Article
Oncology
Jung Hun Oh, Sangkyu Lee, Maria Thor, Barry S. Rosenstein, Allen Tannenbaum, Sarah Kerns, Joseph O. Deasy
Summary: This study used a machine learning-based modeling method to assess the risk of radiation-induced hematuria in prostate cancer patients using genome-wide common single nucleotide polymorphisms (SNPs). The results showed that this method can effectively stratify patients into high and low risk groups and identified key proteins and biological processes associated with the risk of hematuria.
RADIOTHERAPY AND ONCOLOGY
(2023)
Article
Fisheries
Xin He, Fucun Wu, Haigang Qi, Jie Meng, Wei Wang, Mingkun Liu, Li Li, Guofan Zhang
Summary: This study identified 925 single nucleotide polymorphisms (SNPs) and 593 genes associated with shell shape in Crassostrea gigas. Two SNPs were found to be significantly related to shell shape differences in an independent population using SNaPshot for genotyping validation. Ten genes were identified as significantly differentially expressed in extreme shell shape groups using real-time PCR.
Article
Biochemistry & Molecular Biology
Sebastian Morales-Pison, Julio C. Tapia, Sarai Morales-Gonzalez, Edio Maldonado, Monica Acuna, Gloria M. Calaf, Lilian Jara
Summary: This study found that specific germline variants in driver genes MAP3K1, SF3B1, and SMAD4 contribute to the risk of breast cancer in the Chilean population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Microbiology
Xiulin Wan, Guoxia Wang, Wenxuan Gao, Chunling Li, He Yan
Summary: This study identified genomic differences between a multidrug-resistant isolate and a susceptible isolate of Glaesserella parasuis using comparative genome analyses. Although closely related, the isolates showed large-scale genomic rearrangement, with 18% of strain-specific accessory genes in the multidrug-resistant isolate.
VETERINARY MICROBIOLOGY
(2021)
Article
Genetics & Heredity
Shiwei Liu, Adam C. Huckaby, Audrey C. Brown, Christopher C. Moore, Ian Burbulis, Michael J. McConnell, Jennifer L. Guler
Summary: This study presents a single-cell sequencing pipeline for the intracellular parasite Plasmodium falciparum and provides a framework for optimizing single-cell amplification and variant analysis in challenging genomes. The work enables detection of parasite heterogeneity contributing to P. falciparum adaptation.
Article
Biochemistry & Molecular Biology
Gyeonghee Lee, Hye Kyung Jeon, Hae Young Yoo
Summary: Through genome-wide association study analysis, this study identified genetic polymorphisms related to dyslipidemia in Korean populations, revealing sex-related differences in dyslipidemia incidence. Further studies considering environmental variables are needed to elucidate these genetic differences.
LIPIDS IN HEALTH AND DISEASE
(2022)
Article
Medical Laboratory Technology
Yuqi Wang, Ling Li, Ping Li
Summary: The association between gestational diabetes mellitus (GDM) and single nucleotide polymorphisms (SNPs) has been widely studied. SNPs can provide insights into the pathogenesis of GDM, help predict the risk of GDM, and guide the management of GDM patients. This review focuses on recent studies investigating the association between SNPs and GDM, identifying several SNPs that have been associated with GDM. However, further research is needed to explore the role of SNPs in the prediction, diagnosis, treatment, and prognosis of GDM in diverse ethnic populations.
CLINICA CHIMICA ACTA
(2023)
Article
Biotechnology & Applied Microbiology
Yan Jing, Weili Teng, Lijuan Qiu, Hongkun Zheng, Wenbin Li, Yingpeng Han, Xue Zhao
Summary: The study of 185 representative soybean accessions revealed partial resistance related to SSR disease, and potential candidate genes were identified through sequencing and association analysis.
Article
Biochemistry & Molecular Biology
Tingting Hua, Chang Zhang, Yating Fu, Na Qin, Su Liu, Congcong Chen, Linnan Gong, Huimin Ma, Yue Ding, Xiaoxia Wei, Chenying Jin, Chen Jin, Meng Zhu, Erbao Zhang, Juncheng Dai, Hongxia Ma
Summary: N6-methyladenosine (m6A) modification is identified as an important epigenetic mechanism in human cancer development. This study investigates the association between m(6)A-associated single-nucleotide polymorphisms (m(6)A-SNPs) and lung cancer risk. The findings reveal several novel susceptibility loci linked to lung cancer, which may affect cancer development through gene expression and m6A modification levels.
MOLECULAR CARCINOGENESIS
(2023)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Review
Plant Sciences
Zheng Ying, Muhammad Awais, Reshmi Akter, Fengjiao Xu, Sul Baik, Daehyo Jung, Deok Chun Yang, Gi-Young Kwak, Wenying You
Summary: Discriminating plant species, cultivars, and landraces is challenging, but SNP markers have proven to be a reliable tool for differentiating Panax ginseng and similar species. This article provides a cost-effective guide for SNP marker analysis in a traditional laboratory setting.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Cardiac & Cardiovascular Systems
Matthew R. Alexander, Samuel Hank, Bethany L. Dale, Lauren Himmel, Xue Zhong, Charles D. Smart, Daniel J. Fehrenbach, Yuhan Chen, Nitin Prabakaran, Brian Tirado, Megan Centrella, Mingfang Ao, Liping Du, Yu Shyr, Daniel Levy, Meena S. Madhur
Summary: Research suggests that the Trp encoding allele of rs3184504 may be causal for hypertension and renal dysfunction, in part due to the loss of SH2B3-mediated repression of T cell IL-12 signaling leading to enhanced IFNg production.
CIRCULATION RESEARCH
(2022)
Article
Oncology
Xiaoling Lin, Yishuo Wu, Fang Liu, Rong Na, Da Huang, Danfeng Xu, Jian Gong, Yao Zhu, Bo Dai, Dingwei Ye, Hongjie Yu, Haowen Jiang, Zujun Fang, Jie Zheng, Qiang Ding
Summary: This study identified genetic variants in the 8q24.21 region that are associated with the serum level of p2PSA in a large-scale Chinese population. These findings may help improve the performance of p2PSA in predicting prostate cancer by taking inherited variations between individuals into account.
FRONTIERS IN ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Luhan Yang, George Church, Hong-Ye Zhao, Lusheng Huang, Yangbin Gao, Hong-Jiang Wei, Geoffrey Yang
Summary: Germline editing, the process of editing an individual's genome to create heritable changes, has been extensively applied to modify the pig genome, serving as a model system to study methodologies, applications, and challenges of mammalian germline genome editing. The broad implications of animal germline editing and its potential clinical applications are also discussed in this context.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Ireneusz Majsterek, Ewa Kucharska
Summary: Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system with no cure and unclear etiology. This study aimed to identify SNPs associated with an increased risk of developing MS. The findings suggest that the GG AGO1 rs636832 and AA GEMIN4 rs7813 genotypes are associated with an increased risk of MS.
Article
Oncology
Kyoin Koo, Amy L. Pasternak, N. Lynn Henry, Vaibhav Sahai, Daniel L. Hertz
Summary: This study describes the current practice of pretreatment DPYD testing in the United States and identifies factors deterring oncologists from ordering testing. The results show that the clinical adoption of pretreatment DPYD testing is extremely limited in the United States, with low prevalence of DPD deficiency and lack of clinical practice guideline recommendations being the main barriers.
JCO ONCOLOGY PRACTICE
(2022)
Article
Oncology
Ciao-Sin Chen, Ellen M. Lavoie Smith, Kathleen A. Stringer, N. Lynn Henry, Daniel L. Hertz
Summary: This study investigates whether sensory and motor chemotherapy-induced peripheral neuropathy (CIPN) are distinct subtypes with different predictive biomarkers in breast cancer patients receiving paclitaxel. The findings suggest that sensory and motor CIPN co-occur and may not have differentiating metabolic biomarkers. Further research is needed to validate these findings and improve the prediction, prevention, and treatment of CIPN.
BREAST CANCER RESEARCH AND TREATMENT
(2022)
Article
Oncology
Daniel L. Hertz, Julie A. Douglas, Robert M. Miller, Kelley M. Kidwell, Christina L. Gersch, Zeruesenay Desta, Anna Maria Storniolo, Vered Stearns, Todd C. Skaar, Daniel F. Hayes, N. Lynn Henry, James M. Rae
Summary: This study identified candidate genetic variants associated with discontinuation of AI therapy due to AIMSS and successfully replicated associations for candidate variants previously reported to be associated with AIMSS risk. Replication of these associations in independent cohorts is needed before translating them into clinical practice for improving treatment outcomes in HR + breast cancer patients.
SUPPORTIVE CARE IN CANCER
(2022)
Review
Pharmacology & Pharmacy
Keneuoe Cecilia Nthontho, Andrew Khulekani Ndlovu, Kirthana Sharma, Ishmael Kasvosve, Daniel Louis Hertz, Giacomo Maria Paganotti
Summary: Breast cancer is a leading cause of cancer death in low- and middle-income countries, especially among sub-Saharan African women. This review summarizes the impact of genetic variation on treatment outcomes for breast cancer drugs, with a focus on the importance of African genetic diversity.
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2022)
Article
Oncology
Daniel L. L. Hertz
Summary: This article calls for clinicians and clinical guidelines committees in the United States to re-evaluate the clinical utility of pretreatment DPYD testing. There is no direct evidence of efficacy reduction, and the available indirect evidence suggests that DPYD-guided FP dosing is well calibrated and minimizes the risk of reducing treatment efficacy.
JOURNAL OF CLINICAL ONCOLOGY
(2022)
Review
Clinical Neurology
Elisa Mantovani, Florenc Demrozi, Daniel L. Hertz, Cristian Turetta, Omar Ferro, Andreas A. Argyriou, Graziano Pravadelli, Stefano Tamburin
Summary: This study systematically reviewed data on the use of wearables, sensors, and smart devices for detecting and monitoring symptoms of CIPN. The results are promising and provide preliminary evidence for the early detection and monitoring of CIPN. However, there are several issues and knowledge gaps that need to be addressed, and the authors propose a framework for future studies.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
Review
Pharmacology & Pharmacy
Daniel L. Hertz, D. Max Smith, Stuart A. Scott, Jai N. Patel, J. Kevin Hicks
Summary: FP chemotherapy has severe toxicities for patients with DPYD gene variants. DPYD testing is standard in Europe but not recommended in the US. The FDA updated the capecitabine package insert to inform patients about the toxicity risk and test availability, but without specific recommendations for testing or dose adjustment. It is important for the FDA to follow European recommendations and promote DPYD testing and genotype-based dose adjustment.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Pharmacology & Pharmacy
Amy. L. L. Pasternak, Robinson Seda, Joseph Lipa, Rachel. L. L. McDevitt, Oxana. V. V. Crysler, Paul. L. L. Swiecicki, Bryan. J. J. Schneider, Brett Vanderwerff, N. Lynn Henry, John. C. C. Krauss, Vaibhav Sahai, Daniel. L. L. Hertz
Summary: Using existing genetics data obtained in research, suspected carriers of actionable genotypes can be identified for efficient implementation of pharmacogenetics (PGx). In a case study, DPYD testing was conducted prior to fluoropyrimidine chemotherapy, resulting in the prevention of toxic treatment for one confirmed carrier. This strategy provides a feasible approach to expand PGx testing and implementation for maximum clinical benefits.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Editorial Material
Oncology
Sharyn D. Baker, Susan E. Bates, Gabriel A. Brooks, William L. Dahut, Robert B. Diasio, Wafik S. El-Deiry, William E. Evans, William D. Figg, Dan L. Hertz, J. Kevin Hicks, Suneel Kamath, Pashtoon Murtaza Kasi, Todd C. Knepper, Howard L. McLeod, Peter H. O'Donnell, Mary V. Relling, Michelle A. Rudek, Tristan M. Sissung, D. Max Smith, Alex Sparreboom, Sandra M. Swain, Christine M. Walko
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Letter
Oncology
Daniel L. Hertz
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Pharmacology & Pharmacy
Delaney Rutherford, Sarah Medley, Nicholas C. Henderson, Christina L. Gersch, Ted A. Vandenberg, Kathy S. Albain, Shaker R. Dakhil, Nagendra R. Tirumali, Julie R. Gralow, Gabriel N. Hortobagyi, Lajos Pusztai, Rita S. Mehta, Daniel F. Hayes, Kelley M. Kidwell, N. Lynn Henry, William E. Barlow, James M. Rae, Daniel L. Hertz
Summary: This study investigated the relationship between genotype-predicted activity of certain genes and systemic concentrations of anastrozole and fulvestrant in breast cancer patients. The results showed that patients with low CYP3A4 activity had higher anastrozole concentrations, while patients with low CYP2C9 activity had lower anastrozole concentrations and higher fulvestrant concentrations. These findings suggest that genetic variations in these genes may play a role in determining the efficacy and dosage of endocrine therapy.
Article
Pharmacology & Pharmacy
Nathan D. Seligson, Jill M. Kolesar, Benish Alam, Laura Baker, Jatinder K. Lamba, Brooke L. Fridley, Ameen A. Salahudeen, Daniel L. Hertz, J. Kevin Hicks
Summary: Precision medicine has greatly improved the clinical care for cancer patients by developing targeted therapies, identifying inherited cancer predisposition syndromes, and optimizing pharmacotherapy through pharmacogenetics. It is argued that integrating pharmacogenomics into paired germline/somatic genomic testing would be an efficient method for increasing access to pharmacogenomic testing.
Review
Oncology
Daniel L. Hertz, Maryam B. Lustberg, Stephen Sonis
Summary: The causes of variation in toxicity among seemingly similar patients undergoing the same treatment regimen are largely unknown. Although there was hope that a patient's germline genome would predict treatment-related toxicity and personalize treatment, there has been limited success in finding reliable pharmacogenetic predictors and translating them into clinical practice. To address this, an integrated biomarker discovery approach is proposed that considers the cumulative effects of various omic and non-omic factors on a patient's toxicity risk. This approach may overcome the limitations in toxicity biomarker science and advance precision oncology treatment.
SUPPORTIVE CARE IN CANCER
(2023)
Meeting Abstract
Oncology
Meghna S. Trivedi, Joseph M. Unger, Dawn Hershman, Amy K. Darke, Daniel L. Hertz, Thomas H. Brannagan, Stephanie J. Smith, Bryan P. Schneider, William J. Irvin, Amanda R. Hathaway, Amy C. Vander Woude, Vinay K. Gudena, N. Lynn Henry, Michael J. Fisch
Meeting Abstract
Oncology
Meghna S. Trivedi, Joseph M. Unger, Dawn L. Hershman, Amy Darke, Daniel Louis Hertz, Thomas Brannagan, Stephanie Smith, William Johnson Irvin, Amanda Redden Hathaway, Amy C. Vander Woude, Vinay K. Gudena, Norah Lynn Henry, Michael Jordan Fisch
JOURNAL OF CLINICAL ONCOLOGY
(2022)
