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Epidemiology and Genomics Research Program

EGRP Research Highlights

Announcing EGRP's 2025 Research Highlights!

Each year, the Epidemiology and Genomics Research Program (EGRP) Research Highlights showcases a selection of research publications supported by grants in the EGRP grant portfolio. EGRP asked NCI grantees with projects supported by current or recently-closed grants (i.e., grants that ended in 2024 or 2025) administered by EGRP to select and submit a research publication resulting from the grant. Submitted articles had to include an acknowledgement of the grant funding and comply with all NIH data sharing policies.

Below are the final selections for EGRP's 2025 Research Highlights, listed in alphabetical order by first author.

Associations of DNA methylation in breast tumour subtypes with parity and breastfeeding in a cohort of 1459 Black women: implications for public health

Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers

Amuzu S, Xie AX, Bai X, et al. Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers. Nat Genet. 2025;57(11):2655-2660.

Nativity and healthy lifestyle index in a pooled cohort of female breast cancer survivors from northern California

Aoki RL, Alexeeff SE, Caan BJ, et al. Nativity and healthy lifestyle index in a pooled cohort of female breast cancer survivors from northern California. Cancer Epidemiol Biomarkers Prev. 2025;34(7):1188-1198.

Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility

Betti MJ, Jaworski J, Zhao S, et al. Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility. Am J Hum Genet. 2025;112(9):2102-2114.

Stratifying lung adenocarcinoma risk with multi-ancestry polygenic risk scores in East Asian never-smokers

Blechter B, Wang X, Dai J, et al. Stratifying lung adenocarcinoma risk with multi-ancestry polygenic risk scores in East Asian never-smokers. J Natl Cancer Inst. Published online October 1, 2025.

Using gene-environment interactions to explore pathways for colorectal cancer risk

Bouras E, Yu R, Kim AE, et al. Using gene-environment interactions to explore pathways for colorectal cancer risk. EBioMedicine. 2025;121:105964.

Incidence of and risk factors for cutaneous malignant neoplasms after blood or marrow transplant

Broman KK, Meng Q, Holmqvist A, et al. Incidence of and risk factors for cutaneous malignant neoplasms after blood or marrow transplant. JAMA Dermatol. 2025;161(3):265-273.

Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci

Byun J, Han Y, Choi J, et al. Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci. Hum Mol Genet. 2025;34(14):1227-1237.

Unsupervised large language models to identify topics in cancer center patient portal messages

Chang JH, Ashraf-Ganjouei A, Friesner I, et al. Unsupervised large language models to identify topics in cancer center patient portal messages. JCO Clin Cancer Inform. 2025;9:e2500102.

Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level

Chang YH, Bresnahan ST, Taylor Head S, et al. Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level . Br J Cancer. 2025;133(6):874-885.

Risk of aggressive prostate cancer with successive generations in the US among Latino men

Chen F, Paik A, Sheng X, et al. Risk of aggressive prostate cancer with successive generations in the US among Latino men. J Natl Cancer Inst. 2025;117(8):1699-1706.

Lower frequency of PNPLA3 polymorphism in West African populations and divergent associations with hepatocellular carcinoma

Chotiprasidhi P, Nartey YA, Sato-Espinoza K, et al. Lower frequency of PNPLA3 polymorphism in West African populations and divergent associations with hepatocellular carcinoma. Gastro Hep Adv. 2025;4(6):100639.

Retrotransposon methylation profiles and survival in Black women with high-grade serous ovarian carcinoma

Colin-Leitzinger C, Lawson-Michod KA, Johnson CE, et al. Retrotransposon methylation profiles and survival in Black women with high-grade serous ovarian carcinoma. Clin Epigenetics. 2025;17(1):134.

Optimizing participant and community engagement in cancer genomic sequencing research

Crossnohere NL, Schuster ALR, Blair CK, et al. Optimizing participant and community engagement in cancer genomic sequencing research. Genet Med. 2025;27(9):101483.

Associations of early-adulthood adiposity with breast parenchymal tissue complexity within premenopausal women

Das Gupta S, Getz K, Hernandez Lopez J, Bennett DL, Toriola AT, Gastounioti A. Associations of early-adulthood adiposity with breast parenchymal tissue complexity within premenopausal women. Breast Cancer Res. 2025;27(1):188.

Exposure to nitrosatable drugs during pregnancy and childhood cancer: A cohort study in Taiwan

Deng C, Hu YH, Sirirungreung A, et al. Exposure to nitrosatable drugs during pregnancy and childhood cancer: A cohort study in Taiwan. Int J Cancer. Published online November 7, 2025.

Risk biomarkers of chronic GVHD in children aged 10 years or younger and children/adults older than 10 years

Ferreira AC, Dutta D, Rowan CM, et al. Risk biomarkers of chronic GVHD in children aged 10 years or younger and children/adults older than 10 years. Blood Adv. 2026;10(1):168-180. Published online September 18, 2025.

Prescription and self-reported use of endocrine therapy among Black hormone receptor-positive breast cancer survivors in the Detroit Research on Cancer Survivors cohort

The Translational Research Program in Cancer Differences across Populations

Figueiredo JC, Redwood D, Li L, et al. The Translational Research Program in Cancer Differences across Populations. Cancer Epidemiol Biomarkers Prev. 2025;34(9):1472-1482.

Proton versus photon radiotherapy for patients with oropharyngeal cancer in the USA: a multicentre, randomised, open-label, non-inferiority phase 3 trial

Frank SJ, Busse PM, Lee JJ, et al. Proton versus photon radiotherapy for patients with oropharyngeal cancer in the USA: a multicentre, randomised, open-label, non-inferiority phase 3 trial. Lancet. 2026;407(10524):174-184. Published online December 11, 2025.

BRCA1/2 impact on the development of implant-associated lymphoma in women with breast cancer and textured implants

Ghione P, Mandelker D, Arcila M, et al. BRCA1/2 impact on the development of implant-associated lymphoma in women with breast cancer and textured implants. Blood Adv. 2025;9(17):4436-4443.

Genetic and nongenetic risk factors for breast cancer risk estimation

Guo W, Li JL, McClellan J, et al. Genetic and nongenetic risk factors for breast cancer risk estimation. JAMA Netw Open. 2025;8(4):e255804.

AI-informed computational pathology classifier predicts outcomes across treatment modalities in muscle-invasive urothelial carcinoma

Co-occurrence of congenital anomalies and childhood brain tumors in 22 million live births

Hoang TT, Schraw JM, Shumate C, et al. Co-occurrence of congenital anomalies and childhood brain tumors in 22 million live births. Neuro Oncol. 2025;27(7):1910-1922.

Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups

Functional evaluation and clinical classification of BRCA2 variants

Huang H, Hu C, Na J, et al. Functional evaluation and clinical classification of BRCA2 variants. Nature. 2025;638(8050):528-537.

Pre-surgery gut microbial diversity and abundance are associated with post-surgery onset of cachexia in colorectal cancer patients: the ColoCare Study

Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci

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

Automated breast density assessment for full-field digital mammography and digital breast tomosynthesis

Jiang S, Bennett DL, Chen S, Toriola AT, Colditz GA Automated breast density assessment for full-field digital mammography and digital breast tomosynthesis. Cancer Prev Res (Phila). 2025;18(1):23-29.

Physical activity during adolescence and early adulthood and breast cancer risk before age 40 years

Kehm RD, Genkinger JM, Knight JA, et al. Physical activity during adolescence and early adulthood and breast cancer risk before age 40 years. Cancer Epidemiol Biomarkers Prev. 2025;34(1):108-116.

Robust collection and processing for label-free single voxel proteomics

Kitata RB, Velickovic M, Xu Z, et al. Robust collection and processing for label-free single voxel proteomics. Nat Commun. 2025;16(1):547.

Enhancing prediction of cancer therapy-related cardiomyopathy from surveillance echocardiograms: a Children's Oncology Group study

Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention

Li Q, Song Q, Chen Z, et al. Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention. Am J Hum Genet. 2026;113(1):41-56. Published online December 2, 2025.

Recruiting diverse prostate cancer survivors in health outcomes research: lessons learned from survey and biospecimen collection

Li X, Chen Z, Hu B, et al. Recruiting diverse prostate cancer survivors in health outcomes research: lessons learned from survey and biospecimen collection. Cancer Epidemiol Biomarkers Prev. 2025;34(12):2194-2200.

Tracing the evolution of single-cell 3D genomes in Kras-driven cancers

Liu M, Jin S, Agabiti SS, et al. Tracing the evolution of single-cell 3D genomes in Kras-driven cancers. Nat Genet. 2025;57(12):3075-3087.

Integrating multi-omics data to uncover prostate tissue DNA methylation biomarkers and target genes for prostate cancer risk

FLIPI24: A modern prognostic model and clinical trial enrichment tool for newly diagnosed follicular lymphoma

Maurer MJ, Prochazka VK, El-Galaly TC, et al. FLIPI24: A modern prognostic model and clinical trial enrichment tool for newly diagnosed follicular lymphoma. J Clin Oncol. 2026;44(2):117-128. Published online on Dec 2, 2025.

Breast cancer overall survival, annual risks of death, and survival gap apportionment in sub-Saharan Africa (ABC-DO): 7-year follow-up of a prospective cohort study

Quantitative analysis of T cell subsets in a population of Black women with invasive breast cancer

Omilian AR, Mendicino L, George A, et al. Quantitative analysis of T cell subsets in a population of Black women with invasive breast cancer. NPJ Breast Cancer. 2025;11(1):64.

The impact of reproductive factors on breast tumor and normal-adjacent tissue immune profile from menarche to menopause

Steroid hormone metabolites and mammographic breast density in premenopausal women

Pourali G, Matthew KA, Jeon MS, et al. Steroid hormone metabolites and mammographic breast density in premenopausal women. Br J Cancer. 2026;134(2):225-236. Published online November 3, 2025.

Development of a rapid automated point-of-care test for hepatitis C viral RNA on the DASH® Rapid PCR System

Reed JL, Butzler MA, Hawkins CA, et al. Development of a rapid automated point-of-care test for hepatitis C viral RNA on the DASH® Rapid PCR System. J Infect Dis. Published online December 10, 2025.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

Richardson ME, Bishop MFH, Holdren MA, et al. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. Am J Hum Genet. 2025;112(10):2266-2280.

An individualized prediction model for early-stage classic Hodgkin's lymphoma

Rodday AM, Evens AM, Maurer MJ, et al. An individualized prediction model for early-stage classic Hodgkin's lymphoma. NEJM Evid. 2025;4(9):EVIDoa2500115.

Building research infrastructure to advance precision medicine in colorectal cancer

Schmit SL, Loroña NC, Sobieski D, et al. Building research infrastructure to advance precision medicine in colorectal cancer. JNCI Cancer Spectr. 2025;9(3):pkaf027.

Regular use of pharmaceutical opioids and subsequent risk of cancer: a prospective cohort study and Mendelian randomization analysis

Established cancer predisposition genes in single and multiple cancer diagnoses

Shevach JW, Xu J, Snyder N, et al. Established cancer predisposition genes in single and multiple cancer diagnoses. JAMA Oncol. 2025;11(10):1222-1230.

Interactions between genetic and epidemiological factors influencing mammographic density

Suger AH, Chen H, Haas CB, et al. Interactions between genetic and epidemiological factors influencing mammographic density. Am J Epidemiol. Published online March 27, 2025.

Genome-wide association study of urinary cadmium levels in current smokers from the Multiethnic Cohort Study

Sullivan SM, Murphy SE, Stram DO, et al. Genome-wide association study of urinary cadmium levels in current smokers from the Multiethnic Cohort Study. Hum Mol Genet. 2025;34(7):611-616.

T-cell subset features and distributions evolve across the colorectal precancer-cancer spectrum

Takashima Y, Dias Costa A, Akimoto N, et al. T-cell subset features and distributions evolve across the colorectal precancer-cancer spectrum. Cancer Immunol Res. 2026;14(1):46-59. Published online November 12, 2025.

Characterization of additive gene-environment interactions for colorectal cancer risk

Thomas CE, Lin Y, Kim M, et al. Characterization of additive gene-environment interactions for colorectal cancer risk. Epidemiology. 2025;36(1):126-138.

Genomic analysis reveals racial and age-related differences in the somatic landscape of breast cancer and the association with socioeconomic factors

Breast, colorectal, and pancreatic cancer mortality with pathogenic variants in ATM, CHEK2, or PALB2

Veenstra CM, Abrahamse P, Hamilton AS, et al. Breast, colorectal, and pancreatic cancer mortality with pathogenic variants in ATM, CHEK2, or PALB2. J Clin Oncol. 2025;43(13):1587-1596.

Proteomic aging clocks and the risk of mortality among long-term cancer survivors

Wang S, Rao Z, Blaes AH, et al. Proteomic aging clocks and the risk of mortality among long-term cancer survivors. J Natl Cancer Inst. 2026;118(1):102-112. Published online October 1, 2025.

Accounting for endoscopic screening in colorectal cancer risk models

Wei EK, Wu K, Colditz GA, et al. Accounting for endoscopic screening in colorectal cancer risk models. Cancer Epidemiol Biomarkers Prev. 2025;34(11):2049-2057.

Substandard anticancer medications in clinical care settings and private pharmacies in sub-Saharan Africa: a systematic pharmaceutical investigation

Epigenetic age acceleration, telomere length, and neurocognitive function in long-term survivors of childhood cancer

Associations of stem cell markers with lobular involution in benign breast tissue

Yaghjyan L, Tamimi RM, Baker GM, Heng YJ. Associations of stem cell markers with lobular involution in benign breast tissue. Cancer Epidemiol Biomarkers Prev. 2025;34(8):1314-1321.

Plant-based diets and mortality in Black and low-income Americans: findings from a large prospective cohort study

Calibrated dietary patterns and cancer risk in the Women's Health Initiative cohorts

Zhang X, Vasan S, Zheng C, et al. Calibrated dietary patterns and cancer risk in the Women's Health Initiative cohorts. Am J Epidemiol. Published online December 2, 2025.

A prediction model for metachronous colorectal cancer: development and validation

Zhang Y, Karahalios A, Win AK, et al. A prediction model for metachronous colorectal cancer: development and validation. J Natl Cancer Inst. 2025;117(10):2082-2088.

Proteome-wide association study of prostate cancer risk across populations

Zhong H, Zhu J, Liu S, et al. Proteome-wide association study of prostate cancer risk across populations. Nat Commun. Published online December 6, 2025.