Cancer Incidence in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) - The Onco-SOL Ancillary Study.

Background: Few studies have examined how cancer incidence varies by country of origin among United States Hispanic/Latino adults. Herein, we describe the incidence rates of cancer overall and for screen-detectable, tobacco-related, and obesity-related cancers among 16,415 participants in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), an ongoing population-based cohort study of Hispanic/Latino adults from diverse backgrounds.

Methods: Cohort participant records were linked to the state cancer registries in New York, Florida, California, and Illinois to ascertain cancer incidence from baseline (2008-2011) through 2021.

Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.

Genome-wide association studies have identified approximately 200 genetic risk loci for breast cancer, but the causal variants and target genes are mostly unknown. We sought to fine-map all known breast cancer risk loci using genome-wide association study data from 172,737 female breast cancer cases and 242,009 controls of African, Asian and European ancestry. We identified 332 independent association signals for breast cancer risk, including 131 signals not reported previously, and for 50 of them, we narrowed the credible causal variants down to a single variant.

Capturing Catchment Area Data Comprehensively: The North Carolina Cancer Health Assets and Needs Assessment (CHANA) Approach.

Background: A key requirement of community outreach and engagement offices within National Cancer Institute-designated cancer centers is to conduct a comprehensive examination of their catchment area's population, cancer burden, and assets. To accomplish this task, we describe the plan for implementing our initiative, the Cancer Health Assets and Needs Assessment (CHANA). CHANA compiles, into a single source, up-to-date data that describes the cancer landscape of North Carolina's 100 counties.

The effect of body mass index at diagnosis on survival of patients with squamous cell head and neck carcinoma.

The aim of this study is to investigate the prognostic role of body mass index (BMI) on survival from head and neck cancer (HNC). We performed a pooled analysis of studies included in the International Head and Neck Cancer Epidemiology consortium. We used Cox proportional hazards models to estimate the adjusted hazard ratios (HR) for overall survival and HNC-specific survival, and we stratified the results according to cancer site.

Cross-ancestral GWAS identifies 29 novel variants across Head and Neck Cancer subsites.

In this multi-ancestry genome-wide association study (GWAS) and fine mapping study of head and neck squamous cell carcinoma (HNSCC) subsites, we analysed 19,073 cases and 38,857 controls and identified 29 independent novel loci. We provide robust evidence that a 3' UTR variant in (rs78378222, T>G) confers a 40% reduction in odds of developing overall HNSCC. We further examine the gene-environment relationship of and variants demonstrating their effects act through both smoking and alcohol use.

Comparison of surgical margins and adjuvant therapy for head and neck cancer by hospital type.

Background: Differences in patient populations and outcomes by hospital type are becoming increasingly relevant as health care systems shift to value-based care models. There is a paucity of literature on patient-level and hospital-level differences for patients with head and neck squamous cell carcinoma (HNSCC). The objective of this study was to examine differences in patient characteristics, surgical margins, and adjuvant therapy patterns for surgically treated HNSCC across different hospital types.

Regulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

Survival of Children With Critical Congenital Heart Defects in the National Birth Defects Prevention Study.

Background: Critical congenital heart defects (CCHDs) are associated with considerable morbidity and mortality. This study estimated survival of children with nonsyndromic CCHDs and evaluated relationships between exposures of interest and survival by CCHD severity (univentricular or biventricular function).

Methods: This analysis included 4380 infants with CCHDs (cases) born during 1999-2011 and enrolled in the National Birth Defects Prevention Study, a multisite, population-based case-control study of major birth defects.

Smoking and alcohol by HPV status in head and neck cancer: a Mendelian randomization study.

HPV-positive and HPV-negative head and neck squamous cell carcinoma (HNSCC) are recognized as distinct entities. There remains uncertainty surrounding the causal effects of smoking and alcohol on the development of these two cancer types. Here we perform multivariable Mendelian randomization (MR) to evaluate the causal effects of smoking and alcohol on the risk of HPV-positive and HPV-negative HNSCC in 3431 cases and 3469 controls.

The University of North Carolina Cancer Survivorship Cohort: A Resource for Collaborative Survivorship Research.

Background: Rapid growth in the number of US cancer survivors drives the need for ongoing research efforts to improve outcomes and experiences after cancer. In this study, we describe the University of North Carolina (UNC) Cancer Survivorship Cohort, a medical center-based cohort of adults with cancer that integrates medical record-abstracted cancer information, patient-reported outcomes, and biological specimens.

Methods: Participants ages 18+ were recruited from UNC oncology clinics between April 2010 and August 2016.

Spatiotemporal Trends of Birth Defects in North Carolina, 2003-2015.

Birth defects are a leading cause of infant mortality in the United States, but little is known about causes of many types of birth defects. Spatiotemporal disease mapping to identify high-prevalence areas, is a potential strategy to narrow the search for potential environmental and other causes that aggregate over space and time. We described the spatial and temporal trends of the prevalence of birth defects in North Carolina during 2003-2015, using data on live births obtained from the North Carolina Birth Defects Monitoring Program.

Catchment area and cancer population health research through a novel population-based statewide database: a scoping review.

Background: Population-based linked datasets are vital to generate catchment area and population health research. The novel Cancer Information and Population Health Resource (CIPHR) links statewide cancer registry data, public and private insurance claims, and provider- and area-level data, representing more than 80% of North Carolina's large, diverse population of individuals diagnosed with cancer. This scoping review of articles that used CIPHR data characterizes the breadth of research generated and identifies further opportunities for population-based health research.

Cancer information and population health resource: a resource for catchment area data and cancer outcomes research.

Background: The University of North Carolina at Chapel Hill Lineberger Comprehensive Cancer Center has developed a novel data resource, the Cancer Information and Population Health Resource (CIPHR), for conducting catchment area evaluation and cancer population health research that links the North Carolina Central Cancer Registry (NCCCR) to medical and pharmacy claims data from Medicare, Medicaid, and private plans operating within North Carolina. This study's aim was to describe the CIPHR data and provide examples of potential cohorts available in those data.

Methods: We present the underlying populations included in the NCCCR and claims data before linkage and demonstrate estimated sample sizes when these data are linked and commonly used insurance enrollment criteria are applied.

Racial Disparities in Maternal Exposure to Ambient Air Pollution During Pregnancy and Prevalence of Congenital Heart Defects.

Air pollution may be a potential cause of congenital heart defects (CHDs), but racial disparities in this association are unexplored. We conducted a statewide population-based cohort study using North Carolina birth data from 2003-2015 (N=1,225,285) to investigate the relationship between air pollution and CHDs (specifically pulmonary valve atresia/stenosis, Tetralogy of Fallot (TOF), and atrioventricular septal defect (AVSD)). Maternal exposure to particulate matter ≤2.

Appropriateness of Hysterectomy as Treatment for Benign Gynecological Conditions.

To assess the appropriateness of hysterectomies performed at a large tertiary health system using the 1997 RAND appropriateness classification system and an updated algorithm. We abstracted structured and unstructured data from electronic medical records on patient demographics, primary indication(s) for hysterectomy, diagnosis codes associated with the hysterectomy, previous treatments, and laboratory results. Patients aged 18-44 years.

Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer.

Breast cancer includes several subtypes with distinct characteristic biological, pathologic, and clinical features. Elucidating subtype-specific genetic etiology could provide insights into the heterogeneity of breast cancer to facilitate the development of improved prevention and treatment approaches. In this study, we conducted pairwise case-case comparisons among five breast cancer subtypes by applying a case-case genome-wide association study (CC-GWAS) approach to summary statistics data of the Breast Cancer Association Consortium.

Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes.

African-ancestry (AA) participants are underrepresented in genetics research. Here, we conducted a transcriptome-wide association study (TWAS) in AA female participants to identify putative breast cancer susceptibility genes. We built genetic models to predict levels of gene expression, exon junction, and 3' UTR alternative polyadenylation using genomic and transcriptomic data generated in normal breast tissues from 150 AA participants and then used these models to perform association analyses using genomic data from 18,034 cases and 22,104 controls.

Statewide Survey of Primary Care and Subspecialty Providers on Hepatocellular Carcinoma Risk-Stratification and Surveillance Practices.

Background: Hepatocellular carcinoma (HCC) surveillance in patients with cirrhosis is associated with improved survival. Provision of HCC surveillance is low in the US, particularly in primary care settings.

Aims: To evaluate current hepatitis C virus (HCV) and HCC surveillance practices and physician attitudes regarding HCC risk-stratification among primary care and subspecialty providers.

Emotional and functional well-being in long-term breast cancer survivorship.

Purpose: Emotional and functional well-being (EWB and FWB) are important components of mental health and quality of life. This study aims to evaluate long-term EWB and FWB in breast cancer (BC) survivors.

Methods: The Carolina Breast Cancer Study Phase 3 oversampled Black and younger (< 50 years in age) women so that they each represent approximately 50% of the study population and assessed participants' EWB and FWB with the Functional Assessment of Cancer Therapy-Breast (FACT-B) at 5- (baseline), 25-, and 84-months post diagnosis.

A search for factors associated with reduced carbohydrate intake and NTD risk in two population-based studies.

Background: Two population-based case-control studies have reported an increased risk of neural tube defect (NTD)-affected pregnancies among women with low carbohydrate diet in the periconceptional period. Given that only two studies have investigated this association, it is unclear to what degree the findings could be impacted by residual confounding. Here, we further interrogated both studies that observed this association with the objective to identify factors from a much larger number of factors that might explain the association.