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Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment
In solid tumor oncology, circulating tumor DNA (ctDNA) is poised to transform care through accurate assessment of minimal residual disease (MRD) and therapeutic response monitoring. To overcome the sparsity of...
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Open AccessEnhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing
Genomic profiling of hematologic malignancies has augmented our understanding of variants that contribute to disease pathogenesis and supported development of prognostic models that inform disease management i...
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Neoplasia risk in patients with Lynch syndrome treated with immune checkpoint blockade
Metastatic and localized mismatch repair-deficient (dMMR) tumors are exquisitely sensitive to immune checkpoint blockade (ICB). The ability of ICB to prevent dMMR malignant or pre-malignant neoplasia developme...
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Open AccessAntitumour activity of neratinib in patients with HER2-mutant advanced biliary tract cancers
HER2 mutations are infrequent genomic events in biliary tract cancers (BTCs). Neratinib, an irreversible, pan-HER, oral tyrosine kinase inhibitor, interferes with constitutive receptor kinase activation and has a...
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Open AccessReversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies
The association between loss of BRCA1/2 and a homologous recombination deficiency phenotype is lineage dependent. In BRCA-associated cancers such as breast, ovarian, pancreas and prostate, this phenotype confers ...
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Overall survival with circulating tumor DNA-guided therapy in advanced non-small-cell lung cancer
Circulating tumor DNA (ctDNA) sequencing guides therapy decisions but has been studied mostly in small cohorts without sufficient follow-up to determine its influence on overall survival. We prospectively foll...
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Open AccessERα-LBD, an isoform of estrogen receptor alpha, promotes breast cancer proliferation and endocrine resistance
Estrogen receptor alpha (ERα) drives mammary gland development and breast cancer (BC) growth through an evolutionarily conserved linkage of DNA binding and hormone activation functions. Therapeutic targeting o...
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Genomic and transcriptomic determinants of response to neoadjuvant therapy in rectal cancer
The incidence of rectal cancer is increasing in patients younger than 50 years. Locally advanced rectal cancer is still treated with neoadjuvant radiation, chemotherapy and surgery, but recent evidence suggest...
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Open AccessClinical sequencing of soft tissue and bone sarcomas delineates diverse genomic landscapes and potential therapeutic targets
The genetic, biologic, and clinical heterogeneity of sarcomas poses a challenge for the identification of therapeutic targets, clinical research, and advancing patient care. Because there are > 100 sarcoma sub...
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Open AccessTERT Copy Number Alterations, Promoter Mutations and Rearrangements in Adrenocortical Carcinomas
Molecular characterization of adrenocortical carcinomas (ACC) by The Cancer Genome Atlas (TCGA) has highlighted a high prevalence of TERT alterations, which are associated with disease progression. Herein, 78 ACC...
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Open AccessAuthor Correction: The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers
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Improved prediction of immune checkpoint blockade efficacy across multiple cancer types
Only a fraction of patients with cancer respond to immune checkpoint blockade (ICB) treatment, but current decision-making procedures have limited accuracy. In this study, we developed a machine learning model...
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Open AccessThe evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers
The efficacy of the highly selective RET inhibitor selpercatinib is now established in RET-driven cancers, and we sought to characterize the molecular determinants of response and resistance. We find that the pre...
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Open AccessAddressing uncertainty and bias in land use, land use change, and forestry greenhouse gas inventories
National greenhouse gas inventories (NGHGIs) will play an increasingly important role in tracking country progress against United Nations (UN) Paris Agreement commitments. Yet uncertainty in land use, land use...
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Open AccessMolecular and phenotypic profiling of colorectal cancer patients in West Africa reveals biological insights
Understanding the molecular and phenotypic profile of colorectal cancer (CRC) in West Africa is vital to addressing the regions rising burden of disease. Tissue from unselected Nigerian patients was analyzed w...
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The context-specific role of germline pathogenicity in tumorigenesis
Human cancers arise from environmental, heritable and somatic factors, but how these mechanisms interact in tumorigenesis is poorly understood. Studying 17,152 prospectively sequenced patients with cancer, we ...
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Open AccessClonal hematopoiesis is associated with risk of severe Covid-19
Acquired somatic mutations in hematopoietic stem and progenitor cells (clonal hematopoiesis or CH) are associated with advanced age, increased risk of cardiovascular and malignant diseases, and decreased overa...
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A quick guide for clinical oncology
Clinical interpretation of cancer genomes for therapy selection and clinical hypothesis generation is an urgent and complex endeavor. A new study brings together a diverse set of data sources to automatically ...
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Open AccessRecurrence biomarkers of triple negative breast cancer treated with neoadjuvant chemotherapy and anti-EGFR antibodies
To find metastatic recurrence biomarkers of triple-negative breast cancer (TNBC) treated by neoadjuvant chemotherapy and anti-EGFR antibodies (NAT), we evaluated tumor genomic, transcriptomic, and immune featu...
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Open AccessEnhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS
Circulating cell-free DNA from blood plasma of cancer patients can be used to non-invasively interrogate somatic tumor alterations. Here we develop MSK-ACCESS (Memorial Sloan Kettering - Analysis of Circulatin...