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  1. No Access

    Article

    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...

    Adam J. Widman, Minita Shah, Amanda Frydendahl, Daniel Halmos in Nature Medicine (2024)

  2. Article

    Open Access

    Enhanced 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...

    Ryan N. Ptashkin, Mark D. Ewalt, Gowtham Jayakumaran, Iwona Kiecka in Nature Communications (2023)

  3. No Access

    Article

    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...

    Emily C. Harrold, Michael B. Foote, Benoit Rousseau, Henry Walch in Nature Medicine (2023)

  4. Article

    Open Access

    Antitumour 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...

    James J. Harding, Sarina A. Piha-Paul, Ronak H. Shah in Nature Communications (2023)

  5. Article

    Open Access

    Reversion 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 ...

    Yonina R. Murciano-Goroff, Alison M. Schram, Ezra Y. Rosen in Nature Communications (2022)

  6. No Access

    Article

    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...

    Justin Jee, Emily S. Lebow, Randy Yeh, Jeeban P. Das, Azadeh Namakydoust in Nature Medicine (2022)

  7. Article

    Open Access

    ERα-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...

    Antonio Strillacci, Pasquale Sansone, Vinagolu K. Rajasekhar in npj Breast Cancer (2022)

  8. No Access

    Article

    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...

    Walid K. Chatila, ** K. Kim, Henry Walch, Michael R. Marco in Nature Medicine (2022)

  9. Article

    Open Access

    Clinical 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...

    Benjamin A. Nacev, Francisco Sanchez-Vega, Shaleigh A. Smith in Nature Communications (2022)

  10. Article

    Open Access

    TERT 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...

    Sounak Gupta, Helen Won, Kalyani Chadalavada, Gouri J. Nanjangud in Endocrine Pathology (2022)

  11. Article

    Open Access

    Author Correction: The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers

    Ezra Y. Rosen, Helen H. Won, Youyun Zheng, Emiliano Cocco in Nature Communications (2022)

  12. No Access

    Article

    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...

    Diego Chowell, Seong-Keun Yoo, Cristina Valero, Alessandro Pastore in Nature Biotechnology (2022)

  13. Article

    Open Access

    The 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...

    Ezra Y. Rosen, Helen H. Won, Youyun Zheng, Emiliano Cocco in Nature Communications (2022)

  14. Article

    Open Access

    Addressing 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...

    Emily McGlynn, Serena Li, Michael F. Berger, Meredith Amend in Climatic Change (2022)

  15. Article

    Open Access

    Molecular 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...

    Olusegun Isaac Alatise, Gregory C. Knapp, Avinash Sharma in Nature Communications (2021)

  16. No Access

    Article

    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 ...

    Preethi Srinivasan, Chaitanya Bandlamudi, Philip Jonsson, Yelena Kemel in Nature Genetics (2021)

  17. Article

    Open Access

    Clonal 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...

    Kelly L. Bolton, Youngil Koh, Michael B. Foote, Hogune Im in Nature Communications (2021)

  18. No Access

    Article

    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 ...

    Ahmet Zehir, Michael F. Berger in Nature Cancer (2021)

  19. Article

    Open Access

    Recurrence 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...

    Nina Radosevic-Robin, Pier Selenica, Yingjie Zhu, Helen H. Won in npj Breast Cancer (2021)

  20. Article

    Open Access

    Enhanced 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...

    A. Rose Brannon, Gowtham Jayakumaran, Monica Diosdado, Juber Patel in Nature Communications (2021)

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