Irene L. Andrulis
A5051193305- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Cancer Risks and Factors
- Cancer Genomics and Diagnostics
- Nutritional Studies and Diet
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Sarcoma Diagnosis and Treatment
- RNA modifications and cancer
- Breast Cancer Treatment Studies
- Ovarian cancer diagnosis and treatment
- Global Cancer Incidence and Screening
- Molecular Biology Techniques and Applications
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Cancer-related molecular mechanisms research
- Gene expression and cancer classification
- Cancer-related Molecular Pathways
- Cancer Immunotherapy and Biomarkers
- Bioinformatics and Genomic Networks
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
Lunenfeld-Tanenbaum Research Institute
2015-2024
University of Toronto
2015-2024
Mount Sinai Hospital
2015-2024
Sinai Health System
2016-2024
Cancer Genetics (United States)
2011-2023
Sinai Hospital
1987-2023
Stanford University
2013-2022
Cancer Research Center
2010-2021
University of Manchester
2021
St Mary's Hospital
2021
<h3>Importance</h3> The clinical management of<i>BRCA1</i>and<i>BRCA2</i>mutation carriers requires accurate, prospective cancer risk estimates. <h3>Objectives</h3> To estimate age-specific risks of breast, ovarian, and contralateral breast for mutation to evaluate modification by family history location. <h3>Design, Setting, Participants</h3> Prospective cohort study 6036<i>BRCA1</i>and 3820<i>BRCA2</i>female (5046 unaffected 4810 with or ovarian both at baseline) recruited in 1997-2011...
Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...
The resistance of tumor cells to chemotherapeutic drugs is a major obstacle successful cancer chemotherapy. In human cells, expression the MDR1 gene, encoding transmembrane efflux pump (P-glycoprotein), leads decreased intracellular accumulation and variety lipophilic (multidrug resistance; MDR). levels MDR in cell lines selected vitro have been shown correlate with steady-state mRNA P-glycoprotein. severalfold increase cellular drug resistance, are close limits detection by conventional...
Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone (PR) expression status of the tumors.
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or the miRNA binding sites may affect dependent gene expression regulation, which has been implicated various cancers, including breast cancer, and alter individual susceptibility to cancer. We investigated associations between related SNPs cancer risk. First we evaluated 2,196 a case-control study combining nine genome wide association studies (GWAS). Second, further 42 with suggestive evidence for using...
Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....
PURPOSE More than 90% of Ewing's sarcomas (ES) contain a fusion the EWS and FLI1 genes, due to t(11;22)(q24;q12) translocation. At molecular level, EWS-FLI1 rearrangements show great diversity. Specifically, many different combinations exons from encode in-frame transcripts result in differences length composition chimeric protein, which functions as an oncogenic aberrant transcription factor. In most common type (type 1), exon 7 is linked frame with 6 FLI1. As fundamental pathogenetic...
Amplification of the human epidermal growth factor receptor type 2 (HER2, also called HER2/neu) gene and overexpression its product in breast-cancer cells may be associated with responsiveness to anthracycline-containing chemotherapy regimens.In randomized, controlled Mammary.5 trial, we studied 639 formalin-fixed paraffin-embedded specimens obtained from 710 premenopausal women node-positive breast cancer who had received either cyclophosphamide, epirubicin, fluorouracil (CEF) or...
The product of the MYC oncogene is widely deregulated in cancer and functions as a regulator gene transcription. Despite an extensive profile regulated genes, transcriptional targets c-Myc essential for transformation remain unclear. In this study, we show that significantly induces expression H19 noncoding RNA diverse cell types, including breast epithelial, glioblastoma, fibroblast cells. binds to evolutionarily conserved E-boxes near imprinting control region facilitate histone...
PURPOSE It remains a challenge to predict which women with axillary node-negative (ANN) breast cancer at greatest risk of relapse may benefit most from adjuvant therapy. Increases in neu/erbB-2 have been implicated prognosis. Although overexpression has investigated extensively, this study represents the first prospective assessment prognostic value DNA amplification cohort newly diagnosed ANN. METHODS A consecutive series was monitored for recurrence (median follow-up duration, 36 months)...
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...
An oncohistone deranges inhibitory chromatin Missense mutations (that change one amino acid for another) in histone H3 can produce a so-called and are found number of pediatric cancers. For example, the lysine-36–to-methionine (K36M) mutation is seen almost all chondroblastomas. Lu et al. show that K36M mutant histones oncogenic, they inhibit normal methylation this same residue wild-type histones. The also interfere with development bone-related cells deposition marks. Science , issue p. 844
PURPOSE To estimate age-specific relative and absolute cancer risks of breast to ovarian, pancreatic, male breast, prostate, colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these have not been extensively characterized. METHODS We analyzed data from 524 families PVs 21 countries. Complex segregation analysis was used (RRs; country-specific population incidences) cancers. The models allowed for residual familial aggregation ovarian were adjusted the...