Research Highlights - News Updates
Summaries of research conducted by DCEG investigators.
-
GWAS of Breast Cancer Subtypes Improves Understanding of Genetic Risk
Montserrat Garcia-Closas and colleagues report findings from a new genome-wide association study (GWAS) for breast cancer identifying 32 novel susceptibility loci. Importantly, this study reveals genetic risk for breast cancer subtypes and expands the potential for the development of subtype-specific polygenic risk scores.
-
HPV 35 Infection and Associated Cervical Precancer More Common Among Women of African Ancestry
Maisa Pinheiro, Julia Gage, and Lisa Mirabello in the Clinical Genetics Branch find African American women have more HPV 35 infections and HPV 35-associated cervical precancers than women of other races/ethnicities. Genomic analysis also revealed an association with the HPV 35 A2 sublineage and precancer/cancer in women of African ancestry. The highly-effective HPV vaccine covers seven oncogenic HPV types, but does not currently include HPV 35, therefore results from this study warrant further investigation on whether the addition of HPV 35 could provide better protection against cervical precancer for women in Africa or of African ancestry.
-
HPV Genotype Natural History and Implications for Cervical Cancer Screening
In a study of 11,573 HPV-positive women, Maria Demarco, Ph.D., M.P.H., et al., found HPV type and persistence are the major predictors of progression to cervical precancer. At a minimum, HPV16 is clinically important, and dividing the other HPV types into three risk-groups is worth considering. These findings were published in the journal EClinicalMedicine on April 24, 2020.
-
Applying DCEG Expertise to Study the Global Pandemic
Genomic studies, serology assay valuation, descriptive epidemiology studies, and other activities of DCEG investigators and staff in response to the COVID-19 pandemic.
-
Circulating Progesterone May Increase Breast Cancer Risk
Britton Trabert and collaborators find an association between circulating progesterone and increased breast cancer risk among postmenopausal women.
-
Genome-Wide Association Meta-Analysis Identifies Potential Cutaneous Melanoma Risk Loci
A new study identified 85 genomic loci associated with cutaneous melanoma risk using an integrative approach based on genome-wide association studies and transcriptome association approaches. These findings were published in Nature Genetics on April 27, 2020.
-
Gastrointestinal Cancers Global Burden Expected to Rise
Katherine McGlynn and Christian Abnet in the Metabolic Epidemiology Branch, in collaboration with the International Agency for Research on Cancer, examined the global burden of the five major types of gastrointestinal cancer, which include those of the stomach, liver, esophagus, pancreas, and colorectum.
-
Higher Daily Step Count Linked with Lower All-Cause Mortality
Pedro Saint-Maurice, Ph.D., Charles Matthews, Ph.D., and collaborators find taking more steps daily improves life expectancy.
-
Leveraging Genetics to Study African Ancestry in the Americas
Meredith Yeager, in the Cancer Genomics Research Laboratory, in collaboration with researchers in the Federal University of Minas Gerais, Brazil, conducted a genetic study to determine how different African groups contributed to the genetic structure of Caribbean, as well as, North, Central, and South American populations.
-
NIH study provides genetic insights into osteosarcoma in children
Lisa Mirabello, Ph.D., senior investigator and Sharon Savage, M.D., branch chief, in the Clinical Genetics Branch, conducted a next-generation exome sequencing study of patients with osteosarcoma and found that 28% of patients carried a rare pathogenic or likely pathogenic germline variant in a cancer-susceptibility gene.
-
HLA-DPB1 Variants May Increase Risk of Severe Aplastic Anemia, Study Finds
Genetic variants in HLA-DPB1 are associated with increased risk of severe aplastic anemia and may offer etiologic insights, according to findings in The American Journal of Human Genetics on February 6, 2020.
-
Understanding the Role of Physical Activity, Obesity, and Diet in Cancer: Profile of Tenure-track Investigator Steven Moore
Steven C. Moore, Ph.D., M.P.H., has built a multidisciplinary research program in the Metabolic Epidemiology Branch focused on understanding the contributions of physical activity, obesity, and diet to human cancer and overall health.
-
Progress Assessing Cancer Risk Using Clinical Practice Research Datalink
DCEG scientists use data from the Clinical Practice Research Datalink to investigate risk factors and exposures that may contribute to cancer risk, ranging from medication usage to genetic cancer predisposition.
-
APOBEC3-Induced Mutations in HPV 16 Viral Clearance
Bin Zhu, in the Biostatistics Branch, and Lisa Mirabello, in the Clinical Genetics Branch, conducted the largest HPV 16 whole-genome sequencing study to evaluate the contribution of genetic variation in HPV 16 to infection outcome. They found APOBEC3-induced mutations associated with benign cervical infections.
-
Decline in U.S. Hepatocellular Carcinoma Rates
Overall U.S. hepatocellular carcinoma (HCC) incidence rates plateaued in 2013 and dropped 4% in 2016 according to findings published in Gastroenterology on January 19, 2020.
-
Metformin Use for Type 2 Diabetes May Reduce Cancer Risk in Myotonic Dystrophy Type 1
Type 2 diabetes in patients with myotonic dystrophy type 1 was associated with excess risk of cancer, but metformin treatment may reduce this risk, according to findings in the International Journal of Cancer on November 20, 2019.