Li, Dan
Research interests include screening and prevention of gastrointestinal cancers, with a special emphasis on colorectal and gastric cancer.
Sakoda, Lori C
Research interests include cancer epidemiology and prevention
Van Den Eeden, Stephen K.
Research interests include etiologic and outcomes studies in cancer.
Genomic and Transcriptomic Analysis of Mammographic Density
This study will combine functional data from gene expression and co-expression networks with GWAS data to elucidate the genetic determinants…
Radiomic and genomic predictors of breast cancer risk
Improving breast cancer risk prediction models could enable more personalized screening. This would enhance the benefits of screening while limiting…
Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to Improve Polygenic Risk Scores
Inadequate representation of diverse racial/ethnic populations in genetic studies is hindering the translational potential of polygenic risk scores (PRS) in…
Genetic architectures of proximal and distal colorectal cancer are partly distinct
An understanding of the etiologic heterogeneity of colorectal cancer (CRC) is critical for improving precision prevention, including individualized screening recommendations…
Smoking modifies pancreatic cancer risk loci on 2q21.3
Germline variation and smoking are independently associated with pancreatic ductal adenocarcinoma (PDAC). We conducted genome-wide smoking interaction analysis of PDAC…
Precision Prostate Cancer Screening with Genetically Adjusted Prostate-Specific Antigen Levels – DUPLICATED DO NOT ACTIVATE
An effort to more comprehensively determine the genetic factors associated with prostate-specific antigen (PSA) levels, and to develop and apply…
Multi-Ancestry Mapping of Pancreatic Cancer Susceptibility Loci
This multiple institution effort will assemble the largest set of pancreatic cases and controls to examine in detail the genetic…
Energy Balance, mTOR Pathway Signaling, and Breast Cancer Prognosis: The Pathways Study
This application will use the Pathways Study resource to investigate genetic and non-genetic factors in the interplay of energy balance,…
Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects
Susceptibility genes and the underlying mechanisms for the majority of risk loci identified by genome-wide association studies (GWAS) for colorectal…
Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts
Even distinct cancer types share biological hallmarks. Here, we investigate polygenic risk score (PRS)-specific pleiotropy across 16 cancers in European…
Association of body mass index with colorectal cancer risk by genome-wide variants
Body mass index (BMI) is a complex phenotype that may interact with genetic variants to influence colorectal cancer risk. We…
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry…
Development of a longitudinal two-biomarker algorithm for early detection of ovarian cancer in women with BRCA mutations
To develop a longitudinal algorithm combining two biomarkers, CA125 and HE4, for early detection of ovarian cancer in women with…
Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk
Mammographic density (MD) phenotypes are strongly associated with breast cancer risk and highly heritable. In this GWAS meta-analysis of 24,192…
Streamlining genetic testing for women with ovarian cancer in a Northern California health care system
Referral to Genetics for pre-testing counseling may be inefficient for women with ovarian cancer. This study assesses feasibility of gynecologic…
Pathway Analysis of Renal Cell Carcinoma Genome-Wide Association Studies Identifies Novel Associations
Much of the heritable risk of renal cell carcinoma (RCC) associated with common genetic variation is unexplained. New analytic approaches…
A Transcriptome-Wide Association Study (TWAS) Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer
Although 20 pancreatic cancer susceptibility loci have been identified through genome-wide association studies in individuals of European ancestry, much of…
Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate carcinogenic mechanisms and inform broadly applicable risk…
A polygenic risk score for breast cancer in U.S. Latinas and Latin-American women
More than 180 single nucleotide polymorphisms (SNPs) associated with breast cancer susceptibility have been identified; these SNPs can be combined…
Cumulative Burden of Colorectal Cancer-Associated Genetic Variants is More Strongly Associated With Early-onset vs Late-onset Cancer
Early-onset colorectal cancer (CRC, in persons younger than 50 years old) is increasing in incidence; yet, in the absence of…
Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses
Human studies examining associations between circulating levels of insulin-like growth factor 1 (IGF1) and insulin-like growth factor binding protein 3…
A Genome-wide Association Study of Prostate Cancer in Latinos
Latinos represent
The Role of Genetic Risk Factors in Keratinocyte Carcinoma Susceptibility
The goal of this proposal is to identify genetic loci that affect the risk of keratinocyte carcinoma, examine how environmental…
DNA repair and cancer in colon and rectum: novel players in genetic susceptibility
Interindividual differences in DNA repair systems may play a role in modulating the individual risk of developing colorectal cancer. To…
Clinical Molecular Marker Testing Data Capture to Promote Precision Medicine Research Within the Cancer Research Network
To evaluate health care systems for the availability of population-level data on the frequency of use and results of clinical…
Association of imputed prostate cancer transcriptome with disease risk reveals novel mechanisms
Here we train cis-regulatory models of prostate tissue gene expression and impute expression transcriptome-wide for 233,955 European ancestry men (14,616…
Incorporation of a Molecular Prognostic Classifier Improves Conventional Non-Small Cell Lung Cancer Staging
Despite adoption of molecular biomarkers in the management of NSCLC, the recently adopted eighth edition of the TNM staging system…
Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer
Genome-wide association studies (GWAS) identify associations of individual single-nucleotide polymorphisms (SNPs) with cancer risk but usually only explain a fraction…
Early-onset triple-negative breast cancer in multiracial/ethnic populations: Distinct trends of prevalence of truncation mutations
Young black women are at higher risk of triple-negative breast cancer (TNBC); however, a majority of the genetic studies on…
Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
Genome-wide association studies have reported 56 independently associated colorectal cancer (CRC) risk variants, most of which are non-coding and believed…
Gene Dependent Cancer Risk and Optimal Cancer Prevention Strategies in Lynch Syndrome – DUPLICATED DO NOT ACTIVATE
As part of a K training award, and within our overall colorectal cancer research program, this award will support additional…
Novel Common Genetic Susceptibility Loci for Colorectal Cancer
Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded…
System-Level Capture of Family History Data to Assess Risk of Cancer and Provide Longitudinal Care Coordination
Genetic risk and family history, which includes personal medical history, increasingly influence medical care, but optimal methods for capturing the…
Identification of novel common breast cancer risk variants at the 6q25 locus among Latinas
Breast cancer is a partially heritable trait and genome-wide association studies (GWAS) have identified over 180 common genetic variants associated…
Discovery of common and rare genetic risk variants for colorectal cancer
To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls,…
The impact of gene expression profile testing on confidence in chemotherapy decisions and prognostic expectations
Little is known about whether gene expression profile (GEP) testing and specific recurrence scores (e.g., medium risk) improve women's confidence…
Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify
MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and…
Germline and Tumor Genomic Analyses of Breast Cancer in Latinas
This project expands a consortium of studies examining germline genetic mutations in breast cancer risk in Latinas. It builds on…
Gene Dependent Cancer Risk and Optimal Cancer Prevention Strategies in Lynch Syndrome
As part of a “K” training award from the National Institutes of Health, and within the overall colorectal cancer research…
Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.
Cutaneous squamous cell carcinoma (cSCC) is a common skin cancer with genetic susceptibility loci identified in recent genome-wide association studies…
Differences in molecular features of triple-negative breast cancers based on the age at diagnosis
Although the proportion of triple-negative breast cancers (TNBCs) diagnosed among older women is low, the number of TNBC cases is…
The TGFβ-signaling pathway and colorectal cancer: associations between dysregulated genes and miRNAs
The TGFβ-signaling pathway plays an important role in the pathogenesis of colorectal cancer (CRC). Loss of function of several genes…
Common mitochondrial haplogroups and cutaneous squamous cell carcinoma risk
Background: Cutaneous squamous cell carcinoma (cSCC) is the second most common cancer in United States, and its incidence is substantially…
Mutation analysis of adenomas and carcinomas of the colon: early and late drivers
Colorectal cancer (CRC) accounts for about 8% of all new cancer cases diagnosed in the US. We used whole exome…
The p53-signaling pathway and colorectal cancer: Interactions between downstream p53 target genes and miRNAs
We examined expression of genes in the p53-signaling pathway. We determine if genes that have significantly different expression in carcinoma…
Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer
Substantial evidence supports an association between use of menopausal hormone therapy and decreased colorectal cancer (CRC) risk, indicating a role of…
Reparameterization of PAM50 expression identifies novel breast tumor dimensions and leads to discovery of a genomewide significant breast cancer locus at 12q15
Background: Breast tumor subtyping has failed to provide impact in susceptibility genetics. The PAM50 assay categorizes breast tumors into: Luminal…
Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors
Guidelines for initiating colorectal cancer (CRC) screening are based on family history but do not consider lifestyle, environmental, or genetic…
Genetic variants in the HLA class II region associated with risk of cutaneous squamous cell carcinoma
The immune system has been implicated in the pathophysiology of cutaneous squamous cell carcinoma (cSCC) as evidenced by the substantially…
MicroRNA-messenger RNA interactions involving JAK-STAT signaling genes in colorectal cancer
JAK-STAT signaling influences many downstream processes that, unchecked, contribute to carcinogenesis and metastasis. MicroRNAs (miRNAs) are hypothesized as a mechanism…
LSD1 activates a lethal prostate cancer gene network independently of its demethylase function
Medical castration that interferes with androgen receptor (AR) function is the principal treatment for advanced prostate cancer. However, clinical progression…
Dysregulated genes and miRNAs in the apoptosis pathway in colorectal cancer patients
Apoptosis is genetically regulated and involves intrinsic and extrinsic pathways. We examined 133 genes within these pathways to identify whether…
Feasibility of analyzing DNA copy number variation in breast cancer tumor specimens from 1950 to 2010: how old is too old?
The purpose of the study was to assess the feasibility of quantifying long-term trends in breast tumor DNA copy number…
Validation of an HPV DNA cervical screening test that provides expanded HPV typing
Background/Purpose As cervical cancer screening shifts from cytology to human papillomavirus (HPV) testing, a major question is the clinical value…
Cost Effectiveness of Gene Expression Profile Testing in Community Practice
Purpose Gene expression profile (GEP) testing can support chemotherapy decision making for patients with early-stage, estrogen receptor-positive, human epidermal growth…
Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer
In 2020, 146,063 deaths due to pancreatic cancer are estimated to occur in Europe and the United States combined. To…
Human Papillomavirus DNA methylation as a biomarker for cervical precancer: Consistency across 12 genotypes and potential impact on management of HPV-positive women
Human papillomavirus (HPV) DNA methylation testing is a promising triage option for women testing HPV-positive during cervical cancer screening. However,…
The NF-κB signalling pathway in colorectal cancer: associations between dysregulated gene and miRNA expression
The nuclear factor-kappa B (NF-κB) signalling pathway is a regulator of immune response and inflammation that has been implicated in…
Expression of Wnt-signaling pathway genes and their associations with miRNAs in colorectal cancer
The Wnt-signaling pathway functions in regulating cell growth and thus is involved in the carcinogenic process of several cancers, including…
Identification of fluorescence in situ hybridization assay markers for prediction of disease progression in prostate cancer patients on active surveillance
Prostate Cancer (PCa) is the second most prevalent cancer among U.S. males. In recent decades many men with low risk…
The MAPK-Signaling Pathway in Colorectal Cancer: Dysregulated Genes and Their Association With MicroRNAs
Mitogen-activated protein kinase (MAPK) pathways regulate many cellular functions including cell proliferation and apoptosis. We examined associations of differential gene…
A Biopsy-based 17-gene Genomic Prostate Score as a Predictor of Metastases and Prostate Cancer Death in Surgically Treated Men with Clinically Localized Disease
A 17-gene biopsy-based reverse transcription polymerase chain reaction assay, which provides a Genomic Prostate Score (GPS-scale 0-100), has been validated…
Common TDP1 polymorphisms in relation to survival among small cell lung cancer patients: a multicenter study from the International Lung Cancer Consortium
Purpose: DNA topoisomerase inhibitors are commonly used for treating small-cell lung cancer (SCLC). Tyrosyl-DNA phosphodiesterase (TDP1) repairs DNA damage caused…
Determining Risk of Barrett’s Esophagus and Esophageal Adenocarcinoma Based on Epidemiologic Factors and Genetic Variants
We developed comprehensive models to determine risk of Barrett's esophagus (BE) or esophageal adenocarcinoma (EAC) based on genetic and non-genetic…
The co-regulatory networks of tumor suppressor genes, oncogenes, and miRNAs in colorectal cancer
Tumor suppressor genes (TSGs) and oncogenes (OG) are involved in carcinogenesis. MiRNAs also contribute to cellular pathways leading to cancer.…
The PI3K/AKT Signaling Pathway: associations of miRNAs with dysregulated gene expression in colorectal cancer
The PI3K/AKT-signaling pathway is one of the most frequently activated signal-transduction pathways in cancer. We examined how dysregulated gene expression…
Multiple Gene-Environment Interactions on the Angiogenesis Gene-Pathway Impact Rectal Cancer Risk and Survival
Characterization of gene-environment interactions (GEIs) in cancer is limited. We aimed at identifying GEIs in rectal cancer focusing on a…
HPV16 E7 Genetic Conservation Is Critical to Carcinogenesis
Although most cervical human papillomavirus type�16 (HPV16) infections become undetectable within 1-2 years, persistent HPV16 causes half of all cervical…
Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer
Prostate-specific antigen (PSA) levels have been used for detection and surveillance of prostate cancer (PCa). However, factors other than PCa-such…
Deep sequencing of HPV16 genomes: A new high-throughput tool for exploring the carcinogenicity and natural history of HPV16 infection
For unknown reasons, there is huge variability in risk conferred by different HPV types and, remarkably, strong differences even between…
Leukocyte telomere length in relation to the risk of Barrett’s esophagus and esophageal adenocarcinoma
Chronic inflammation and oxidative damage caused by obesity, cigarette smoking, and chronic gastroesophageal reflux disease (GERD) are major risk factors…
HPV16 Sublineage Associations With Histology-Specific Cancer Risk Using HPV Whole-Genome Sequences in 3200 Women
HPV16 is a common sexually transmitted infection although few infections lead to cervical precancer/cancer; we cannot distinguish nor mechanistically explain…
Breast cancer multigene testing trends and impact on chemotherapy use
A 21-gene test that predicts recurrence risk among women with hormone receptor positive (HR+), localized breast cancer was nationally recommended…
A meta-analysis of individual participant data reveals an association between circulating levels of IGF-I and prostate cancer risk
The role of insulin-like growth factors (IGF) in prostate cancer development is not fully understood. To investigate the association between…
Polymorphisms in genes in the androgen pathway and risk of Barrett’s esophagus and esophageal adenocarcinoma
The strong male predominance in Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC) remains inadequately explained, but sex hormones might be…
CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk
Menopausal hormone therapy (MHT) use has been consistently associated with a decreased risk of colorectal cancer (CRC) in women. Our…
Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants
Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) associated with colorectal cancer risk. These SNPs may…
Common Genetic Variation and Survival after Colorectal Cancer Diagnosis: A Genome-Wide Analysis
Genome-wide association studies have identified several germline single nucleotide polymorphisms (SNPs) significantly associated with colorectal cancer (CRC) incidence. Common germline…
A newly identified susceptibility locus near FOXP1 modifies the association of gastroesophageal reflux with Barrett’s esophagus
Important risk factors for esophageal adenocarcinoma and its precursor, Barrett's esophagus, include gastroesophageal reflux disease, obesity, and cigarette smoking. Recently,…
Chronic inflammation and risk of colorectal and other obesity-related cancers: The health, aging and body composition study.
Evidence of the association between chronic inflammation and the risk of colorectal cancer (CRC) and other obesity-related cancers (OBRC) remains…
A Candidate-Pathway Approach to Identify Gene-Environment Interactions: Analyses of Colon Cancer Risk and Survival
Genetic association studies have traditionally focused on associations between individual single nucleotide polymorphisms (SNPs) and disease. Standard analysis ignores interactions…
A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences
A genome-wide association study (GWAS) of prostate cancer in Kaiser Permanente health plan members (7,783 cases, 38,595 controls; 80.3% non-Hispanic…
An evaluation and replication of miRNAs with disease stage and colorectal cancer-specific mortality
MicroRNAs (miRNAs) have been implicated in colorectal cancer (CRC) development and associated with prognostic indicators such as disease stage and…
Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants
Use of aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) is associated with lower risk of colorectal cancer. To identify common…
Association between high-sensitivity C-reactive protein (hsCRP) and change in mammographic density over time in the SWAN mammographic density subcohort
High mammographic density (MD) is a strong risk factor for breast cancer. Chronic inflammation may be related to breast cancer…
Imputation of the Rare HOXB13 G84E Mutation and Cancer Risk in a Large Population-Based Cohort
An efficient approach to characterizing the disease burden of rare genetic variants is to impute them into large well-phenotyped cohorts…
Analyzing historical trends in breast cancer biomarker expression: a feasibility study (1947-2009)
Determining long-term trends in tumor biomarker expression is essential for understanding aspects of tumor biology amenable to change. Limiting the…
Association of high obesity with PAM50 breast cancer intrinsic subtypes and gene expression
Invasive breast cancers are now commonly classified using gene expression into biologically and clinically distinct tumor subtypes. However, the role…
Red meat intake, NAT2, and risk of colorectal cancer: A pooled analysis of 11 studies
Red meat intake has been associated with risk of colorectal cancer, potentially mediated through heterocyclic amines. The metabolic efficiency of…
MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium
Incidence of esophageal adenocarcinoma (EA) has increased substantially in recent decades. Multiple risk factors have been identified for EA and…
Imputation and subset based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63…
Integrative post-genome-wide association analysis of CDKN2A and TP53 SNPs and risk of esophageal adenocarcinoma
Incidence of esophageal adenocarcinoma (EA) in Western countries has increased markedly in recent decades. Although several risk factors have been…
An analysis of genetic factors related to risk of inflammatory bowel disease and colon cancer
Patients with inflammatory bowel disease (IBD) have a higher risk of developing colorectal cancer than the general population. Genome-wide association…
Gene-environment interaction involving recently identified colorectal cancer susceptibility loci
Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) that are associated with risk of colorectal cancer. Prior research…
Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia
Genome-wide association studies (GWAS) have identified a large number of cancer-associated single nucleotide polymorphisms (SNPs), several of which have been…
Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision…
Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision…
Estimating the Heritability of Colorectal Cancer
A sizable fraction of colorectal cancer (CRC) is expected to be explained by heritable factors, with heritability estimates ranging from…
Multitarget stool DNA testing for colorectal-cancer screening.
To the Editor: Imperiale and colleagues evaluate the use of a single-application multitarget stool DNA test for colorectal-cancer screening and…
Intrinsic subtypes from PAM50 gene expression assay in a population-based breast cancer cohort: Differences by age, race, and tumor characteristics
Data are lacking to describe gene expression-based breast cancer intrinsic subtype patterns for population-based patient groups. We studied a diverse…
Intrinsic subtypes from the PAM50 gene expression assay in a population-based breast cancer survivor cohort: Prognostication of short and long term outcomes
The PAM50, a gene expression assay to categorize breast tumors into intrinsic subtypes, has not been previously used to examine…
Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia
Genome-wide association studies have identified a large number of single nucleotide polymorphisms (SNPs) associated with a wide array of cancer…
Genome-wide diet-gene interaction analyses for risk of colorectal cancer
Dietary factors, including meat, fruits, vegetables and fiber, are associated with colorectal cancer; however, there is limited information as to…
Race and breast cancer survival by intrinsic subtype based on PAM50 gene expression
To evaluate whether differences in PAM50 breast cancer (BC) intrinsic (Luminal A, Luminal B, Basal-like, and HER2-enriched) subtypes help explain…
Stem cells guided gene therapy of cancer: New frontier in personalized and targeted therapy
Introduction: Bevacizumab was approved for treatment of advanced non-squamous, non-small cell lung cancer (NSCLC) in the US in late 2006.…
Genetic Predictors of Circulating 25-Hydroxyvitamin D and Risk of Colorectal Cancer
Experimental evidence has demonstrated an antineoplastic role for vitamin D in the colon, and higher circulating 25-hydroxyvitamin D [25(OH)D] levels…
Family History of Diabetes and Pancreatic Cancer as Risk Factors for Pancreatic Cancer: The PACIFIC Study
Genetic association studies have identified more than a dozen genes associated with risk of pancreatic cancer. Given this genetic heterogeneity,…
Immunohistochemical Expression of ERG in the Molecular Epidemiology of Fatal Prostate Cancer Study
BACKGROUND: Gene fusions between the ERG transcription factor and the androgen-regulated gene TMPRSS2 occur in a subset of prostate cancers…
Phospholipase A2G1B polymorphisms and risk of colorectal neoplasia
Pancreatic phospholipase A2, product of PLA2G1B, catalyzes the release of fatty acids from dietary phospholipids.Diet is the ultimate source of…
Genetic variation in the lipoxygenase pathway and risk of colorectal neoplasia
Arachidonate lipoxygenase (ALOX) enzymes metabolize arachidonic acid to generate potent inflammatory mediators and play an important role in inflammation-associated diseases.…
Gene-diet-interactions in folate-mediated one-carbon metabolism modify colon cancer risk
SCOPE: The importance of folate-mediated one-carbon metabolism (FOCM) in colorectal carcinogenesis is emphasized by observations that high dietary folate intake…
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-Analysis
BACKGROUND & AIMS: Heritable factors contribute to the development of colorectal cancer. Identifying the genetic loci associated with colorectal tumor…
Turning of COGS moves forward findings for hormonally mediated cancers
The large-scale Collaborative Oncological Gene-environment Study (COGS) presents new findings that further characterize the genetic bases of breast, ovarian and…
DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial
Many carcinogens in tobacco smoke cause DNA damage, and some of that damage can be mitigated by the actions of…
HOXB13:IL17BR and molecular grade index and risk of breast cancer death among patients with lymph node-negative invasive disease
Studies have shown that a two-gene ratio (HOXB13:IL17BR) and a five-gene (BUB1B, CENPA, NEK2, RACGAP1, RRM2) molecular grade index (MGI)…
PTGS1, PTGS2, ALOX5, ALOX12, ALOX15, and FLAP SNPs: interaction with fatty acids in colon cancer and rectal cancer
Dietary polyunsaturated fatty acids (PUFAs) can be converted to prostaglandins and leukotrienes. Oxygenation of omega-6 PUFAs generally results in the…
Utilization of HER2 genetic testing in a multi-institutional observational study
Human epidermal growth factor receptor 2 (HER2) expression is amplified in about 20% of breast cancer tumors, and evaluation of…
Estimating kinship in admixed populations
Genome-wide association studies (GWASs) are commonly used for the mapping of genetic loci that influence complex traits. A problem that…
Glutathione peroxidase tagSNPs: Associations with rectal cancer but not with colon cancer
Glutathione peroxidases (GPXs) are selenium-dependent enzymes that reduce and, thus, detoxify hydrogen peroxide and a wide variety of lipid hydroperoxides.…
Genetic Variation in the Transforming Growth Factor-beta-Signaling Pathway, Lifestyle Factors, and Risk of Colon or Rectal Cancer
BACKGROUND: The transforming growth factor-beta-signaling pathway has been identified as being involved in colorectal cancer. OBJECTIVE: The aim of this…
Characterization of gene-environment interactions for colorectal cancer susceptibility loci
Genome-wide association studies (GWAS) have identified more than a dozen loci associated with colorectal cancer (CRC) risk. Here, we examined…
Association between serum interleukin-6 concentrations and mortality in older adults: the Rancho Bernardo study.
BACKGROUND: Interleukin-6 (IL-6) may have a protective role in acute liver disease but a detrimental effect in chronic liver disease.…
Genetic variability in IL23R and risk of colorectal adenoma and colorectal cancer
Inflammatory processes, including, specifically, the inflammatory conditions Crohn's disease (CD) and ulcerative colitis (UC) predispose to colorectal cancer. Interleukin-23 is…
Meta-analysis of new genome-wide association studies of colorectal cancer risk
Colorectal cancer is the second leading cause of cancer death in developed countries. Genome-wide association studies (GWAS) have successfully identified…
Genome-wide search for gene-gene interactions in colorectal cancer
Genome-wide association studies (GWAS) have successfully identified a number of single-nucleotide polymorphisms (SNPs) associated with colorectal cancer (CRC) risk. However,…
Genetic variability in EGFR, Src and HER2 and risk of colorectal adenoma and cancer
The EGFR signaling pathway is involved in carcinogenesis at multiple sites, particularly colorectal cancer, and is a target of colorectal…
Genetic variation in the transforming growth factor-beta signaling pathway and survival after diagnosis with colon and rectal cancer
BACKGROUND: The transforming growth factor-beta (TGF-beta) signaling pathway is involved in many aspects of tumorigenesis, including angiogenesis and metastasis. The…
Variation in the CYP19A1 gene and risk of colon and rectal cancer
CYP19A1, or aromatase, influences estrogen-metabolizing enzymes and may influence cancer risk. We examine variation in the CYP19A1 gene and risk…
Genetic variation in C-reactive protein in relation to colon and rectal cancer risk and survival
C-reactive protein (CRP), a biomarker of inflammation, has been shown to be influenced by genetic variation in the CRP gene.…
Associations between genetic variation in RUNX1, RUNX2, RUNX3, MAPK1 and eIF4E and riskof colon and rectal cancer: additional support for a TGF-beta-signaling pathway
The Runt-related transcription factors (RUNX), mitogen-activated protein kinase (MAPK) 1 and eukaryotic translation initiation factor 4E (eIF4E) are potentially involved…
Genetic variation in bone morphogenetic protein and colon and rectal cancer
Bone morphogenetic proteins (BMP) are part of the TGF-beta-signaling pathway; genetic variation in these genes may be involved in colorectal…
Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations
We examined candidate polymorphisms in genes involved in the folate-mediated, one-carbon metabolism pathway, DNMT1 1311V, MTHFD1 R134K and R653Q, MTHFR…
Characterization of 9p24 risk locus and colorectal adenoma and cancer: gene-environment interaction and meta-analysis
BACKGROUND: A potential susceptibility locus for colorectal cancer on chromosome 9p24 (rs719725) was initially identified through a genome-wide association study,…
Using a family systems approach to investigate cancer risk communication within melanoma families
OBJECTIVE: The family provides an important communication nexus for information and support exchange about family cancer history, and adoption of…
Evidence for an hMSH3 defect in familial hamartomatous polyps.
BACKGROUND: Patients with hamartomatous polyposis syndromes have increased risk for colorectal cancer (CRC). Although progression of polyps to carcinoma is…
Diet, physical activity, and body size associations with rectal tumor mutations and epigenetic changes
Diet and lifestyle factors have been inconsistently associated with rectal tumors. It is possible that evaluation of specific tumor markers…
Alcohol consumption and rectal tumor mutations and epigenetic changes
PURPOSE: An association between alcohol and rectal cancer has been reported in the epidemiological literature. In this study we further…
Breast cancer DNA methylation profiles are associated with tumor size and alcohol and folate intake
Although tumor size and lymph node involvement are the current cornerstones of breast cancer prognosis, they have not been extensively…
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33
We conducted a genome-wide association study of pancreatic cancer in 3,851 affected individuals (cases) and 3,934 unaffected controls drawn from…
Increased risk of colon cancer associated with a genetic polymorphism of SMAD7
Genome-wide association studies (GWAS) have identified SMAD7 on 8q21 as being associated with colorectal cancer. We evaluated single nucleotide polymorphisms…
Characterization of the association between 8q24 and colon cancer: gene-environment exploration and meta-analysis
BACKGROUND: Genome-wide association studies and subsequent replication studies have shown that single nucleotide polymorphisms (SNPs) in the chromosomal region 8q24…
Calcium, vitamin D, VDR genotypes, and epigenetic and genetic changes in rectal tumors
Calcium, vitamin D, exposure to sunshine, and vitamin D receptor (VDR) genotypes have been associated rectal cancer. We used data…
Variation in the FGFR2 gene and the effect of a low-fat dietary pattern on invasive breast cancer
BACKGROUND: The Women's Health Initiative dietary modification (DM) trial provided suggestive evidence of a benefit of a low-fat dietary pattern…
Activin signaling in microsatellite stable colon cancers is disrupted by a combination of genetic and epigenetic mechanisms.
BACKGROUND: Activin receptor 2 (ACVR2) is commonly mutated in microsatellite unstable (MSI) colon cancers, leading to protein loss, signaling disruption,…
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer
We conducted a two-stage genome-wide association study of pancreatic cancer, a cancer with one of the lowest survival rates worldwide.…
Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways
Variation in genes associated with serum levels of proteins may be useful for examining specific disease pathways. Using data from…
Oncogenetic tree model of somatic mutations and DNA methylation in colon tumors
Our understanding of somatic alterations in colon cancer has evolved from a concept of a series of events taking place…
Genetic variation in calcium-sensing receptor and risk for colon cancer
BACKGROUND: Experimental and epidemiologic studies have suggested that high calcium intake is associated with decreased colon cancer risk, yet very…
Transcription factor 7-like 2 polymorphism and colon cancer
Polymorphisms of the transcription factor 7-like 2 (TCF7L2) gene have been associated with insulin sensitivity and diabetes, and the TCF7L2…
Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet
This study investigated associations between CpG island methylator phenotype (CIMP) colon cancer and genetic polymorphisms relevant to one-carbon metabolism and…
Interactions between CYP2C9 and UGT1A6 polymorphisms and nonsteroidal anti-inflammatory drugs in colorectal cancer prevention
BACKGROUND AND AIMS: Variant genotypes of uridine diphosphate glucuronsyltransferase isoenzyme 1A6 (UGT1A6) associated with decreased metabolic activity have been associated…
Associations between vitamin D, vitamin D receptor gene and the androgen receptor gene with colon and rectal cancer
The transcriptional activity of the vitamin D receptor (VDR) gene is regulated, at least in part, by the androgen receptor…
PPARgamma and colon and rectal cancer: associations with specific tumor mutations, aspirin, ibuprofen and insulin-related genes (United States)
We hypothesize that the peroxisome proliferator-activated receptor-gamma (PPARgamma) is associated with colorectal cancer given its association with insulin, diabetes, obesity,…
Haplotype analysis of common vitamin D receptor variants and colon and rectal cancers
Inherited variants of the vitamin D receptor (VDR) gene may influence cancer risk by altering the effect of vitamin D…
Vitamin D receptor gene polymorphisms, dietary promotion of insulin resistance, and colon and rectal cancer
Modifiable risk factors in colorectal cancer etiology and their interactions with genetic susceptibility are of particular interest. Functional vitamin D…
A population-based study of tumor gene expression and risk of breast cancer death among lymph node-negative patients
INTRODUCTION: The Oncotype DX assay was recently reported to predict risk for distant recurrence among a clinical trial population of…
Associations between ERalpha, ERbeta, and AR genotypes and colon and rectal cancer
Estrogen and androgens are thought to be involved in the etiology of colorectal cancer. We evaluate genetic variants of the…
MTHFR variants reduce the risk of G:C->A:T transition mutations within the p53 tumor suppressor gene in colon tumors
5,10-Methylene-tetrahydrofolate reductase (MTHFR) is a key enzyme in folate-mediated 1-carbon metabolism. Reduced MTHFR activity has been associated with genomic DNA…
Evaluation of a large, population-based sample supports a CpG island methylator phenotype in colon cancer
BACKGROUND & AIMS: The concept of a CpG island methylator phenotype (CIMP), especially in microsatellite stable colon cancer, is not…
Associations between apoE genotype and colon and rectal cancer
Apolipoprotein E (apoE) plays a major role in the metabolism of bile acids, cholesterol and triglycerides, and has recently been…
Insulin-like growth factor pathway polymorphisms associated with body size in Hispanic and non-Hispanic white women
Polymorphisms affecting insulin-like growth factors (IGF), their binding proteins (IGFBP), insulin receptor substrates (IRS), and other IGF regulatory molecules may…
Energy balance, insulin-related genes and risk of colon and rectal cancer
Energy balance, or the ability to maintain body weight by balancing energy intake with energy expenditure, appears to be important…
Interactions of peroxisome proliferator-activated receptor {gamma} and diet in etiology of colorectal cancer
The peroxisome proliferator-activated receptor gamma (PPARgamma) is one of a group of ligand-activated nuclear receptors responsible for regulation of glucose,…
The CYP1A1 genotype may alter the association of meat consumption patterns and preparation with the risk of colorectal cancer in men and women
We hypothesized that the risk of colorectal cancer associated with meat preparation methods producing heterocyclic amines or polycyclic aromatic hydrocarbons…
PPARgamma, energy balance, and associations with colon and rectal cancer
Peroxisome proliferator-activated receptor-gamma (PPARgamma) has been hypothesized as being involved in colorectal cancer given its role in adipocyte development and…
Associations between BMI, energy intake, energy expenditure, VDR genotype and colon and rectal cancers (United States)
Components of energy balance are important elements associated with colorectal cancer risk. In this study we examine the association between…
The evolution to stool DNA testing for colorectal cancer
Despite a variety of screening strategies and recent trends showing death rate stabilization, colorectal cancer still remains the second leading…
Meat consumption patterns and preparation, genetic variants of metabolic enzymes, and their association with rectal cancer in men and women
Meat consumption, particularly of red and processed meat, is one of the most thoroughly studied dietary factors in relation to…
MTHFR C677T and A1298C polymorphisms: diet, estrogen, and risk of colon cancer
5,10-methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism, diverting metabolites toward methylation reactions or nucleotide synthesis. Using data…
Initial treatment for prostate carcinoma in relation to comorbidity and symptoms
BACKGROUND: Evidence suggests the type of treatment received for prostate carcinoma is associated with comorbidity, but little information is available…
CagA status of Helicobacter pylori infection and p53 gene mutations in gastric adenocarcinoma
Infection with Helicobacter pylori (H. pylori) increases stomach cancer risk. Helicobacter pylori strains with the cag pathogenicity island (PAI) induce…
Interplay between dietary inducers of GST and the GSTM-1 genotype in colon cancer
The purpose of this study is to determine if cruciferous vegetables and coffee, two dietary inducers of glutatione-S-transferases, interact with…
Western diet, family history of colorectal cancer, NAT2, GSTM-1 and risk of colon cancer
OBJECTIVE: In this study we examine the combined effects of Western diet, age at diagnosis, and genetic susceptibility. METHODS: We…
