keyword
https://read.qxmd.com/read/38536067/targeted-and-shallow-whole-genome-sequencing-identifies-therapeutic-opportunities-in-p53abn-endometrial-cancers
#1
JOURNAL ARTICLE
Amy Jamieson, Juliana Sobral de Barros, Dawn R Cochrane, J Maxwell Douglas, Sameer Shankar, Branden J Lynch, Samuel Leung, Spencer Martin, Janine Senz, Amy Lum, Yvette Drew, C Blake Gilks, David G Huntsman, Jessica N McAlpine
PURPOSE: Shallow whole genome sequencing (sWGS) can detect copy number (CN) aberrations. In high-grade serous ovarian (HGSOC) sWGS identified CN signatures such as homologous recombination deficiency (HRD) to direct therapy. We applied sWGS with targeted sequencing to p53abn endometrial cancers (ECs) to identify additional prognostic stratification and therapeutic opportunities. EXPERIMENTAL DESIGN: sWGS and targeted panel sequencing was performed on formalin-fixed paraffin-embedded p53abn ECs...
March 27, 2024: Clinical Cancer Research
https://read.qxmd.com/read/38531883/polygenic-risk-score-for-ulcerative-colitis-predicts-immune-checkpoint-inhibitor-mediated-colitis
#2
JOURNAL ARTICLE
Pooja Middha, Rohit Thummalapalli, Michael J Betti, Lydia Yao, Zoe Quandt, Karmugi Balaratnam, Cosmin A Bejan, Eduardo Cardenas, Christina J Falcon, David M Faleck, Matthew A Gubens, Scott Huntsman, Douglas B Johnson, Linda Kachuri, Khaleeq Khan, Min Li, Christine M Lovly, Megan H Murray, Devalben Patel, Kristin Werking, Yaomin Xu, Luna Jia Zhan, Justin M Balko, Geoffrey Liu, Melinda C Aldrich, Adam J Schoenfeld, Elad Ziv
Immune checkpoint inhibitor-mediated colitis (IMC) is a common adverse event of treatment with immune checkpoint inhibitors (ICI). We hypothesize that genetic susceptibility to Crohn's disease (CD) and ulcerative colitis (UC) predisposes to IMC. In this study, we first develop a polygenic risk scores for CD (PRSCD ) and UC (PRSUC ) in cancer-free individuals and then test these PRSs on IMC in a cohort of 1316 patients with ICI-treated non-small cell lung cancer and perform a replication in 873 ICI-treated pan-cancer patients...
March 26, 2024: Nature Communications
https://read.qxmd.com/read/38496424/large-scale-genome-wide-association-study-of-398-238-women-unveils-seven-novel-loci-associated-with-high-grade-serous-epithelial-ovarian-cancer-risk
#3
Daniel R Barnes, Jonathan P Tyrer, Joe Dennis, Goska Leslie, Manjeet K Bolla, Michael Lush, Amber M Aeilts, Kristiina Aittomäki, Nadine Andrieu, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, Banu K Arun, Judith Balmaña, Elisa V Bandera, Rosa B Barkardottir, Lieke P V Berger, Amy Berrington de Gonzalez, Pascaline Berthet, Katarzyna Białkowska, Line Bjørge, Amie M Blanco, Marinus J Blok, Kristie A Bobolis, Natalia V Bogdanova, James D Brenton, Henriett Butz, Saundra S Buys, Maria A Caligo, Ian Campbell, Carmen Castillo, Kathleen B M Claes, Sarah V Colonna, Linda S Cook, Mary B Daly, Agnieszka Dansonka-Mieszkowska, Miguel de la Hoya, Anna deFazio, Allison DePersia, Yuan Chun Ding, Susan M Domchek, Thilo Dörk, Zakaria Einbeigi, Christoph Engel, D Gareth Evans, Lenka Foretova, Renée T Fortner, Florentia Fostira, Maria Cristina Foti, Eitan Friedman, Megan N Frone, Patricia A Ganz, Aleksandra Gentry-Maharaj, Gord Glendon, Andrew K Godwin, Anna González-Neira, Mark H Greene, Jacek Gronwald, Aliana Guerrieri-Gonzaga, Ute Hamann, Thomas V O Hansen, Holly R Harris, Jan Hauke, Florian Heitz, Frans B L Hogervorst, Maartje J Hooning, John L Hopper, Chad D Huff, David G Huntsman, Evgeny N Imyanitov, Louise Izatt, Anna Jakubowska, Paul A James, Ramunas Janavicius, Esther M John, Siddhartha Kar, Beth Y Karlan, Catherine J Kennedy, Lambertus A L M Kiemeney, Irene Konstantopoulou, Jolanta Kupryjanczyk, Yael Laitman, Ofer Lavie, Kate Lawrenson, Jenny Lester, Fabienne Lesueur, Carlos Lopez-Pleguezuelos, Phuong L Mai, Siranoush Manoukian, Taymaa May, Iain A McNeish, Usha Menon, Roger L Milne, Francesmary Modugno, Jennifer M Mongiovi, Marco Montagna, Kirsten B Moysich, Susan L Neuhausen, Finn C Nielsen, Catherine Noguès, Edit Oláh, Olufunmilayo I Olopade, Ana Osorio, Laura Papi, Harsh Pathak, Celeste L Pearce, Inge S Pedersen, Ana Peixoto, Tanja Pejovic, Pei-Chen Peng, Beth N Peshkin, Paolo Peterlongo, C Bethan Powell, Darya Prokofyeva, Miquel Angel Pujana, Paolo Radice, Muhammad U Rashid, Gad Rennert, George Richenberg, Dale P Sandler, Naoko Sasamoto, Veronica W Setiawan, Priyanka Sharma, Weiva Sieh, Christian F Singer, Katie Snape, Anna P Sokolenko, Penny Soucy, Melissa C Southey, Dominique Stoppa-Lyonnet, Rebecca Sutphen, Christian Sutter, Manuel R Teixeira, Kathryn L Terry, Liv Cecilie V Thomsen, Marc Tischkowitz, Amanda E Toland, Toon Van Gorp, Ana Vega, Digna R Velez Edwards, Penelope M Webb, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Stacey J Winham, Anna H Wu, Siddhartha Yadav, Yao Yu, Argyrios Ziogas, Andrew Berchuck, Fergus J Couch, Ellen L Goode, Marc T Goodman, Alvaro N Monteiro, Kenneth Offit, Susan J Ramus, Harvey A Risch, Joellen M Schildkraut, Mads Thomassen, Jacques Simard, Douglas F Easton, Michelle R Jones, Georgia Chenevix-Trench, Simon A Gayther, Antonis C Antoniou, Paul D P Pharoah
BACKGROUND: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS). METHODS: We analyzed >22 million variants for 398,238 women. Associations were assessed separately by consortium and meta-analysed...
March 4, 2024: medRxiv
https://read.qxmd.com/read/38480868/proteogenomic-analysis-of-enriched-hgsoc-tumor-epithelium-identifies-prognostic-signatures-and-therapeutic-vulnerabilities
#4
JOURNAL ARTICLE
Nicholas W Bateman, Tamara Abulez, Anthony R Soltis, Andrew McPherson, Seongmin Choi, Dale W Garsed, Ahwan Pandey, Chunqiao Tian, Brian L Hood, Kelly A Conrads, Pang-Ning Teng, Julie Oliver, Glenn Gist, Dave Mitchell, Tracy J Litzi, Christopher M Tarney, Barbara A Crothers, Paulette Mhawech-Fauceglia, Clifton L Dalgard, Matthew D Wilkerson, Mariaelena Pierobon, Emanuel F Petricoin, Chunhua Yan, Daoud Meerzaman, Clara Bodelon, Nicolas Wentzensen, Jerry S H Lee, David G Huntsman, Sohrab Shah, Craig D Shriver, Neil T Phippen, Kathleen M Darcy, David D L Bowtell, Thomas P Conrads, G Larry Maxwell
We performed a deep proteogenomic analysis of bulk tumor and laser microdissection enriched tumor cell populations from high-grade serous ovarian cancer (HGSOC) tissue specimens spanning a broad spectrum of purity. We identified patients with longer progression-free survival had increased immune-related signatures and validated proteins correlating with tumor-infiltrating lymphocytes in 65 tumors from an independent cohort of HGSOC patients, as well as with overall survival in an additional 126 HGSOC patient cohort...
March 13, 2024: NPJ Precision Oncology
https://read.qxmd.com/read/38443389/genome-wide-association-analyses-of-ovarian-cancer-patients-undergoing-primary-debulking-surgery-identify-candidate-genes-for-residual-disease
#5
JOURNAL ARTICLE
Dhanya Ramachandran, Jonathan P Tyrer, Stefan Kommoss, Anna DeFazio, Marjorie J Riggan, Penelope M Webb, Peter A Fasching, Diether Lambrechts, María J García, Cristina Rodríguez-Antona, Marc T Goodman, Francesmary Modugno, Kirsten B Moysich, Beth Y Karlan, Jenny Lester, Susanne K Kjaer, Allan Jensen, Estrid Høgdall, Ellen L Goode, William A Cliby, Amanika Kumar, Chen Wang, Julie M Cunningham, Stacey J Winham, Alvaro N Monteiro, Joellen M Schildkraut, Daniel W Cramer, Kathryn L Terry, Linda Titus, Line Bjorge, Liv Cecilie Vestrheim Thomsen, Tanja Pejovic, Claus K Høgdall, Iain A McNeish, Taymaa May, David G Huntsman, Jacobus Pfisterer, Ulrich Canzler, Tjoung-Won Park-Simon, Willibald Schröder, Antje Belau, Lars Hanker, Philipp Harter, Jalid Sehouli, Rainer Kimmig, Nikolaus de Gregorio, Barbara Schmalfeldt, Klaus Baumann, Felix Hilpert, Alexander Burges, Boris Winterhoff, Peter Schürmann, Lisa-Marie Speith, Peter Hillemanns, Andrew Berchuck, Sharon E Johnatty, Susan J Ramus, Georgia Chenevix-Trench, Paul D P Pharoah, Thilo Dörk, Florian Heitz
Survival from ovarian cancer depends on the resection status after primary surgery. We performed genome-wide association analyses for resection status of 7705 ovarian cancer patients, including 4954 with high-grade serous carcinoma (HGSOC), to identify variants associated with residual disease. The most significant association with resection status was observed for rs72845444, upstream of MGMT, in HGSOC (p = 3.9 × 10-8 ). In gene-based analyses, PPP2R5C was the most strongly associated gene in HGSOC after stage adjustment...
March 5, 2024: NPJ Genomic Medicine
https://read.qxmd.com/read/38418709/risk-factors-and-health-behaviors-associated-with-loneliness-among-cancer-survivors-during-the-covid-19-pandemic
#6
JOURNAL ARTICLE
Elena S Aßmann, Jennifer Ose, Cassandra A Hathaway, Laura B Oswald, Sheetal Hardikar, Caroline Himbert, Vimalkumar Chellam, Tengda Lin, Bailee Daniels, Anne C Kirchhoff, Biljana Gigic, Douglas Grossman, Jonathan Tward, Thomas K Varghese, David Shibata, Jane C Figueiredo, Adetunji T Toriola, Anna Beck, Courtney Scaife, Christopher A Barnes, Cindy Matsen, Debra S Ma, Howard Colman, Jason P Hunt, Kevin B Jones, Catherine J Lee, Mikaela Larson, Tracy Onega, Wallace L Akerley, Christopher I Li, William M Grady, Martin Schneider, Andreas Dinkel, Jessica Y Islam, Brian D Gonzalez, Amy K Otto, Frank J Penedo, Erin M Siegel, Shelley S Tworoger, Cornelia M Ulrich, Anita R Peoples
Loneliness may exacerbate poor health outcomes particularly among cancer survivors during the COVID-19 pandemic. Little is known about the risk factors of loneliness among cancer survivors. We evaluated the risk factors of loneliness in the context of COVID-19 pandemic-related prevention behaviors and lifestyle/psychosocial factors among cancer survivors. Cancer survivors (n = 1471) seen at Huntsman Cancer Institute completed a survey between August-September 2020 evaluating health behaviors, medical care, and psychosocial factors including loneliness during COVID-19 pandemic...
February 28, 2024: Journal of Behavioral Medicine
https://read.qxmd.com/read/38359819/pan-cancer-proteogenomics-characterization-of-tumor-immunity
#7
JOURNAL ARTICLE
Francesca Petralia, Weiping Ma, Tomer M Yaron, Francesca Pia Caruso, Nicole Tignor, Joshua M Wang, Daniel Charytonowicz, Jared L Johnson, Emily M Huntsman, Giacomo B Marino, Anna Calinawan, John Erol Evangelista, Myvizhi Esai Selvan, Shrabanti Chowdhury, Dmitry Rykunov, Azra Krek, Xiaoyu Song, Berk Turhan, Karen E Christianson, David A Lewis, Eden Z Deng, Daniel J B Clarke, Jeffrey R Whiteaker, Jacob J Kennedy, Lei Zhao, Rossana Lazcano Segura, Harsh Batra, Maria Gabriela Raso, Edwin Roger Parra, Rama Soundararajan, Ximing Tang, Yize Li, Xinpei Yi, Shankha Satpathy, Ying Wang, Maciej Wiznerowicz, Tania J González-Robles, Antonio Iavarone, Sara J C Gosline, Boris Reva, Ana I Robles, Alexey I Nesvizhskii, D R Mani, Michael A Gillette, Robert J Klein, Marcin Cieslik, Bing Zhang, Amanda G Paulovich, Robert Sebra, Zeynep H Gümüş, Galen Hostetter, David Fenyö, Gilbert S Omenn, Lewis C Cantley, Avi Ma'ayan, Alexander J Lazar, Michele Ceccarelli, Pei Wang
Despite the successes of immunotherapy in cancer treatment over recent decades, less than <10%-20% cancer cases have demonstrated durable responses from immune checkpoint blockade. To enhance the efficacy of immunotherapies, combination therapies suppressing multiple immune evasion mechanisms are increasingly contemplated. To better understand immune cell surveillance and diverse immune evasion responses in tumor tissues, we comprehensively characterized the immune landscape of more than 1,000 tumors across ten different cancers using CPTAC pan-cancer proteogenomic data...
February 29, 2024: Cell
https://read.qxmd.com/read/38132375/ovarian-cancer-from-precursor-lesion-identification-to-population-based-prevention-programs
#8
REVIEW
Ramlogan Sowamber, Alexandra Lukey, David Huntsman, Gillian Hanley
Epithelial ovarian cancer (EOC) is a heterogeneous group of malignancies, including high-grade serous ovarian cancer (HGSC). HGSC is often diagnosed at advanced stages and is linked to TP53 variants. While BRCA variants elevate risk, most HGSC cases occur in individuals without known genetic variants, necessitating prevention strategies for people without known high-risk genetic variants. Effective prevention programs are also needed due to the lack of traditional screening options. An emerging primary prevention strategy is opportunistic salpingectomy, which involves removing fallopian tubes during another planned pelvic surgery...
November 29, 2023: Current Oncology
https://read.qxmd.com/read/37986741/concurrent-rb1-loss-and-brca-deficiency-predicts-enhanced-immunological-response-and-long-term-survival-in-tubo-ovarian-high-grade-serous-carcinoma
#9
Flurina A M Saner, Kazuaki Takahashi, Timothy Budden, Ahwan Pandey, Dinuka Ariyaratne, Tibor A Zwimpfer, Nicola S Meagher, Sian Fereday, Laura Twomey, Kathleen I Pishas, Therese Hoang, Adelyn Bolithon, Nadia Traficante, Kathryn Alsop, Elizabeth L Christie, Eun-Young Kang, Gregg S Nelson, Prafull Ghatage, Cheng-Han Lee, Marjorie J Riggan, Jennifer Alsop, Matthias W Beckmann, Jessica Boros, Alison H Brand, Angela Brooks-Wilson, Michael E Carney, Penny Coulson, Madeleine Courtney-Brooks, Kara L Cushing-Haugen, Cezary Cybulski, Mona A El-Bahrawy, Esther Elishaev, Ramona Erber, Simon A Gayther, Aleksandra Gentry-Maharaj, C Blake Gilks, Paul R Harnett, Holly R Harris, Arndt Hartmann, Alexander Hein, Joy Hendley, Aocs Group, Brenda Y Hernandez, Anna Jakubowska, Mercedes Jimenez-Linan, Michael E Jones, Scott H Kaufmann, Catherine J Kennedy, Tomasz Kluz, Jennifer M Koziak, Björg Kristjansdottir, Nhu D Le, Marcin Lener, Jenny Lester, Jan Lubiński, Constantina Mateoiu, Sandra Orsulic, Matthias Ruebner, Minouk J Schoemaker, Mitul Shah, Raghwa Sharma, Mark E Sherman, Yurii B Shvetsov, Naveena Singh, T Rinda Soong, Helen Steed, Paniti Sukumvanich, Aline Talhouk, Sarah E Taylor, Robert A Vierkant, Chen Wang, Martin Widschwendter, Lynne R Wilkens, Stacey J Winham, Michael S Anglesio, Andrew Berchuck, James D Brenton, Ian Campbell, Linda S Cook, Jennifer A Doherty, Peter A Fasching, Renée T Fortner, Marc T Goodman, Jacek Gronwald, David G Huntsman, Beth Y Karlan, Linda E Kelemen, Usha Menon, Francesmary Modugno, Paul D P Pharoah, Joellen M Schildkraut, Karin Sundfeldt, Anthony J Swerdlow, Ellen L Goode, Anna DeFazio, Martin Köbel, Susan J Ramus, David D L Bowtell, Dale W Garsed
BACKGROUND: Somatic loss of the tumour suppressor RB1 is a common event in tubo-ovarian high-grade serous carcinoma (HGSC), which frequently co-occurs with alterations in homologous recombination DNA repair genes including BRCA1 and BRCA2 ( BRCA ). We examined whether tumour expression of RB1 was associated with survival across ovarian cancer histotypes (HGSC, endometrioid (ENOC), clear cell (CCOC), mucinous (MOC), low-grade serous carcinoma (LGSC)), and how co-occurrence of germline BRCA pathogenic variants and RB1 loss influences long-term survival in a large series of HGSC...
November 10, 2023: medRxiv
https://read.qxmd.com/read/37944815/opportunistic-salpingectomy-between-2017-and-2020-a-descriptive-analysis
#10
JOURNAL ARTICLE
Paramdeep Kaur, Khaye Rufin, Sarah J Finlayson, David G Huntsman, Janice S Kwon, Jessica N McAlpine, Dianne M Miller, Gillian E Hanley
OBJECTIVE: Opportunistic salpingectomy (OS) is the removal of fallopian tubes during another pelvic surgery for the purpose of ovarian cancer prevention. Herein, we describe the rates of OS at the time of hysterectomy and tubal sterilization between 2017 and 2020. METHODS: This study uses Canadian Institute of Health Information's Discharge Abstract Database and National Ambulatory Care Reporting System for all Canadian provinces and territories except for Quebec between the fiscal years 2017 and 2020...
November 7, 2023: Journal of Obstetrics and Gynaecology Canada: JOGC
https://read.qxmd.com/read/37874327/cell-state-of-origin-impacts-development-of-distinct-endometriosis-related-ovarian-carcinoma-histotypes
#11
JOURNAL ARTICLE
Ian Beddows, Huihui Fan, Karolin Heinze, Benjamin K Johnson, Anna Leonova, Janine Senz, Svetlana Djirackor, Kathleen R Cho, Celeste Leigh Pearce, David G Huntsman, Michael S Anglesio, Hui Shen
Clear cell ovarian carcinoma (CCOC) and endometrioid ovarian carcinoma (ENOC) are ovarian carcinoma histotypes that are both thought to arise from ectopic endometrial (or endometrial-like) cells through an endometriosis intermediate. How the same cell type of origin gives rise to two morphologically and biologically different histotypes has been perplexing, particularly given that recurrent genetic mutations are common to both and present in non-malignant precursors. We used RNA transcription analysis to show that the expression profiles of CCOC and ENOC resemble those of normal endometrium at secretory and proliferative phases of the menstrual cycle, respectively...
October 24, 2023: Cancer Research
https://read.qxmd.com/read/37582358/pan-cancer-analysis-of-post-translational-modifications-reveals-shared-patterns-of-protein-regulation
#12
JOURNAL ARTICLE
Yifat Geffen, Shankara Anand, Yo Akiyama, Tomer M Yaron, Yizhe Song, Jared L Johnson, Akshay Govindan, Özgün Babur, Yize Li, Emily Huntsman, Liang-Bo Wang, Chet Birger, David I Heiman, Qing Zhang, Mendy Miller, Yosef E Maruvka, Nicholas J Haradhvala, Anna Calinawan, Saveliy Belkin, Alexander Kerelsky, Karl R Clauser, Karsten Krug, Shankha Satpathy, Samuel H Payne, D R Mani, Michael A Gillette, Saravana M Dhanasekaran, Mathangi Thiagarajan, Mehdi Mesri, Henry Rodriguez, Ana I Robles, Steven A Carr, Alexander J Lazar, François Aguet, Lewis C Cantley, Li Ding, Gad Getz
Post-translational modifications (PTMs) play key roles in regulating cell signaling and physiology in both normal and cancer cells. Advances in mass spectrometry enable high-throughput, accurate, and sensitive measurement of PTM levels to better understand their role, prevalence, and crosstalk. Here, we analyze the largest collection of proteogenomics data from 1,110 patients with PTM profiles across 11 cancer types (10 from the National Cancer Institute's Clinical Proteomic Tumor Analysis Consortium [CPTAC])...
August 31, 2023: Cell
https://read.qxmd.com/read/37582357/pan-cancer-proteogenomics-connects-oncogenic-drivers-to-functional-states
#13
JOURNAL ARTICLE
Yize Li, Eduard Porta-Pardo, Collin Tokheim, Matthew H Bailey, Tomer M Yaron, Vasileios Stathias, Yifat Geffen, Kathleen J Imbach, Song Cao, Shankara Anand, Yo Akiyama, Wenke Liu, Matthew A Wyczalkowski, Yizhe Song, Erik P Storrs, Michael C Wendl, Wubing Zhang, Mustafa Sibai, Victoria Ruiz-Serra, Wen-Wei Liang, Nadezhda V Terekhanova, Fernanda Martins Rodrigues, Karl R Clauser, David I Heiman, Qing Zhang, Francois Aguet, Anna P Calinawan, Saravana M Dhanasekaran, Chet Birger, Shankha Satpathy, Daniel Cui Zhou, Liang-Bo Wang, Jessika Baral, Jared L Johnson, Emily M Huntsman, Pietro Pugliese, Antonio Colaprico, Antonio Iavarone, Milan G Chheda, Christopher J Ricketts, David Fenyö, Samuel H Payne, Henry Rodriguez, Ana I Robles, Michael A Gillette, Chandan Kumar-Sinha, Alexander J Lazar, Lewis C Cantley, Gad Getz, Li Ding
Cancer driver events refer to key genetic aberrations that drive oncogenesis; however, their exact molecular mechanisms remain insufficiently understood. Here, our multi-omics pan-cancer analysis uncovers insights into the impacts of cancer drivers by identifying their significant cis-effects and distal trans-effects quantified at the RNA, protein, and phosphoprotein levels. Salient observations include the association of point mutations and copy-number alterations with the rewiring of protein interaction networks, and notably, most cancer genes converge toward similar molecular states denoted by sequence-based kinase activity profiles...
August 31, 2023: Cell
https://read.qxmd.com/read/37546399/generalization-optimizing-machine-learning-to-improve-ct-scan-radiomics-and-assess-immune-checkpoint-inhibitors-response-in-non-small-cell-lung-cancer-a-multicenter-cohort-study
#14
JOURNAL ARTICLE
Marion Tonneau, Kim Phan, Venkata S K Manem, Cecile Low-Kam, Francis Dutil, Suzanne Kazandjian, Davy Vanderweyen, Justin Panasci, Julie Malo, François Coulombe, Andréanne Gagné, Arielle Elkrief, Wiam Belkaïd, Lisa Di Jorio, Michele Orain, Nicole Bouchard, Thierry Muanza, Frank J Rybicki, Kam Kafi, David Huntsman, Philippe Joubert, Florent Chandelier, Bertrand Routy
BACKGROUND: Recent developments in artificial intelligence suggest that radiomics may represent a promising non-invasive biomarker to predict response to immune checkpoint inhibitors (ICIs). Nevertheless, validation of radiomics algorithms in independent cohorts remains a challenge due to variations in image acquisition and reconstruction. Using radiomics, we investigated the importance of scan normalization as part of a broader machine learning framework to enable model external generalizability to predict ICI response in non-small cell lung cancer (NSCLC) patients across different centers...
2023: Frontiers in Oncology
https://read.qxmd.com/read/37494476/bi-allelic-dicer1-mutations-in-the-gynecologic-tract-of-mice-drive-lineage-specific-development-of-dicer1-syndrome-associated-cancer
#15
JOURNAL ARTICLE
Yemin Wang, Shary Yuting Chen, Monica Ta, Janine Senz, Lan Valerie Tao, Shelby Thornton, Nirupama Tamvada, Winnie Yang, Yana Moscovitz, Eunice Li, Jingjie Guo, Cindy Shen, J Maxwell Douglas, Amal M El-Naggar, Felix K F Kommoss, T Michael Underhill, Naveena Singh, C Blake Gilks, Gregg B Morin, David G Huntsman
DICER1 is an RNase III enzyme essential for microRNA (miRNA) biogenesis through cleaving pre-miRNA hairpins. Germline loss-of-function DICER1 mutations underlie the development of DICER1 syndrome, a rare genetic disorder that predisposes children to cancer development in organs such as lung, gynecologic tract, kidney, and brain. Unlike classical tumor suppressors, the somatic "second hit" in DICER1 syndrome-associated cancers does not fully inactivate DICER1 but impairs its RNase IIIb activity only, suggesting a noncanonical two-hit hypothesis...
July 26, 2023: Cancer Research
https://read.qxmd.com/read/37490140/research-practice-partnership-supporting-rural-cancer-survivors-in-montana
#16
JOURNAL ARTICLE
Janna R Gordon, Melissa Yack, Kara Kikuchi, Leticia Stevens, Leah Merchant, Courtney Buys, Laura Gottschalk, Melanie Frame, Jessica Mussetter, Stephanie Younkin, Heather Zimmerman, Anne C Kirchhoff, David W Wetter
The objective of this Research-Practice Partnership was to disseminate and implement strategies to assist Community Health Centers in improving the care of rural cancer survivors in Montana. Funded by the National Cancer Institute's Community Outreach and Engagement mechanism, this project utilized the MAP-IT (Mobilize, Assess, Plan, Implement, Track) program planning framework from Healthy People 2020. Partners included Montana's Department of Public Health and Human Services' Cancer Control Program, Montana Primary Care Association, One Health Community Health Center, and Huntsman Cancer Institute at the University of Utah...
July 25, 2023: Cancer Causes & Control: CCC
https://read.qxmd.com/read/37362610/household-hurricane-evacuation-during-a-dual-threat-event-hurricane-laura-and-covid-19
#17
JOURNAL ARTICLE
Alex Greer, David Huntsman, Hao-Che Wu, Haley Murphy, Lauren Clay
This study explores household-level evacuation decision-making in response to Hurricane Laura, in a context where hurricane risk reduction measures contradicted COVID-19 risk reduction measures. Data were collected using a mail-based survey approach from households along the coast of Texas and Louisiana to explore drivers of and barriers to evacuation, including COVID-19 measures such as negative affect, risk perceptions, protective actions, and exposure. Testing for direct and indirect effects among the drivers of and barriers to evacuation, we find that many of our COVID-19 measures did not have a direct effect on evacuation but did have indirect effects through other factors...
June 19, 2023: Transportation Research. Part D, Transport and Environment
https://read.qxmd.com/read/37321155/harmonized-molecular-classification-assessment-of-a-single-test-promise-ngs-tool
#18
JOURNAL ARTICLE
Amy Jamieson, Melissa K McConechy, Amy Lum, Samuel Leung, Emily F Thompson, Janine Senz, Aline Talhouk, David G Huntsman, Ali Bashashati, C Blake Gilks, Jessica N McAlpine
OBJECTIVES: Despite recommendations for integrating molecular classification of endometrial cancers (EC) into pathology reporting and clinical management, uptake is inconsistent. To assign ProMisE subtype, all molecular components must be available (POLE mutation status, mismatch repair (MMR) and p53 immunohistochemistry (IHC)) and often these are assessed at different stages of care and/or at different centres resulting in delays in treatment. We assessed a single-test DNA-based targeted next generation sequencing (NGS) molecular classifier (ProMisE NGS), comparing concordance and prognostic value to the original ProMisE classifier...
June 13, 2023: Gynecologic Oncology
https://read.qxmd.com/read/37292751/genetic-prediction-of-colitis-in-non-small-cell-lung-cancer-patients-on-immune-checkpoint-inhibitor-therapy
#19
Pooja Middha, Rohit Thummalapalli, Michael J Betti, Zoe Quandt, Karmugi Balaratnam, Eduardo Cardenas, Christina J Falcon, David M Faleck, Matthew A Gubens, Scott Huntsman, Linda Kachuri, Khaleeq Khan, Min Li, Christine M Lovly, Megan H Murray, Devalben Patel, Kristin Werking, Luna Jia Zhan, Geoffrey Liu, Melinda C Aldrich, Adam J Schoenfeld, Elad Ziv
Immune checkpoint inhibitors (ICIs) are a remarkable advancement in cancer therapeutics; however, a substantial proportion of patients develop severe immune-related adverse events (irAEs). Understanding and predicting irAEs is the key to advancing precision immuno-oncology. Immune-mediated colitis (IMC) is a significant complication from ICI and can have life-threatening consequences. Genetic susceptibility to Crohn's disease (CD) and ulcerative colitis (UC) may predispose to IMC, but the link is poorly understood...
May 16, 2023: medRxiv
https://read.qxmd.com/read/37266563/comparative-genomic-analysis-of-pancreatic-acinar-cell-carcinoma-pacc-and-pancreatic-ductal-adenocarcinoma-pdac-unveils-new-actionable-genomic-aberrations-in-pacc
#20
JOURNAL ARTICLE
Vaia Florou, Andrew Elliott, Matthew H Bailey, David Stone, Kajsa Affolter, Heloisa P Soares, Chris Nevala-Plagemann, Courtney Scaife, Phillip Walker, W Michael Korn, Emil Lou, Rachna T Shroff, Peter J Hosein, Ignacio Garrido-Laguna
PURPOSE: Pure pancreatic acinar cell carcinomas (PACC) are rare malignancies with no established treatment. PACC demonstrates significant genetic intertumoral heterogeneity with multiple pathways involved, suggesting using targeted cancer therapeutics to treat this disease. We aggregated one of the largest datasets of pure PACC to examine the genomic variability and explore patient-specific therapeutic targets. EXPERIMENTAL DESIGN: PACC specimens (n=51) underwent next-generation sequencing (NGS) of DNA (n=29) or whole exome [n=22]) and RNA (whole transcriptome, n=29) at a commercial laboratory...
June 2, 2023: Clinical Cancer Research
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