Medical Specialties Commons^™

Improved Survival And Decreased Cancer Deaths In Young Adults With Cancer After Passage Of The Affordable Care Act Dependent Coverage Expansion, Michael Roth, Clark R Andersen, Amy Berkman, Stuart Siegel, Branko Cuglievan, J Andrew Livingston, Michelle Hildebrandt, Jaime Estrada, Archie Bleyer

Faculty, Staff and Student Publications

Background: The Patient Protection and Affordable Care Act (ACA) allowed Americans aged 19-25 years to remain on their parents' health insurance plans until age 26 years (the Dependent Care Expansion [DCE]). Have those with cancer diagnoses benefited?

Methods: The ACE DCE 7-year age range of 19-25 years was compared for changes in cancer survival and mortality before and after enactment of the ACA with groups that were younger and older (in 7-year age spans: ages 12-18 and 26-32 years, respectively). Cancer death data for the entire United States were obtained from the Centers for Disease Control and Prevention, and relative …

Pengaruh Durasi Pengobatan Dan Preferensi Pasien Kanker Stadium Akhir Terhadap Layanan Homecare Di Rumah Sakit Medistra Pada Tahun 2021-2023, Peter Brian Sutanto Putra Dr, Erfen Gustiawan Suwangto Dr, Tena Djuartina Dr, Iskandar Rahardjo Budianto Dr, C. Rinaldi A. Lesmana

Jurnal Penyakit Dalam Indonesia

Introduction. Cancer is still an enormous health problem in the world and rank second as the most common cause of mortality. End-stage cancer requires end-of-life or palliative care to improve the patient’s quality of life before death. Homecare services have become an option for providing palliative care to avoid long-term hospital stays. The study aimed to provide an overview of the treatment duration and other factors in end-stage cancer patients regarding the selection of homecare services at Medistra Hospital during the period of 2021-2023.

Methods. This study with a cross-sectional design analyzed medical records of end-stage cancer patients …

Neurofilament Light Chain In Serum Of Cancer Patients With Acute Neurological Complications, Amulya Gottiparthy, Keng Lam, Suprateek Kundu, Zixi Yang, Ivo Tremont-Lukats, Sudhakar Tummala

Faculty, Staff and Student Publications

Aim: Neurofilament light chain (NfL) is a nonspecific sensitive biomarker of axonal damage.

Methods: This case series identified cancer patients with neurological complications who had serum NfL measurements and paired these results to outcomes.

Results: NfL serum levels were available in 15 patients with hematological malignancies or solid tumors. The neurological complications studied were immune effector cell-associated neurotoxicity syndrome, immune checkpoint inhibitor-related encephalopathy, anoxic brain injury, Guillain-Barre syndrome, hemophagocytic lymphohistiocytosis, transverse myelitis, paraneoplastic syndrome, central nervous system demyelinating disorder and chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. All patients but one with serum NfL >900 pg/ml died …

Role Of Nf2 Mutation In The Development Of Eleven Different Cancers, Shervin Hosseingholi Nouri, Vijay Nitturi, Elizabeth Ledbetter, Collin W English, Sean Lau, Tiemo J Klisch, Akash J Patel

Faculty, Staff and Students Publications

Background/Objectives: With the rise in prevalence of diagnostic genetic techniques like RNA sequencing and whole exome sequencing (WES), as well as biological treatment regiments for cancer therapy, several genes have been implicated in carcinogenesis. This review aims to update our understanding of the Neurofibromatosis 2 (NF2) gene and its role in the pathogenesis of various cancers. Methods: A comprehensive search of five online databases yielded 43 studies that highlighted the effect of sporadic NF2 mutations on several cancers, including sporadic meningioma, ependymoma, schwannoma, mesothelioma, breast cancer, hepatocellular carcinoma, prostate cancer, glioblastoma, thyroid cancer, and melanoma. Of note were key biological …

Increasing Awareness Of The Effectiveness Of Occupational Therapy In Cancer Rehabilitation, Aaliyah Parson, Zeida Gutierrez

Fall 2024 OTD Capstone Symposium

Many cancer survivors are faced with functional limitations when engaging in meaningful occupations due to side effects such as anxiety, pain, fatigue, weakness, nausea, etc. from receiving cancer treatments which can impact their quality of life. Occupational therapy has a significant role in supportive care for cancer survivors by providing occupation-based interventions that focus on maximizing function and mitigating functional decline. However, occupational therapy is underutilized in cancer care due to patients' lack of awareness of the role of OT and how it can improve quality of life after receiving cancer treatment. Therefore, this capstone project took place in Tallahassee, …

Protocol For Monitoring Clonal Hematopoiesis In Transgenic Mouse Models Using Multispectral Imaging, Priyanka Khanna, Lauren B Ostermann, Shayaun Khazaei, Ran Zhao, Michael Andreeff, Rasoul Pourebrahim

Faculty, Staff and Student Publications

Clonal hematopoiesis involves the clonal expansion of hematopoietic cells, potentially progressing into hematological malignancies. Here, we present a protocol for the development and characterization of two mouse models designed to simulate clonal hematopoiesis and acute myeloid leukemia. We describe steps for model generation, monitoring clonal expansion, harvesting, fixation, and staining of bone marrow and spleen tissues. We specifically focus on the visualization and analysis of p53 mutant clonal expansions, providing a comprehensive protocol for studying these phenomena in mouse models. For complete details on the use and execution of this protocol, please refer to Pourebrahim et al.

Unraveling The Link Between Language Barriers And Cancer Risk, Eman A. Toraih, Mohammad H. Hussein, Manal S. Malik, Alaa N. Malik, Emad Kandil, Manal S. Fawzy

School of Medicine Faculty Publications

Purpose: Clear patient communication with the physician is an integral aspect of cancer treatment and successful health outcomes. Previous research has shown improved cancer screening in cases of patient navigator assistance to limited English proficient patients, but no research has analyzed the relationship between language isolation and cancer incidence rates in the United States. Methods: Using state-level data from the United States Census Bureau and the National Cancer Institute, we analyzed the correlations between language isolation and age-adjusted incidence rates across 19 different invasive cancers. Results: A complex relationship between language isolation and cancer incidence rates was found. States such …

3d Genome Topology Distinguishes Molecular Subgroups Of Medulloblastoma, John J Y Lee, Michael J Johnston, Hamza Farooq, Huey-Miin Chen, Subhi Talal Younes, Raul Suarez, Melissa Zwaig, Nikoleta Juretic, William A Weiss, Jiannis Ragoussis, Nada Jabado, Michael D Taylor, Marco Gallo

Faculty, Staff and Students Publications

Four main medulloblastoma (MB) molecular subtypes have been identified based on transcriptional, DNA methylation, and genetic profiles. However, it is currently not known whether 3D genome architecture differs between MB subtypes. To address this question, we performed in situ Hi-C to reconstruct the 3D genome architecture of MB subtypes. In total, we generated Hi-C and matching transcriptome data for 28 surgical specimens and Hi-C data for one patient-derived xenograft. The average resolution of the Hi-C maps was 6,833 bp. Using these data, we found that insulation scores of topologically associating domains (TADs) were effective at distinguishing MB molecular subgroups. TAD …

Patient Experiences: A Qualitative Systematic Review Of Chemotherapy Adherence, Amineh Rashidi, Susma Thapa, Wasana Sandamali Kahawaththa Palliya Guruge, Shubhpreet Kaur

Research outputs 2022 to 2026

Adherence to chemotherapy treatment is recognized as a crucial health concern, especially in managing cancer patients. Chemotherapy presents challenges for patients, as it can lead to potential side effects that may adversely affect their mobility and overall function. Patients may sometimes neglect to communicate these side effects to health professionals, which can impact treatment management and leave their unresolved needs unaddressed. However, there is limited understanding of how patients’ experiences contribute to improving adherence to chemotherapy treatment and the provision of appropriate support. Therefore, gaining insights into patients’ experiences is crucial for enhancing the accompaniment and support provided during chemotherapy. …

It’S About Time: Mitigating Cancer-Related Cognitive Impairments Through Findings From Computational Models Of The Wisconsin Card Sorting Task, Darren Haywood, Frank D. Baughman, Evan Dauer, Jennifer Haywood, Susan Rossell, Nicolas H. Hart

Research outputs 2022 to 2026

Background: Many cancer survivors experience cancer-related cognitive impairment (CRCI), often with significant negative consequences across various life domains. Emerging evidence suggests that allowing additional time to process information before acting may be a useful strategy for those with CRCI to mitigate some of its impacts. The Wisconsin Card Sorting Task (WCST), a measure of general cognition, has shown that for some cancer survivors, longer task completion time facilitates similar task performance outcomes to control populations concerning perseveration errors; a key performance metric of the WCST. However, assessing if this strategy may be useful, as well as determining for whom it …

Targeting The Glutamine-Arginine-Proline Metabolism Axis In Cancer, Di Wang, Jiang-Jie Duan, Yu-Feng Guo, Jun-Jie Chen, Tian-Qing Chen, Jun Wang, Shi-Cang Yu

Faculty, Staff and Student Publications

Metabolic abnormalities are an important feature of tumours. The glutamine-arginine-proline axis is an important node of cancer metabolism and plays a major role in amino acid metabolism. This axis also acts as a scaffold for the synthesis of other nonessential amino acids and essential metabolites. In this paper, we briefly review (1) the glutamine addiction exhibited by tumour cells with accelerated glutamine transport and metabolism; (2) the methods regulating extracellular glutamine entry, intracellular glutamine synthesis and the fate of intracellular glutamine; (3) the glutamine, proline and arginine metabolic pathways and their interaction; and (4) the research progress in tumour therapy …

Guidelines On Management Of Hereditary Polyposis Syndromes In Pediatric Patients: Agreement, Disagreement And Where It Matters, Taina Hudson, Claudia Phen, Isabel Rojas, Shlomi Cohen, Warren Hyer, Thomas M. Attard

Manuscripts, Articles, Book Chapters and Other Papers

Hereditary polyposis syndromes are rare but potentially devastating conditions which require multidisciplinary care from an early age. Societal guidelines, which ideally combine expert opinions and medical evidence, serve as the framework for disease diagnosis, surveillance and treatment. However, there is a significant underrepresentation of pediatric gastroenterology input in guideline formulation, and additionally, recommendations can vary significantly between societies, which can have a moderate-to-high clinical impact on patient care. This paper aims to summarize key differences in management based on societal guidelines and identify some of the factors which may contribute to divergence in care in hereditary polyposis syndromes in pediatric …

Personality Feedback With Tailored Self-Care Recommendations Improves Self-Efficacy For Cancer Management: A Randomized Controlled Trial, Laura M. Perry, Brenna Mossman, Sofia F. Garcia, Sheetal M. Kircher, Addison Dunn, Sarah Alonzi, Sanjana Easwar, Michael Hoerger

School of Medicine Faculty Publications

Objective: To test whether a personality feedback intervention improves three domains of cancer self-management: self-awareness, self-efficacy, and positive affect. Methods: From 11/2020-02/2021, 372 adults diagnosed with cancer participated in a randomized controlled trial (RCT) of an intervention that entailed reading a brief personality-related excerpt during an online survey. Eligibility included self-reported age ≥ 18 years, current or past cancer diagnosis, and ability to read English. The survey included a baseline assessment with a personality questionnaire, then randomized participants to one of two groups. The intervention group (n = 184) received a personality feedback report with tailored self-care tips, whereas the …

Tumor-Infiltrating Mast Cells Confer Resistance To Immunotherapy In Pancreatic Cancer, Ying Ma, Xiangqin Zhao, Jingyan Feng, Suimin Qiu, Baoan Ji, Lu Huang, Patrick Hwu, Craig D Logsdon, Huamin Wang

Faculty, Staff and Student Publications

Pancreatic ductal adenocarcinoma (PDAC) exhibits an immunosuppressive tumor microenvironment (TME) contributing to its therapeutic resistance. Following our previous studies, we report that mast cells infiltrating the PDAC TME foster this immunosuppression and desmoplasia. Mast cell infiltration correlated with human PDAC progression, and genetic or pharmacological mast cell depletion reduced tumor growth and desmoplasia while enhancing survival in mouse PDAC models. Mechanistically, mast cell-derived IL-10 promoted PDAC progression. Strikingly, combining an agonistic anti-OX40 immunotherapy with mast cell blockade synergistically elicited durable anti-tumor immunity, marked by increased infiltration of CD8

What Do Cancer Genetic Providers Want Us To Know About Variant Reclassification And Recontact That We Are Not Asking? A Thematic Analysis Of Open-Ended Survey Responses, Kerri Brown, Marisel Ponton, Elenita Davidson, Banu Arun, Robert J Volk, Sanjay Shete, Susan K Peterson, Sukh Makhnoon

Faculty, Staff and Student Publications

BACKGROUND: Accurate variant classification and relaying reclassified results to patients is critical for hereditary cancer care delivery. Over a 5- to 10-year period, 6%-15% of variants undergo reclassification. As the frequency of reclassifications increases, the issue of whether, how, when, and which providers should recontact patients becomes important but remains contentious.

METHODS: The authors used inductive thematic analysis to analyze open-ended comments offered by oncologists and genetic counselors (GCs) from a large national survey.

RESULTS: Of the 634 oncologists and cancer GCs, 126 (20%) offered substantive free-text comments. Four thematic areas emerged: 1) ambiguity over professional responsibility to recontact, 2) …

Identifying Subsets Of Cancer Patients With An Increased Risk Of Developing Cutaneous Melanoma: A Surveillance, Epidemiology, And End Results-Based Analysis, Thomas Z. Rohan, Jenna L. Mandel, Henry Y. Yang, Lauren Banner, Daniel Joffe, Rachel Zachian, Jaanvi Mehta, Safiyyah Bhatti, Tingting Zhan, Neda Nikbakht

SKMC Student Presentations and Publications

Cancer survivors have an increased risk of developing second primary malignancies. We aimed to identify whether certain cancers lead to an increased risk of developing melanoma among cancer survivors. We evaluated the risk of developing cutaneous melanoma after the 20 most common cancers in the United States through the Surveillance, Epidemiology, and End Results database. We identified 9 primary cancers linked to increased risk of developing a subsequent cutaneous melanoma: cutaneous melanoma (standardized incidence ratio [SIR] = 9.65), leukemia (SIR = 1.76), non-Hodgkin lymphoma (SIR = 1.33), thyroid cancer (SIR = 1.32), brain and nervous system cancer (SIR = 1.31), …

Trends In The Use Of Biologic Disease-Modifying Antirheumatic Drugs In Patients With Rheumatoid Arthritis And Recently Diagnosed Colorectal, Lung, Or Prostate Cancer, Maria E Suarez-Almazor, Juan I Ruiz, Xiudong Lei, Chi-Fang Wu, Hui Zhao, Suja S Rajan, Sharon H Giordano

Faculty, Staff and Student Publications

INTRODUCTION: Biologic disease-modifying antirheumatic drugs (bDMARD) are often discontinued when a patient with rheumatoid arthritis (RA) is diagnosed with cancer. Our aim was to determine trends in bDMARD utilization in patients with RA and recently diagnosed cancer.

METHOD: We examined two national claims databases to identify adults with RA and recently diagnosed colorectal, lung, or prostate cancer (Optum's de-identified Clinformatics® Data Mart Database 2008-2022, and Surveillance, Epidemiology, and End Results Program (SEER) Medicare-linked 2008-2017). We determined time trends in bDMARD and tumor necrosis factor inhibitor (TNFi) prescriptions during the first 3 years after cancer with Cochram-Armitage tests and multivariable logistic …

Molecular Profiling Of Braf-V600e-Mutant Metastatic Colorectal Cancer In The Phase 3 Beacon Crc Trial, Scott Kopetz, Danielle A Murphy, Jie Pu, Fortunato Ciardiello, Jayesh Desai, Eric Van Cutsem, Harpreet Singh Wasan, Takayuki Yoshino, Hedieh Saffari, Xiaosong Zhang, Phineas Hamilton, Tao Xie, Rona Yaeger, Josep Tabernero

Faculty, Staff and Student Publications

The BEACON CRC study demonstrated that encorafenib (Enco)+cetuximab (Cetux)±binimetinib (Bini) significantly improved overall survival (OS) versus Cetux + chemotherapy in previously treated patients with BRAF-V600E-mutant mCRC, providing the basis for the approval of the Enco+Cetux regimen in the United States and the European Union. A greater understanding of biomarkers predictive of response to Enco+Cetux±Bini treatment is of clinical relevance. In this prespecified, exploratory biomarker analysis of the BEACON CRC study, we characterize genomic and transcriptomic correlates of clinical outcomes and acquired resistance mechanisms through integrated clinical and molecular analysis, including whole-exome and -transcriptome tissue sequencing and circulating tumor DNA genomic …

Interpreting The Biological Effects Of Protons As A Function Of Physical Quantity: Linear Energy Transfer Or Microdosimetric Lineal Energy Spectrum?, Fada Guan, Lawrence Bronk, Matthew Kerr, Yuting Li, Leslie A Braby, Mary Sobieski, Xiaochun Wang, Xiaodong Zhang, Clifford Stephan, David R Grosshans, Radhe Mohan

Faculty, Staff and Student Publications

The choice of appropriate physical quantities to characterize the biological effects of ionizing radiation has evolved over time coupled with advances in scientific understanding. The basic hypothesis in radiation dosimetry is that the energy deposited by ionizing radiation initiates all the consequences of exposure in a biological sample (e.g., DNA damage, reproductive cell death). Physical quantities defined to characterize energy deposition have included dose, a measure of the mean energy imparted per unit mass of the target, and linear energy transfer (LET), a measure of the mean energy deposition per unit distance that charged particles traverse in a medium. The …

Interpreting The Biological Effects Of Protons As A Function Of Physical Quantity: Linear Energy Transfer Or Microdosimetric Lineal Energy Spectrum?, Fada Guan, Lawrence Bronk, Matthew Kerr, Yuting Li, Leslie A Braby, Mary Sobieski, Xiaochun Wang, Xiaodong Zhang, Clifford Stephan, David R Grosshans, Radhe Mohan

Faculty, Staff and Student Publications

The choice of appropriate physical quantities to characterize the biological effects of ionizing radiation has evolved over time coupled with advances in scientific understanding. The basic hypothesis in radiation dosimetry is that the energy deposited by ionizing radiation initiates all the consequences of exposure in a biological sample (e.g., DNA damage, reproductive cell death). Physical quantities defined to characterize energy deposition have included dose, a measure of the mean energy imparted per unit mass of the target, and linear energy transfer (LET), a measure of the mean energy deposition per unit distance that charged particles traverse in a medium. The …

Interpreting The Biological Effects Of Protons As A Function Of Physical Quantity: Linear Energy Transfer Or Microdosimetric Lineal Energy Spectrum?, Fada Guan, Lawrence Bronk, Matthew Kerr, Yuting Li, Leslie A Braby, Mary Sobieski, Xiaochun Wang, Xiaodong Zhang, Clifford Stephan, David R Grosshans, Radhe Mohan

Faculty, Staff and Student Publications

The choice of appropriate physical quantities to characterize the biological effects of ionizing radiation has evolved over time coupled with advances in scientific understanding. The basic hypothesis in radiation dosimetry is that the energy deposited by ionizing radiation initiates all the consequences of exposure in a biological sample (e.g., DNA damage, reproductive cell death). Physical quantities defined to characterize energy deposition have included dose, a measure of the mean energy imparted per unit mass of the target, and linear energy transfer (LET), a measure of the mean energy deposition per unit distance that charged particles traverse in a medium. The …

Interpreting The Biological Effects Of Protons As A Function Of Physical Quantity: Linear Energy Transfer Or Microdosimetric Lineal Energy Spectrum?, Fada Guan, Lawrence Bronk, Matthew Kerr, Yuting Li, Leslie A Braby, Mary Sobieski, Xiaochun Wang, Xiaodong Zhang, Clifford Stephan, David R Grosshans, Radhe Mohan

Faculty, Staff and Student Publications

The choice of appropriate physical quantities to characterize the biological effects of ionizing radiation has evolved over time coupled with advances in scientific understanding. The basic hypothesis in radiation dosimetry is that the energy deposited by ionizing radiation initiates all the consequences of exposure in a biological sample (e.g., DNA damage, reproductive cell death). Physical quantities defined to characterize energy deposition have included dose, a measure of the mean energy imparted per unit mass of the target, and linear energy transfer (LET), a measure of the mean energy deposition per unit distance that charged particles traverse in a medium. The …

Interpreting The Biological Effects Of Protons As A Function Of Physical Quantity: Linear Energy Transfer Or Microdosimetric Lineal Energy Spectrum?, Fada Guan, Lawrence Bronk, Matthew Kerr, Yuting Li, Leslie A Braby, Mary Sobieski, Xiaochun Wang, Xiaodong Zhang, Clifford Stephan, David R Grosshans, Radhe Mohan

Faculty, Staff and Student Publications

The choice of appropriate physical quantities to characterize the biological effects of ionizing radiation has evolved over time coupled with advances in scientific understanding. The basic hypothesis in radiation dosimetry is that the energy deposited by ionizing radiation initiates all the consequences of exposure in a biological sample (e.g., DNA damage, reproductive cell death). Physical quantities defined to characterize energy deposition have included dose, a measure of the mean energy imparted per unit mass of the target, and linear energy transfer (LET), a measure of the mean energy deposition per unit distance that charged particles traverse in a medium. The …

Micrornas Are Enriched At Covid-19 Genomic Risk Regions, And Their Blood Levels Correlate With The Covid-19 Prognosis Of Cancer Patients Infected By Sars-Cov-2, Simone Anfossi, Faezeh Darbaniyan, Joseph Quinlan, Steliana Calin, Masayoshi Shimizu, Meng Chen, Paola Rausseo, Michael Winters, Elena Bogatenkova, Kim-Anh Do, Ivan Martinez, Ziyi Li, Loredana Antal, Tudor Rares Olariu, Ignacio Wistuba, George A Calin

Faculty, Staff and Student Publications

Background: Cancer patients are more susceptible to an aggressive course of COVID-19. Developing biomarkers identifying cancer patients at high risk of COVID-19-related death could help determine who needs early clinical intervention. The miRNAs hosted in the genomic regions associated with the risk of aggressive COVID-19 could represent potential biomarkers for clinical outcomes.

Patients and methods: Plasma samples were collected at The University of Texas MD Anderson Cancer Center from cancer patients (N = 128) affected by COVID-19. Serum samples were collected from vaccinated healthy individuals (n = 23) at the Municipal Clinical Emergency Teaching Hospital in Timisoara, Romania. An in …

Prazosin As An Adjuvant To Increase Effectiveness Of Duloxetine In A Rat Model Of Oxaliplatin-Induced Peripheral Neuropathy, Monica A. Wagner, Naji Ayyash

Faculty Scholarship

Objectives: Duloxetine, the only American Society of Clinical Oncology (ASCO) treatment recommended for chemotherapy-induced peripheral neuropathy (CIPN) in cancer survivors, is not effective for 40% of survivors. This study examined the ability of a duloxetine-prazosin combination to prevent the development of allodynia and hyperalgesia in a rat model of oxaliplatin-induced peripheral neuropathy (OPIN). Methods: Female (n = 24) and male (n = 41) rats were started on duloxetine (15 mg), prazosin (2 mg), or a duloxetine-prazosin combination one week prior to administration of the chemotherapy drug, oxaliplatin, and continued the duloxetine-prazosin combination for 32 days. Behavioral testing for mechanical allodynia …

Cumulative Radiation Exposure And Lifetime Cancer Risk In Patients With Tetralogy Of Fallot Requiring Early Intervention, Jeannette R Wong-Siegel, Andrew C Glatz, Courtney Mccracken, Choonsik Lee, Cari M Kitahara, Lene H S Veiga, Yun Zhang, Bryan H Goldstein, Christopher J Petit, Athar M Qureshi, George T Nicholson, Mark A Law, Jeffery Meadows, Shabana Shahanavaz, Michael L O'Byrne, Sarosh P Batlivala, Joelle Pettus, Asaad Beshish, Christopher E Mascio, Jennifer C Romano, Kathyrn O Stack, Ivor Asztalos, Tacy E Downing, Jeffrey D Zampi

Faculty, Staff and Students Publications

Background: Neonates with tetralogy of Fallot and symptomatic cyanosis (sTOF) require early intervention, utilizing either a staged repair (SR) or primary repair (PR) approach. They are exposed to several sources of low-dose ionizing radiation, which may contribute to increased cancer risk.

Objectives: The purpose of this study was to compare cumulative radiation exposure and associated lifetime attributable risk (LAR) of cancer between treatment strategies in sTOF.

Methods: Neonates with sTOF who underwent SR or PR from 2012 to 2017 were retrospectively reviewed from the Congenital Cardiac Research Collaborative. Radiation exposure from all radiologic studies prior to 18 months of age …

Detection Of Mosaic And Population-Level Structural Variants With Sniffles2, Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Claudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck

Faculty, Staff and Students Publications

Calling structural variations (SVs) is technically challenging, but using long reads remains the most accurate way to identify complex genomic alterations. Here we present Sniffles2, which improves over current methods by implementing a repeat aware clustering coupled with a fast consensus sequence and coverage-adaptive filtering. Sniffles2 is 11.8 times faster and 29% more accurate than state-of-the-art SV callers across different coverages (5-50×), sequencing technologies (ONT and HiFi) and SV types. Furthermore, Sniffles2 solves the problem of family-level to population-level SV calling to produce fully genotyped VCF files. Across 11 probands, we accurately identified causative SVs around MECP2, including highly complex …

Dna Vaccines Against Gprc5d Synergize With Pd-1 Blockade To Treat Multiple Myeloma, Praveen Neeli, Perry Ayn Mayson A Maza, Dafei Chai, Dan Zhao, Xen Ping Hoi, Keith Syson Chan, Ken H Young, Yong Li

Faculty, Staff and Students Publications

Multiple myeloma (MM), a hematological malignancy of the bone marrow, remains largely incurable. The orphan G protein-coupled receptor, GPRC5D, which is uniquely expressed in plasma cells and highly expressed in MM, is a compelling candidate for immunotherapy. In this study, we investigated the efficacy of a combination of DNA vaccine encoding mouse GPRC5D and PD-1 blockade in preventing and treating MM using the 5TGM1 murine model of MM. The mouse vaccine alone was effective in preventing myeloma growth but required PD-1 antibodies to inhibit established MM tumors. We next evaluated the prophylactic and therapeutic efficacy of a nanoplasmid vector encoding …

Multicohort Epigenome-Wide Association Study Of All-Cause Cardiovascular Disease And Cancer Incidence: A Cardio-Oncology Approach, Arce Domingo-Relloso, Angela L Riffo-Campos, Naisi Zhao, Guillermo Ayala, Karin Haack, Carlos Manterola, Dorothy A Rhoades, Jason G Umans, M Daniele Fallin, Miguel Herreros-Martinez, Marina Pollan, Eric Boerwinkle, Elizabeth A Platz, Miranda R Jones, Jan Bressler, Roby Joehanes, Calen P Ryan, Juan R Gonzalez, Daniel Levy, Daniel W Belsky, Shelley A Cole, Dominique S Michaud, Ana Navas-Acien, Maria Tellez-Plaza

Faculty, Staff and Student Publications

BACKGROUND: Emerging evidence reveals a complex relationship between cardiovascular disease (CVD) and cancer, which share common risk factors and biological pathways.

OBJECTIVES: The aim of this study was to evaluate common epigenetic signatures for CVD and cancer incidence in 3 ethnically diverse cohorts: Native Americans from the SHS (Strong Heart Study), European Americans from the FHS (Framingham Heart Study), and European Americans and African Americans from the ARIC (Atherosclerosis Risk In Communities) study.

METHODS: A 2-stage strategy was used that included first conducting untargeted epigenome-wide association studies for each cohort and then running targeted models in the union set of …

Exploring Racial Disparities In Awareness And Perceptions Of Oncology Clinical Trials: Cross-Sectional Analysis Of Baseline Data From The Mychoice Study, Ariel Hoadley, Linda Fleisher, Cassidy Kenny, Patrick Ja Kelly, Xinrui Ma, Jingwei Wu, Carmen Guerra, Amy E. Leader, Mohammed Alhajji, Paul D'Avanzo, Zoe Landau, Sarah Bauerle Bass

Kimmel Cancer Center Faculty Papers

BACKGROUND: Black/African American adults are underrepresented in oncology clinical trials in the United States, despite efforts at narrowing this disparity.

OBJECTIVE: This study aims to explore differences in how Black/African American oncology patients perceive clinical trials to improve support for the clinical trial participation decision-making process.

METHODS: As part of a larger randomized controlled trial, a total of 244 adult oncology patients receiving active treatment or follow-up care completed a cross-sectional baseline survey on sociodemographic characteristics, clinical trial knowledge, health literacy, perceptions of cancer clinical trials, patient activation, patient advocacy, health care self-efficacy, decisional conflict, and clinical trial intentions. Self-reported …