20 Result(s)
within
Michael F Berger
Human Genetics
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Article
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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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 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 AccessTumor 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...
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The association between tumor mutational burden and prognosis is dependent on treatment context
In multiple cancer types, high tumor mutational burden (TMB) is associated with longer survival after treatment with immune checkpoint inhibitors (ICIs). The association of TMB with survival outside of the imm...
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Cancer therapy shapes the fitness landscape of clonal hematopoiesis
Acquired mutations are pervasive across normal tissues. However, understanding of the processes that drive transformation of certain clones to cancer is limited. Here we study this phenomenon in the context of...
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Open AccessPIK3CA 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...
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Tumor mutational load predicts survival after immunotherapy across multiple cancer types
Immune checkpoint inhibitor (ICI) treatments benefit some patients with metastatic cancers, but predictive biomarkers are needed. Findings in selected cancer types suggest that tumor mutational burden (TMB) ma...
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Article
Genome doubling shapes the evolution and prognosis of advanced cancers
Ploidy abnormalities are a hallmark of cancer, but their impact on the evolution and outcomes of cancers is unknown. Here, we identified whole-genome doubling (WGD) in the tumors of nearly 30% of 9,692 prospec...
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Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations
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Article
Open AccessComprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing
The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mu...
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Open AccessDelivering on the promise of precision cancer medicine
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Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancer
David Solit and colleagues report that inactivating CDH1 mutations are found in 84% of plasmacytoid bladder cancer samples tested and are not found in other bladder cancer subtypes. CRISPR/Cas9-mediated knockout ...
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Open AccessSomatic mutations in leukocytes infiltrating primary breast cancers
Malignant transformation requires the interaction of cancer cells with their microenvironment, including infiltrating leukocytes. However, somatic mutational studies have focused on alterations in cancer cells...
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Article
PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors
** Chi and colleagues identify recurrent inactivating mutations in the PRC2 core components EED and SUZ12 in malignant peripheral nerve sheath tumors. They further show that PRC2 loss is associated with loss of...
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Article
Open AccessComparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions
Colorectal cancer is the second leading cause of cancer death in the United States, with over 50,000 deaths estimated in 2014. Molecular profiling for somatic mutations that predict absence of response to anti...
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Open AccessAdvancing clinical oncology through genome biology and technology
The use of genomic technologies for the molecular characterization of tumors has propelled our understanding of cancer biology and is transforming the way patients with cancer are diagnosed and treated.
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Article
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary
Douglas Levine and colleagues identify recurrent inactivating mutations in the SWI/SNF complex member SMARCA4 in 12 of 12 samples of small cell carcinoma of the ovary, hypercalcemic type. These findings open the ...
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Article
Open AccessTargeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts
Targeted RNA-Seq combines next-generation sequencing with capture of sequences from a relevant subset of a transcriptome. When testing by capturing sequences from a tumor cDNA library by hybridization to oligo...
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Rapid analysis of the DNA-binding specificities of transcription factors with DNA microarrays
We developed a new DNA microarray-based technology, called protein binding microarrays (PBMs), that allows rapid, high-throughput characterization of the in vitro DNA binding–site sequence specificities of transc...
