Barbara K. Fortini

ORCID: 0000-0003-3230-2604
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About
Contact & Profiles
Research Areas
  • Genetic Associations and Epidemiology
  • Genetic factors in colorectal cancer
  • DNA Repair Mechanisms
  • BRCA gene mutations in cancer
  • Nutrition, Genetics, and Disease
  • Carcinogens and Genotoxicity Assessment
  • Genomics and Rare Diseases
  • Cancer, Lipids, and Metabolism
  • Genetic and phenotypic traits in livestock
  • CRISPR and Genetic Engineering
  • Chronic Myeloid Leukemia Treatments
  • Cancer Immunotherapy and Biomarkers
  • Traumatic Brain Injury and Neurovascular Disturbances
  • Peroxisome Proliferator-Activated Receptors
  • Genomic variations and chromosomal abnormalities
  • Cholesterol and Lipid Metabolism
  • Acute Myeloid Leukemia Research
  • Nutritional Studies and Diet
  • Cancer Genomics and Diagnostics
  • Traumatic Brain Injury Research
  • Molecular Biology Techniques and Applications
  • Cancer-related gene regulation
  • Cancer-related molecular mechanisms research
  • Colorectal Cancer Screening and Detection
  • TGF-β signaling in diseases

Keck Graduate Institute
2018-2024

Claremont Colleges
2018

University of Southern California
2013-2016

Claremont McKenna College
2016

Southern California University for Professional Studies
2013-2014

Cancer Prevention Institute of California
2013

Fred Hutch Cancer Center
2013

University of Hawaiʻi at Mānoa
2013

University of Hawaii System
2013

Cancer Research Center
2013

Stephanie L. Schmit Christopher K. Edlund Fredrick R. Schumacher Jian Gong Tabitha A. Harrison and 95 more Jeroen R. Huyghe Chenxu Qu Marilena Melas David Van Den Berg Hansong Wang Stephanie Tring Sarah J. Plummer Demetrius Albanes M. Henar Alonso Christopher I. Amos Kristen Anton Aaron K. Aragaki Volker Arndt Elizabeth L. Barry Sonja I. Berndt Stéphane Bézieau Stephanie A. Bien Amanda M. Bloomer Juergen Boehm Marie‐Christine Boutron‐Ruault Hermann Brenner Stefanie Brezina Daniel D. Buchanan Katja Butterbach Bette J. Caan Peter T. Campbell Christopher S. Carlson Jose E. Castelao Andrew T. Chan Jenny Chang‐Claude Stephen J. Chanock Iona Cheng Ya‐Wen Cheng Lee Soo Chin James M. Church Timothy R. Church Gerhard A. Coetzee Michelle Cotterchio Marcia Cruz Correa Keith R. Curtis David Duggan Douglas F. Easton Dallas R. English Edith J. M. Feskens Rocky Fischer Liesel M. FitzGerald Barbara K. Fortini Lars G. Fritsche Charles S. Fuchs Manuela Gago‐Dominguez Manish Gala Steven Gallinger W. James Gauderman Graham G. Giles Edward L. Giovannucci Stephanie M. Gogarten Clicerio González‐Villalpando Elena M. Gonzalez-Villalpando William M. Grady Joel K. Greenson Andrea Gsur Marc J. Gunter Christopher A. Haiman Jochen Hampe Sophia Harlid John F. Harju Richard B. Hayes Philipp Hofer Michael Hoffmeister John L. Hopper Shu-Chen Huang José María Huerta Thomas J. Hudson David J. Hunter Gregory Idos Motoki Iwasaki Rebecca D. Jackson Eric J. Jacobs Sun Ha Jee Mark A. Jenkins Wei-Hua Jia Shuo Jiao Amit D. Joshi Laurence N. Kolonel Suminori Kono Charles Kooperberg Vittorio Krogh Tilman Küehn Sébastien Küry Andrea Z. LaCroix Cecelia Laurie Flavio Lejbkowicz Mathieu Lemire Heinz‐Josef Lenz David Levine

Abstract Background Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10−8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the discovery additional susceptibility may capture unexplained familial risk. Methods We conducted a GWAS in European descent CRC cases and control subjects using discovery–replication design, followed by examination novel findings multiethnic sample (cumulative n = 163 315). In stage (36 948...

10.1093/jnci/djy099 article EN JNCI Journal of the National Cancer Institute 2018-04-30

Dietary factors, including meat, fruits, vegetables and fiber, are associated with colorectal cancer; however, there is limited information as to whether these dietary factors interact genetic variants modify risk of cancer. We tested interactions between approximately 2.7 million for cancer among 9,287 cases 9,117 controls from ten studies. used logistic regression investigate multiplicative gene-diet interactions, well our recently developed Cocktail method that involves a screening step...

10.1371/journal.pgen.1004228 article EN cc-by PLoS Genetics 2014-04-17

Genome-wide association studies (GWAS) have identified 58 susceptibility alleles across 37 regions associated with the risk of colorectal cancer (CRC) P < 5×10−8. Most been conducted in non-Hispanic whites and East Asians; however, generalizability these findings potential for ethnic-specific variation Hispanic Latino (HL) individuals largely understudied. We describe first GWAS common genetic contributing to CRC HL (1611 cases 4330 controls). also examine known implement imputation-based...

10.1093/carcin/bgw046 article EN cc-by-nc Carcinogenesis 2016-04-18

Genome-wide association studies of colorectal cancer (CRC) have identified a number common variants associated with modest risk, including rs3802842 at chromosome 11q23.1. Several genes map to this region but does not any known transcribed or regulatory sequences. We reasoned, therefore, that is the functional single-nucleotide polymorphism (SNP), in linkage disequilibrium (LD) SNP(s). performed ChIP-seq for histone modifications SW480 and HCT-116 CRC cells, incorporated DNase I...

10.1093/hmg/ddt584 article EN cc-by Human Molecular Genetics 2013-11-20

Genome-wide association studies (GWAS) of colorectal cancer (CRC) have led to the identification a number common variants associated with modest risk. Several risk map within vicinity TGFβ/BMP signaling pathway genes, including rs4939827 an intron SMAD7 at 18q21.1. A previous study implicated novel SNP (novel 1 or rs58920878) as functional variant enhancer element in 4. In this study, we show that four SNPs (rs6507874, rs6507875, rs8085824, and linkage disequilibrium (LD) index demonstrate...

10.1371/journal.pone.0111914 article EN cc-by PLoS ONE 2014-11-06

Mild traumatic brain injuries (mTBIs) are one of the most prevalent neurological disorders, and humans severely limited in their ability to repair regenerate central nervous system (CNS) tissue postinjury. However, zebrafish ( Danio rerio ) maintain remarkable undergo complete functional neuroregeneration as an adult. We wish extend knowledge known mechanisms by analyzing differentially expressed genes (DEGs) a novel adult model mTBI. In this study, rodent weight drop mTBI was adapted...

10.1523/eneuro.0208-17.2017 article EN cc-by-nc-sa eNeuro 2018-01-01

We have used the Xenopus laevis egg extract system to study roles of vertebrate Dna2 in DNA replication and double-strand-break (DSB) repair. first establish that is a helicase, as well nuclease. further show nuclear protein actively recruited only after origin licensing. co-localizes foci with RPA found complex fork components And-1 Mcm10. interacts DSB repair checkpoint proteins Nbs1 ATM. also determine order arrival ATM, MRN, Dna2, TopBP1, duplex ends it same both S phase M extracts....

10.4161/cc.9.6.11049 article EN Cell Cycle 2010-03-15

Genome-wide association studies of colorectal cancer (CRC) in Europeans and Asians have identified 21 risk susceptibility regions [29 index single-nucleotide polymorphisms (SNPs)]. Characterizing these diverse racial groups with different linkage disequilibrium (LD) structure can help localize causal variants. We examined associations between CRC all 29 SNPs 6597 African Americans (1894 cases 4703 controls). Nine eight (5q31.1, 6q26-q27, 8q23.3, 8q24.21, 11q13.4, 15q13.3, 18q21.1 20p12.3)...

10.1093/hmg/ddt337 article EN Human Molecular Genetics 2013-07-12

For the last decade conceptual framework of Genome-Wide Association Study (GWAS) has dominated investigation human disease and other complex traits. While GWAS have been successful in identifying a large number variants associated with various phenotypes, overall amount heritability explained by these remains small. This raises question how best to follow up on GWAS, localize causal accounting for hits, as consequence explain more so-called "missing" heritability. Advances high throughput...

10.1186/s12864-016-2459-y article EN cc-by BMC Genomics 2016-03-03

Two processes, DNA replication and damage repair, are key to maintaining genomic fidelity. The Dna2 enzyme lies at the heart of both these acting in conjunction with flap endonuclease 1 protein A lagging strand BLM/Sgs1 MRN/X double break repair. In vitro, helicase endo/exonuclease activities require an unblocked 5' single-stranded end unwind or cleave DNA. this study we characterize a nuclease activity that does not require, fact can create, ends. Both abolished by Dna2-K677R mutation,...

10.1074/jbc.m111.243071 article EN cc-by Journal of Biological Chemistry 2011-05-14

It is widely accepted that chronic inflammation plays a role in the etiology of colorectal cancer. Using two-stage design, we examined associations between cancer and common variation 37 key genes innate immunity pathways.In discovery stage, 2,322 discordant sibships (2,535 cases, 3,915 sibling controls) from Colorectal Cancer Family Registry were genotyped for more than 600 tagSNPs 99 single-nucleotide polymorphisms (SNP) selected further examination based on strength association. In second...

10.1158/1055-9965.epi-13-0694 article EN Cancer Epidemiology Biomarkers & Prevention 2013-09-18

Several genome wide association studies of colorectal cancer (CRC) have identified single nucleotide polymorphisms (SNPs) on chromosome 15q13.3 associated with CRC risk. To identify functional variant(s) underlying this association, we investigated SNPs in linkage disequilibrium the risk-associated SNP rs4779584 that overlapped regulatory regions/enhancer elements characterized colon-related tissues and cells. We several SNP-containing regions exhibited enhancer activity vitro, including one...

10.1002/humu.24166 article EN cc-by-nc-nd Human Mutation 2021-01-21

BRAF mutations are rare in myeloid neoplasms and reported to be associated with poor treatment outcomes. The purpose of our study is characterize using a next-generation sequencing (NGS) panel based on the experiences single cancer center. We conducted retrospective review patients who underwent HopeSeq studies between January 2018 September 2023. A total 14 carrying were included cohort. clinical, pathological, molecular features these investigated. Our indicates that neoplasms,...

10.3390/ijms25105183 article EN International Journal of Molecular Sciences 2024-05-09
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