A Genome-wide Breast Cancer Scan in African Americans

2009 ◽  
Author(s):  
Christopher A. Haiman
Keyword(s):  
Breast Cancer ◽  
African Americans ◽  
Genome Wide ◽  
A Genome

A Genome-Wide Breast Cancer Scan in African Americans

2011 ◽  
Author(s):  
Christopher Haiman
Keyword(s):  
Breast Cancer ◽  
African Americans ◽  
Genome Wide ◽  
A Genome

A Genome-wide Breast Cancer Scan in African Americans

2012 ◽  
Author(s):  
Christopher A. Haiman
Keyword(s):  
Breast Cancer ◽  
African Americans ◽  
Genome Wide ◽  
A Genome

scholarly journals Identification of unique venous thromboembolism-susceptibility variants in African-Americans

2017 ◽  
Vol 117 (04) ◽  
pp. 758-768 ◽  
Author(s):  
Sebastian Armasu ◽  
Bryan McCauley ◽  
Iftikhar Kullo ◽  
Hugues Sicotte ◽  
Jyotishman Pathak ◽  
...  
Keyword(s):  
Gene Expression ◽  
Venous Thromboembolism ◽  
African Americans ◽  
Differential Expression ◽  
White Women ◽  
Genome Wide Association Study ◽  
Expression Data ◽  
Significant Differential Expression ◽  
Genome Wide ◽  
A Genome

SummaryTo identify novel single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) in African-Americans (AAs), we performed a genome-wide association study (GWAS) of VTE in AAs using the Electronic Medical Records and Genomics (eMERGE) Network, comprised of seven sites each with DNA biobanks (total ~39,200 unique DNA samples) with genome-wide SNP data (imputed to 1000 Genomes Project cosmopolitan reference panel) and linked to electronic health records (EHRs). Using a validated EHR-driven phenotype extraction algorithm, we identified VTE cases and controls and tested for an association between each SNP and VTE using unconditional logistic regression, adjusted for age, sex, stroke, site-platform combination and sickle cell risk genotype. Among 393 AA VTE cases and 4,941 AA controls, three intragenic SNPs reached genome-wide significance: LEMD3 rs138916004 (OR=3.2; p=1.3E-08), LY86 rs3804476 (OR=1.8; p=2E-08) and LOC100130298 rs142143628 (OR=4.5; p=4.4E-08); all three SNPs validated using internal cross-validation, parametric bootstrap and meta-analysis methods. LEMD3 rs138916004 and LOC100130298 rs142143628 are only present in Africans (1000G data). LEMD3 showed a significant differential expression in both NCBI Gene Expression Omnibus (GEO) and the Mayo Clinic gene expression data, LOC100130298 showed a significant differential expression only in the GEO expression data, and LY86 showed a significant differential expression only in the Mayo expression data. LEMD3 encodes for an antagonist of TGF-β-induced cell proliferation arrest. LY86 encodes for MD-1 which down-regulates the pro-inflammatory response to lipopolysaccharide; LY86 variation was previously associated with VTE in white women; LOC100130298 is a non-coding RNA gene with unknown regulatory activity in gene expression and epigenetics.Supplementary Material to this article is available online at www.thrombosis-online.com.

scholarly journals A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

2007 ◽  
Vol 39 (7) ◽  
pp. 870-874 ◽  
Author(s):  
David J Hunter ◽  
Peter Kraft ◽  
Kevin B Jacobs ◽  
David G Cox ◽  
Meredith Yeager ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Postmenopausal Breast Cancer ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome

BIOM-32. ENDOPLASMIC RETICULUM PROTEIN SSR3 DETERMINES AND PREDICTS RESPONSE TO PACLITAXEL IN BREAST CANCER AND GLIOBLASTOMA

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi17-vi18
Author(s):  
Crismita Dmello ◽  
Aarón Sonabend ◽  
Víctor Arrieta ◽  
Daniel Zhang ◽  
Deepak Kanojia ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endoplasmic Reticulum ◽  
Glioma Cells ◽  
Predictive Biomarkers ◽  
Predictive Biomarker ◽  
Precision Oncology ◽  
Patient Response ◽  
Knock Out ◽  
Genome Wide ◽  
A Genome

Abstract Paclitaxel (PTX) is one the most potent and commonly used chemotherapies for breast and pancreatic cancer. Given the potency of this drug for glioblastomas (GBM) several ongoing clinical trials are investigating means of enhancing delivery of PTX across the blood-brain barrier for this disease. In spite of the efficacy of PTX, individual tumors exhibit variable susceptibility to this drug, with response rate in the range of 30%-60%. To identify predictive biomarkers for response to PTX, we performed a genome-wide CRISPR knock-out screen using human glioma cells. The most enriched genes in the CRISPR screen underwent further selection based on their correlation with survival in the breast cancer patient cohorts treated with PTX and not in patients treated with other chemotherapies, a finding that was validated on a second independent patient cohort. This led to the discovery of endoplasmic reticulum (ER) protein SSR3 as a putative predictive biomarker for PTX. SSR3 protein levels showed positive correlation with response to PTX in breast cancer cells, glioma cells, in multiple intracranial glioma xenografts and in GBM patient derived explant cultures. Knockout of SSR3 turned the cells resistant to PTX while its overexpression sensitized the cells to PTX. In gliomas, SSR3-mediated susceptibility to PTX relates to modulation of phosphorylation of ER stress sensor IRE1α. Thus, by using genome-wide screen combined with patient response data, we discovered a biomarker that demonstrates causal and correlative relationship with response to PTX in breast cancer and GBM. Prospective validation of this biomarker is warranted for its broad implementation for precision oncology.

scholarly journals A Genome-wide siRNA Screen Identifies Proteasome Addiction as a Vulnerability of Basal-like Triple-Negative Breast Cancer Cells

Cancer Cell ◽  
2013 ◽  
Vol 24 (2) ◽  
pp. 182-196 ◽  
Author(s):  
Fabio Petrocca ◽  
Gabriel Altschuler ◽  
Shen Mynn Tan ◽  
Marc L. Mendillo ◽  
Haoheng Yan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Cells ◽  
Triple Negative Breast Cancer ◽  
Breast Cancer Cells ◽  
Triple Negative ◽  
Sirna Screen ◽  
Genome Wide ◽  
A Genome

Abstract PR12: A genome-wide shRNA screen reveals that inhibiting kinases potentiates the anti-breast cancer activity of fluvastatin

2013 ◽  
Author(s):  
Janice Pong ◽  
Aleksandra Pandyra ◽  
Carolyn Goard ◽  
Elke Ericson ◽  
Kevin Brown ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genome Wide ◽  
A Genome ◽  
Shrna Screen ◽  
Cancer Activity

Abstract 2550: A genome-wide association study of breast cancer survival according to molecular subtype in Korean women.

2013 ◽  
Author(s):  
Nan Song ◽  
Ji-Yeob Choi ◽  
Hyuna Sung ◽  
Keun-Young Yoo ◽  
Wonshik Han ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Cancer Survival ◽  
Molecular Subtype ◽  
Breast Cancer Survival ◽  
Genome Wide Association ◽  
Korean Women ◽  
Genome Wide ◽  
A Genome
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