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  1. 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)

  2. 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)

  3. 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)

  4. Article

    Open Access

    Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients

    Cell-free DNA (cfDNA) profiling is increasingly used to guide cancer care, yet mutations are not always identified. The ability to detect somatic mutations in plasma depends on both assay sensitivity and the f...

    Dana W. Y. Tsui, Michael L. Cheng, Maha Shady, Julie L. Yang in Genome Medicine (2021)

  5. Article

    Open Access

    PIK3CA and MAP3K1 alterations imply luminal A status and are associated with clinical benefit from pan-PI3K inhibitor buparlisib and letrozole in ER+ metastatic breast cancer

    Clinical trials have demonstrated the efficacy of combining phosphoinositide 3-kinase (PI3K) inhibitors with endocrine therapies in hormone therapy-refractory breast cancer. However, biomarkers of PI3K pathway...

    Mellissa J. Nixon, Luigi Formisano, Ingrid A. Mayer in npj Breast Cancer (2019)

  6. Article

    Author Correction: HER kinase inhibition in patients with HER2- and HER3-mutant cancers

    The ‘Competing interests’ statement of this Article has been updated; please see the accompanying Amendment. The original Article has not been corrected online.

    David M. Hyman, Sarina A. Piha-Paul, Helen Won, Jordi Rodon, Cristina Saura in Nature (2019)

  7. No Access

    Article

    HER kinase inhibition in patients with HER2- and HER3-mutant cancers

    Somatic mutations of ERBB2 and ERBB3 (which encode HER2 and HER3, respectively) are found in a wide range of cancers. Preclinical modelling suggests that a subset of these mutations lead to constitutive HER2 acti...

    David M. Hyman, Sarina A. Piha-Paul, Helen Won, Jordi Rodon, Cristina Saura in Nature (2018)

  8. No Access

    Article

    Overcoming mTOR resistance mutations with a new-generation mTOR inhibitor

    Inhibitors of the mTOR kinase are in clinical trials for the treatment of cancer; here, mutations in mTOR that can lead to drug resistance are investigated and the results are used to design a new class of mTO...

    Vanessa S. Rodrik-Outmezguine, Masanori Okaniwa, Zhan Yao, Chris J. Novotny in Nature (2016)

  9. No Access

    Article

    ESR1 ligand-binding domain mutations in hormone-resistant breast cancer

    Sarat Chandarlapaty and colleagues report the identification of mutations in the ESR1 gene affecting the ligand-binding domain of the encoded estrogen receptor in 20% of metastatic hormone-resistant breast cancer...

    Weiyi Toy, Yang Shen, Helen Won, Bradley Green, Rita A Sakr, Marie Will in Nature Genetics (2013)

  10. Article

    Open Access

    The transhepatic endotoxin gradient is present despite liver cirrhosis and is attenuated after transjugular portosystemic shunt (TIPS).

    Translocation of gut-derived bacterial products such as endotoxin is a major problem in liver cirrhosis.

    Daniel Benten, Julian Schulze zur Wiesch, Karsten Sydow in BMC Gastroenterology (2011)