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Simon A. Gayther
University of Southern California
344Publications
63H-index
16.9kCitations
Publications 349
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Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for...
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Summary Fallopian tube secretory epithelial cells (FTSECs) are likely the main precursor cell type of high-grade serous ovarian cancers (HGSOCs), but these tumors may also arise from ovarian surface epithelial cells (OSECs). We profiled global landscapes of gene expression and active chromatin to characterize molecular similarities between OSECs (n = 114), FTSECs (n = 74), and HGSOCs (n = 394). A one-class machine learning algorithm predicts that most HGSOCs derive from FTSECs, with particularly...
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#1Nicholas Mancuso (UCLA: University of California, Los Angeles)H-Index: 13
#2Simon A. Gayther (Cedars-Sinai Medical Center)H-Index: 63
Last.Esther M. John (Stanford University)H-Index: 75
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The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article. Furthermore, In the original HTML version of this Article, the order of authors within the author list was incorrect. The consortium PRACTICAL consortium was incorrectly listed after Bogdan Pasaniuc and should have been listed aft...
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#1Xia Jiang (KI: Karolinska Institutet)H-Index: 6
#2Hilary K. Finucane (Broad Institute)H-Index: 29
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
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#1Xia Jiang (KI: Karolinska Institutet)H-Index: 6
#2Hilary K. Finucane (Broad Institute)H-Index: 29
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
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#1Alberto Luiz P. Reyes (Cedars-Sinai Medical Center)
#2Tiago C. Silva (Cedars-Sinai Medical Center)H-Index: 7
Last.Michelle R. Jones (Cedars-Sinai Medical Center)H-Index: 19
view all 11 authors...
The development of next generation sequencing (NGS) methods led to a rapid rise in the generation of large genomic datasets, but the development of user-friendly tools to analyze and visualize these datasets has not developed at the same pace. This presents a two-fold challenge to biologists; the expertise to select an appropriate data analysis pipeline, and the need for bioinformatics or programming skills to apply this pipeline. The development of graphical user interface (GUI) applications ho...
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Epithelial ovarian cancer (OC) is a heterogeneous disease that stratifies into different histologic subtypes including high-grade serous (HGSOC), clear cell (CCOC), endometrioid (EnOC) and mucinous (MOC) ovarian cancer. HGSOC is the most common, and each histotype is characterized by largely distinct germline genetics, somatic alterations and clinical biomarkers. Recently, whole genome sequencing (WGS) studies have catalogued genome-wide somatic variation for most OC histotypes. These data demon...
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The function of critical developmental regulators can be subverted by cancer cells to control expression of oncogenic transcriptional programs. These "master transcription factors" (MTFs) are often essential for cancer cell survival and represent vulnerabilities that can be exploited therapeutically. The current approaches to identify candidate MTFs examine super-enhancer associated transcription factor-encoding genes with high connectivity in network models. This relies on chromatin immunopreci...
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#1Haoyu Zhang (Johns Hopkins University)H-Index: 3
#2Thomas U. Ahearn (NIH: National Institutes of Health)H-Index: 11
Last.Nilanjan Chatterjee (Johns Hopkins University)H-Index: 74
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Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study (GWAS) including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth fac...
1 CitationsSource
#1Xia JiangH-Index: 6
#2Hilary K. FinucaneH-Index: 29
Last.Sara LindstroemH-Index: 46
view all 333 authors...
textabstractAn amendment to this paper has been published and can be accessed via a link at the top of the paper.
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