell lung cancer: challenges and future directions. OncoTargets and Therapy. 2023;249-59. Nonacus product: Oncology Abstract Circulating tumor DNA (ctDNA) analysis can identify patients with residual disease before it is clinically or radiologically evident. Minimal residual disease (MRD) is an advancing area…

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Baseline mutations and ctDNA dynamics as prognostic and predictive factors in ER-positive/HER2-negative metastatic breast cancer patients | Pascual J, et al | Clinical Cancer Research | Oct. 2023

By Celina Whalley / March 27, 2024 / Comments Off on Baseline mutations and ctDNA dynamics as prognostic and predictive factors in ER-positive/HER2-negative metastatic breast cancer patients | Pascual J, et al | Clinical Cancer Research | Oct. 2023

Pascual J, Gil-Gil M, Proszek P, Zielinski C, Reay A, Ruiz-Borrego M, et al. Baseline mutations and ctDNA dynamics as prognostic and predictive factors in ER-positive/HER2-negative metastatic breast cancer patients. Clinical Cancer Research. 2023;29(20):4166-77. Nonacus product: Oncology Abstract Prognostic and predictive biomarkers to cyclin-dependent kinases 4 and 6 inhibitors are lacking. Circulating tumor DNA (ctDNA)…

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PB2000: A comprehensive NGS panel approach for clinical genomic analysis in haematological malignancy | Mason J, et al | HemaSphere | Aug. 2023

By Celina Whalley / March 27, 2024 / Comments Off on PB2000: A comprehensive NGS panel approach for clinical genomic analysis in haematological malignancy | Mason J, et al | HemaSphere | Aug. 2023

Mason J, Skowronska A, Barrows N, Hill D, Page P, Hamblin A, Clokie S, Feber A, Hastings R, Cross N. PB2000: A comprehensive NGS panel approach for clinical genomic analysis in haematological malignancy. HemaSphere. 2023;7(S3):e76738e4. Nonacus product: Oncology Abstract Delivery of comprehensive genomic analysis in hematological malignancies (HM) has until recently relied on multiple techniques…

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Performance of DNA-based biomarkers for classification of adrenocortical carcinoma: A prognostic study | Lippert J, et al | European Journal of Endocrinology | Aug. 2023

By Celina Whalley / March 27, 2024 / Comments Off on Performance of DNA-based biomarkers for classification of adrenocortical carcinoma: A prognostic study | Lippert J, et al | European Journal of Endocrinology | Aug. 2023

Lippert J, Dischinger U, Appenzeller S, Prete A, Kircher S, Skordilis K, et al. Performance of DNA-based biomarkers for classification of adrenocortical carcinoma: A prognostic study. European Journal of Endocrinology. 2023;189(2):262-70. Nonacus product: Germline Abstract Adrenocortical carcinoma (ACC) is a rare aggressive malignancy with heterogeneous clinical outcomes. Recent studies proposed a combination of clinical/histopathological parameters…

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