Article
Endocrinology & Metabolism
Jia Y. Wan, Deborah L. Goodman, Emileigh L. Willems, Alexis R. Freedland, Trina M. Norden-Krichmar, Stephanie A. Santorico, Karen L. Edwards
Summary: This study identified genetic associations for MetS traits with ethnic-specificity and heterogeneity across populations. Most associations were found outside of candidate linkage regions, illustrating the complex genetic architecture underlying MetS.
DIABETOLOGY & METABOLIC SYNDROME
(2021)
Article
Genetics & Heredity
Laurence J. Howe, Michel G. Nivard, Tim T. Morris, Ailin F. Hansen, Humaira Rasheed, Yoonsu Cho, Geetha Chittoor, Rafael Ahlskog, Penelope A. Lind, Teemu Palviainen, Matthijs D. van der Zee, Rosa Cheesman, Massimo Mangino, Yunzhang Wang, Shuai Li, Lucija Klaric, Scott M. Ratliff, Lawrence F. Bielak, Marianne Nygaard, Alexandros Giannelis, Emily A. Willoughby, Chandra A. Reynolds, Jared V. Balbona, Ole A. Andreassen, Helga Ask, Aris Baras, Christopher R. Bauer, Dorret I. Boomsma, Archie Campbell, Harry Campbell, Zhengming Chen, Paraskevi Christofidou, Elizabeth Corfield, Christina C. Dahm, Deepika R. Dokuru, Luke M. Evans, Eco J. C. de Geus, Sudheer Giddaluru, Scott D. Gordon, K. Paige Harden, W. David Hill, Amanda Hughes, Shona M. Kerr, Yongkang Kim, Hyeokmoon Kweon, Antti Latvala, Deborah A. Lawlor, Liming Li, Kuang Lin, Per Magnus, Patrik K. E. Magnusson, Travis T. Mallard, Pekka Martikainen, Melinda C. Mills, Pal Rasmus Njolstad, John D. Overton, Nancy L. Pedersen, David J. Porteous, Jeffrey Reid, Karri Silventoinen, Melissa C. Southey, Camilla Stoltenberg, Elliot M. Tucker-Drob, Margaret J. Wright, Hyeokmoon Kweon, John K. Hewitt, Matthew C. Keller, Michael C. Stallings, James J. Lee, Kaare Christensen, Sharon L. R. Kardia, Patricia A. Peyser, Jennifer A. Smith, James F. Wilson, John L. Hopper, Sara Hagg, Tim D. Spector, Jean-Baptiste Pingault, Robert Plomin, Alexandra Havdahl, Meike Bartels, Nicholas G. Martin, Sven Oskarsson, Anne E. Justice, Iona Y. Millwood, Kristian Hveem, Oyvind Naess, Cristen J. Willer, Bjorn Olav Asvold, Philipp D. Koellinger, Jaakko Kaprio, Sarah E. Medland, Robin G. Walters, Daniel J. Benjamin, Patrick Turley, David M. Evans, George Davey Smith, Caroline Hayward, Ben Brumpton, Gibran Hemani, Neil M. Davies
Summary: Estimates from genome-wide association studies (GWAS) can be influenced by inherited variation, population stratification, and indirect genetic effects. This study combines data from 178,086 siblings to generate population and within-family GWAS estimates for 25 phenotypes. The within-family estimates are smaller than population estimates for certain phenotypes and show differences in genetic correlations and Mendelian randomization analyses.
Article
Pharmacology & Pharmacy
Sirapapha Sudsumrit, Kamonwan Chamchoy, Duantida Songdej, Poom Adisakwattana, Srivicha Krudsood, Emily. R. R. Adams, Mallika Imwong, Ubolsree Leartsakulpanich, Usa Boonyuen
Summary: In western Thailand, up to 22% of people may be ineligible for radical cure. Routine qualitative tests may be insufficient for G6PD testing, so quantitative tests should be implemented. G6PD genotyping should also be used to confirm G6PD status, especially in female individuals suspected of having G6PD deficiency.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Multidisciplinary Sciences
Meida Wang, Xuewei Cao, Shuanglin Zhang, Qiuying Sha
Summary: There is strong evidence that joint analysis of multiple phenotypes in GWAS can increase the power of detecting genetic variants associated with complex diseases. In this study, a novel method called sCLC is developed for association studies using GWAS summary statistics. The simulation results show that sCLC performs well in controlling Type I error rates and has the highest power in most scenarios. Furthermore, sCLC identifies novel signals that were missed by standard GWAS, providing new insights into the genetic factors of musculoskeletal system and connective tissue phenotypes.
SCIENTIFIC REPORTS
(2023)
Article
Cell Biology
Kai Yuan, Tao Zeng, Luonan Chen
Summary: An enormous challenge in the post-genome era is to annotate and resolve the consequences of genetic variation on diverse phenotypes. The genome-wide association study is a well-known method to identify potential genetic loci for complex traits, but it often overlooks the network-associated phenotypic determinates. This problem motivates the development of network-based quantitative trait loci (nQTL) to capture the global genotype-network-phenotype associations and network traits or network signatures.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Mark J. Margres, Rhett M. Rautsaw, Jason L. Strickland, Andrew J. Mason, Tristan D. Schramer, Erich P. Hofmann, Erin Stiers, Schyler A. Ellsworth, Gunnar S. Nystrom, Michael P. Hogan, Daniel A. Bartlett, Timothy J. Colston, David M. Gilbert, Darin R. Rokyta, Christopher L. Parkinson
Summary: The researchers sequenced the genome of the Tiger Rattlesnake and found that the simple venom phenotype is contributed to by gene loss, chromatin accessibility, and methylation levels. They provided the most complete characterization of the venom gene-regulatory network to date and identified key mechanisms mediating phenotypic variation across a polygenic regulatory network.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Genetics & Heredity
Alison R. Barton, Maxwell A. Sherman, Ronen E. Mukamel, Po-Ru Loh
Summary: This study leveraged haplotype sharing in the UK Biobank to impute exome-wide variants and identified significant associations involving rare protein-altering variants. The research revealed significant associations in multiple genes and proposed allelic series containing multiple "likely-causal" variants.
Article
Biology
Vivek Appadurai, Jonas Bybjerg-Grauholm, Morten Dybdahl Krebs, Anders Rosengren, Alfonso Buil, Andres Ingason, Ole Mors, Anders D. Borglum, David M. Hougaard, Merete Nordentoft, Preben B. Mortensen, Olivier Delaneau, Thomas Werge, Andrew J. Schork
Summary: Using the iPSYCH dataset, we evaluated phasing and imputation performance across multiple methods and data integration protocols, showing varying accuracy based on choice of method and protocol. We found a decrease in imputation accuracy in non-European samples, highlighting challenges in studying complex traits in diverse populations. Optimized data integration strategies enhance accuracy and replicability of complex trait analyses. An analysis of phasing and imputation performances using iPSYCH consortium data provides a useful framework for designing workflows in constructing next-generation biobanks or conducting biobank-scale analyses.
COMMUNICATIONS BIOLOGY
(2023)
Article
Environmental Sciences
Maria Grau-Perez, V. Saroja Voruganti, Poojitha Balakrishnan, Karin Haack, Walter Goessler, Nora Franceschini, Josep Redon, Shelley A. Cole, Ana Navas-Acien, Maria Tellez-Plaza
Summary: This study evaluated genetic determinants of urine cadmium levels in American Indian adults and found that urine cadmium concentrations are heritable and influenced by a genetic locus on chromosome 16, which is explained by genetic variation in the ABCC1 gene. Additional studies with extended sets of genome-wide markers are needed to confirm these findings and to identify additional metabolism and toxicity pathways for cadmium.
ENVIRONMENTAL POLLUTION
(2021)
Article
Agronomy
Junfei Gu
Summary: This review presents a genotype-to-phenotype approach that utilizes quantitative genetics and process-based crop modelling to develop new plant types with high yields. This approach allows for predicting crop phenotypes under different environments based on information gathered from a single environment.
Article
Multidisciplinary Sciences
Veronica J. Vieland, Sang-Cheol Seok
Summary: The study aims to explore the performance of TE-PPLD in the context of small to moderate sample sizes, comparing it with Cox Proportional Hazards analysis. The results will help inform the future application in the DMD study, demonstrating the advantages of TE-PPLD and the original PPLD over regression-based GWAS approaches in this context.
Article
Agriculture, Dairy & Animal Science
Zhujun He, Bo Yang, Xiaoming Liu, R. Paul Ross, Catherine Stanton, Jianxin Zhao, Hao Zhang, Wei Chen
Summary: Genotype analysis identified differences in the ability of Bifidobacterium to utilize 2'FL, showing significant variations in utilization among different species, providing guidance for developing personalized prebiotics.
JOURNAL OF DAIRY SCIENCE
(2021)
Review
Pharmacology & Pharmacy
Trine Frederiksen
Summary: Cytochrome P450 2D6 (CYP2D6) is an important drug-metabolizing enzyme with extensive interindividual variability caused by genetic polymorphism. Predicting CYP2D6 function based on genotype has been challenging due to the complexity and lack of consensus. Standardized translation schemes have been proposed, but they are suboptimal for certain alleles and substrate-specific behavior.
BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Yixin Zhang, James B. Meigs, Ching-Ti Liu, Josee Dupuis, Chloe Sarnowski
Summary: Considering family history may enhance the accuracy and power of CC-GWAS in detecting disease-associated genetic variants. The methods incorporating family history showed higher power than CC-GWAS, especially in older age groups. These methods detected known genetic variants and increased their significance in real data applications, demonstrating the importance of including family history in genetic association studies.
Article
Genetics & Heredity
Nianyi Zhang, Xiaofang Wang, Zengqi Tang, Xiaonan Qiu, Zhixuan Guo, Danqi Huang, Hui Xiong, Qing Guo
Summary: This study found that female TSC patients are more likely to develop renal angiomyolipoma than male patients; missense mutation of TSC1 leads to a higher risk of renal angiomyolipoma, whereas frameshift mutation shows a reduced risk; patients with TSC2 mutations in the transcription activation domain 1 coding genes have an increased risk of renal angiomyolipoma.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
Eun-Young Kang, Ashley Weir, Nicola S. Meagher, Kyo Farrington, Gregg S. Nelson, Prafull Ghatage, Cheng-Han Lee, Marjorie J. Riggan, Adelyn Bolithon, Gordana Popovic, Betty Leung, Katrina Tang, Neil Lambie, Joshua Millstein, Jennifer Alsop, Michael S. Anglesio, Beyhan Ataseven, Ellen Barlow, Matthias W. Beckmann, Jessica Berger, Christiani Bisinotto, Hans Boesmueller, Jessica Boros, Alison H. Brand, Angela Brooks-Wilson, Sara Y. Brucker, Michael E. Carney, Yovanni Casablanca, Alicia Cazorla-Jimenez, Paul A. Cohen, Thomas P. Conrads, Linda S. Cook, Penny Coulson, Madeleine Courtney-Brooks, Daniel W. Cramer, Philip Crowe, Julie M. Cunningham, Cezary Cybulski, Kathleen M. Darcy, Mona A. El-Bahrawy, Esther Elishaev, Ramona Erber, Rhonda Farrell, Sian Fereday, Anna Fischer, Maria J. Garcia, Simon A. Gayther, Aleksandra Gentry-Maharaj, C. Blake Gilks, Marcel Grube, Paul R. Harnett, Shariska Petersen Harrington, Philipp Harter, Arndt Hartmann, Jonathan L. Hecht, Sebastian Heikaus, Alexander Hein, Florian Heitz, Joy Hendley, Brenda Y. Hernandez, Susanna Hernando Polo, Sabine Heublein, Akira Hirasawa, Estrid Hogdall, Claus K. Hogdall, Hugo M. Horlings, David G. Huntsman, Tomasz Huzarski, Andrea Jewell, Mercedes Jimenez-Linan, Michael E. Jones, Scott H. Kaufmann, Catherine J. Kennedy, Dineo Khabele, Felix K. F. Kommoss, Roy F. P. M. Kruitwagen, Diether Lambrechts, Nhu D. Le, Marcin Lener, Jenny Lester, Yee Leung, Anna Linder, Liselore Loverix, Jan Lubinski, Rashna Madan, G. Larry Maxwell, Francesmary Modugno, Susan L. Neuhausen, Alexander Olawaiye, Siel Olbrecht, Sandra Orsulic, Jose Palacios, Celeste Leigh Pearce, Malcolm C. Pike, Carmel M. Quinn, Ganendra Raj Mohan, Cristina Rodriguez-Antona, Matthias Ruebner, Andy Ryan, Stuart G. Salfinger, Naoko Sasamoto, Joellen M. Schildkraut, Minouk J. Schoemaker, Mitul Shah, Raghwa Sharma, Yurii B. Shvetsov, Naveena Singh, Gabe S. Sonke, Linda Steele, Colin J. R. Stewart, Karin Sundfeldt, Anthony J. Swerdlow, Aline Talhouk, Adeline Tan, Sarah E. Taylor, Kathryn L. Terry, Aleksandra Toloczko, Nadia Traficante, Koen K. Van de Vijver, Maaike A. van der Aa, Toon Van Gorp, Els Van Nieuwenhuysen, Lilian Van-Wagensveld, Ignace Vergote, Robert A. Vierkant, Chen Wang, Lynne R. Wilkens, Stacey J. Winham, Anna H. Wu, Javier Benitez, Andrew Berchuck, Francisco J. Candido Dos Reis, Anna DeFazio, Peter A. Fasching, Ellen L. Goode, Marc T. Goodman, Jacek Gronwald, Beth Y. Karlan, Stefan Kommoss, Usha Menon, Hans-Peter Sinn, Annette Staebler, James D. Brenton, David D. Bowtell, Paul D. P. Pharoah, Susan J. Ramus, Martin Kobel
Summary: This study validates that high-level amplification of CCNE1 is associated with shorter survival in tubo-ovarian high-grade serous carcinoma (HGSC), supporting its use as a prognostic biomarker in this disease.
Article
Endocrinology & Metabolism
Karri Silventoinen, Jose Maia, Weilong Li, Reijo Sund, Elvio R. Gouveia, Antonio Antunes, Goncalo Marques, Martine Thomis, Aline Jelenkovic, Jaakko Kaprio, Duarte Freitas
Summary: Through detailed anthropometric measurements, we found high genetic correlations underlying human body morphology, suggesting the presence of sets of genes that widely affect anthropometric traits. Obesity measures were mainly related to the first factor, while height and body diameters were mainly related to the second factor. Understanding these genetic variants can improve our knowledge of the development of obesity and other features of the human physique.
INTERNATIONAL JOURNAL OF OBESITY
(2023)
Article
Cell Biology
Sarah Voisin, Kirsten Seale, Macsue Jacques, Shanie Landen, Nicholas R. Harvey, Larisa M. Haupt, Lyn R. Griffiths, Kevin J. Ashton, Vernon G. Coffey, Jamie-Lee M. Thompson, Thomas M. Doering, Malene E. Lindholm, Colum Walsh, Gareth Davison, Rachelle Irwin, Catherine McBride, Ola Hansson, Olof Asplund, Aino E. Heikkinen, Paivi Piirila, Kirsi H. Pietilainen, Miina Ollikainen, Sara Blocquiaux, Martine Thomis, Coletta K. Dawn, Adam P. Sharples, Nir Eynon
Summary: Exercise training can prevent age-related decline in muscle function by targeting epigenetic aging. A meta-analysis of human skeletal muscle samples revealed that individuals with higher aerobic fitness have younger epigenetic and transcriptomic profiles. Exercise training can shift these profiles towards a younger state, while muscle disuse leads to aging of the transcriptome. This comprehensive analysis provides valuable insights for future studies on optimizing longevity through the combination of therapeutics and exercise regimes.
Article
Oncology
Archita Biswas, Manuela Salvucci, Kate Connor, Heiko Dussmann, Steven Carberry, Michael Fichtner, Ellen King, Brona Murphy, Alice C. O'Farrell, Jane Cryan, Alan Beausang, Josephine Heffernan, Mattia Cremona, Bryan T. Hennessy, James Clerkin, Kieron J. Sweeney, Steve MacNally, Francesca Brett, Philip O'Halloran, Orna Bacon, Simon Furney, Maite Verreault, Emie Quissac, Franck Bielle, Mohammed H. Ahmed, Ahmed Idbaih, Sieger Leenstra, Ioannis Ntafoulis, Federica Fabro, Martine Lamfers, Anna Golebiewska, Frank Hertel, Simone P. Niclou, Romain Tching Chi Yen, Andreas Kremer, Gonca Dilcan, Francesca Lodi, Ingrid Arijs, Diether Lambrechts, Manasa Kalya Purushothama, Alexander Kel, Annette T. Byrne, Jochen H. M. Prehn
Summary: This study investigated molecular differences between long-term survivors (LTS) and short-term survivors (STS) of glioblastoma (GBM). Cilium gene signatures were found to be enriched in LTS tumors, while STS tumors exhibited abnormal protein expression. These findings provide potential biomarkers and therapeutic targets for the management of GBM.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Article
Geriatrics & Gerontology
Julian Alcazar, Carlos Rodriguez-Lopez, Christophe Delecluse, Martine Thomis, Evelien Van Roie
Summary: This study evaluated the longitudinal changes in the torque-velocity relationship and maximum muscle power (P-max) of knee extensor muscles in young, middle-aged, and older adults after a 10-year follow-up. The results showed that P-max decreased with age, with early declines in force and later declines in both force and velocity.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Oncology
Liselore Loverix, Ignace Vergote, Pieter Busschaert, Adriaan Vanderstichele, Tom Venken, Bram Boeckx, Philipp Harter, Hilde Brems, Els Van Nieuwenhuysen, Sandro Pignata, Thais Baert, Antonio Gonzalez-Martin, Sileny Han, Christian Marth, Patrick Neven, Nicoletta Colombo, Patrick Berteloot, Johanna Maeenpaeae, Siel Olbrecht, Tina Laga, Erwin Sablon, Isabelle Ray-Coquard, Eric Pujade-Lauraine, Diether Lambrechts, Toon Van Gorp
Summary: The Leuven HRD test and Myriad HRD test have similar predictive value for PFS and OS in HRD+ patients, and there is a robust correlation between the two tests.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Federica Fabro, Trisha V. Kers, Kate J. Feller, Cecile Beerens, Ioannis Ntafoulis, Ahmed Idbaih, Maite Verreault, Kate Connor, Archita Biswas, Manuela Salvucci, Jochen H. M. Prehn, Annette T. Byrne, Alice C. O'Farrell, Diether Lambrechts, Gonca Dilcan, Francesca Lodi, Ingrid Arijs, Andreas Kremer, Romain Tching Chi Yen, Miao-Ping Chien, Martine L. M. Lamfers, Sieger Leenstra
Summary: Chemotherapy using temozolomide is the standard treatment for glioblastoma, but temozolomide resistance remains a challenge. This study reveals the association between resistance and heterogeneity in glioblastoma, and identifies distinct phenotypic behaviors and gene expressions in response to temozolomide. The adaptability and heterogeneity of glioblastoma cells contribute to their ability to survive and develop resistance mechanisms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Hagai Levi, Shai Carmi, Saharon Rosset, Rinat Yerushalmi, Aviad Zick, Tamar Yablonski-Peretz, Qin Wang, Manjeet K. Bolla, Joe Dennis, Kyriaki Michailidou, Michael Lush, Thomas Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Antonis C. Antoniou, Volker Arndt, Annelie Augustinsson, Paivi Auvinen, Laura Beane Freeman, Matthias Beckmann, Sabine Behrens, Marina Bermisheva, Clara Bodelon, Natalia Bogdanova, Stig E. Bojesen, Hermann Brenner, Helen Byers, Nicola Camp, Jose Castelao, Jenny Chang-Claude, Maria-Dolores Chirlaque, Wendy Chung, Christine Clarke, Margriet J. Collee, Sarah Colonna, Fergus Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary Daly, Peter Devilee, Thilo Dork, Laure Dossus, Diana M. Eccles, A. Heather Eliassen, Mikael Eriksson, Gareth Evans, Peter Fasching, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Jose Angel Garcia-Saenz, Jeanine Genkinger, Graham G. Giles, Mark Goldberg, Pascal Guenel, Per Hall, Ute Hamann, Wei He, Peter Hillemanns, Antoinette Hollestelle, Reiner Hoppe, John Hopper, Simona Jakovchevska, Anna Jakubowska, Helena Jernstrom, Esther John, Nichola Johnson, Michael Jones, Joseph Vijai, Rudolf Kaaks, Elza Khusnutdinova, Cari Kitahara, Stella Koutros, Vessela Kristensen, Allison W. Kurian, James Lacey, Diether Lambrechts, Loic Le Marchand, Flavio Lejbkowicz, Annika Lindblom, Sibylle Loibl, Adriana Lori, Jan Lubinski, Arto Mannermaa, Mehdi Manoochehri, Dimitrios Mavroudis, Usha Menon, AnnaMarie Mulligan, Rachel Murphy, Ines Nevelsteen, William G. Newman, Nadia Obi, Katie O'Brien, Ken Offit, Andrew Olshan, Dijana Plaseska-Karanfilska, Janet Olson, Salvatore Panico, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Brigitte Rack, Paolo Radice, Gad Rennert, Valerie Rhenius, Atocha Romero, Emmanouil Saloustros, Dale Sandler, Marjanka K. Schmidt, Lukas Schwentner, Mitul Shah, Priyanka Sharma, Jacques Simard, Melissa Southey, Jennifer Stone, William J. Tapper, Jack Taylor, Lauren Teras, Amanda E. Toland, Melissa Troester, Therese Truong, Lizet E. van der Kolk, Clarice Weinberg, Camilla Wendt, Xiaohong Rose Yang, Wei Zheng, Argyrios Ziogas, Alison M. Dunning, Paul Pharoah, Douglas F. Easton, Shay Ben-Sachar, Naama Elefant, Ron Shamir, Ran Elkon
Summary: This study examined the performance of European-based breast cancer (BC) polygenic risk score (PRS) models in Ashkenazi Jewish (AJ) women. The results showed that the European-based PRS models can identify AJ women with significantly increased BC risk, offering potential improvement in BC risk assessment for this population.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Ioannis Ntafoulis, Anne Kleijn, Jie Ju, Kevin Jimenez-Cowell, Federica Fabro, Michelle Klein, Romain Tching Chi Yen, Rutger K. Balvers, Yunlei Li, Andrew P. Stubbs, Trisha V. Kers, Johan M. Kros, Sean E. Lawler, Laurens V. Beerepoot, Andreas Kremer, Ahmed Idbaih, Maite Verreault, Annette T. Byrne, Alice C. O'Farrell, Kate Connor, Archita Biswas, Manuela Salvucci, Jochen H. M. Prehn, Diether Lambrechts, Gonca Dilcan, Francesca Lodi, Ingrid Arijs, Martin J. van den Bent, Clemens M. F. Dirven, Sieger Leenstra, Martine L. M. GLIOTRAIN Consortium, Martine L. M. Lamfers
Summary: The study revealed that patient-derived glioma stem-like cells (GSCs) retain gene expressions similar to their corresponding DNA and RNA sequences despite the loss of their natural environment. GSCs were found to predict patient response to treatment more accurately and transcriptome analysis identified potential biomarkers for this response. This study demonstrates that GSCs provide a tool to improve glioblastoma drug development and precision medicine.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
Pooja K. Middha, Xiaoliang Wang, Sabine Behrens, Manjeet K. Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J. Aronson, Paul L. Auer, Annelie Augustinsson, Thais Baert, Laura E. Beane Freeman, Heiko Becher, Matthias W. Beckmann, Javier Benitez, Stig E. Bojesen, Hiltrud Brauch, Hermann Brenner, Angela Brooks-Wilson, Daniele Campa, Federico Canzian, Angel Carracedo, Jose E. Castelao, Stephen J. Chanock, Georgia Chenevix-Trench, Emilie Cordina-Duverger, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Laure Dossus, Pierre-Antoine Dugue, A. Heather Eliassen, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Graham G. Giles, Anna Gonzalez-Neira, Felix Grassmann, Anne Grundy, Pascal Guenel, Christopher A. Haiman, Niclas Hakansson, Per Hall, Ute Hamann, Susan E. Hankinson, Elaine F. Harkness, Bernd Holleczek, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, David J. Hunter, Christian Ingvar, Karolin Isaksson, Helena Jernstroem, Esther M. John, Michael E. Jones, Rudolf Kaaks, Renske Keeman, Cari M. Kitahara, Yon-Dschun Ko, Stella Koutros, Allison W. Kurian, James V. Lacey, Diether Lambrechts, Nicole L. Larson, Susanna Larsson, Loic Le Marchand, Flavio Lejbkowicz, Shuai Li, Martha Linet, Jolanta Lissowska, Maria Elena Martinez, Tabea Maurer, Anna Marie Mulligan, Claire Mulot, Rachel A. Murphy, William G. Newman, Sune F. Nielsen, Borge G. Nordestgaard, Aaron Norman, Katie M. O'Brien, Janet E. Olson, Alpa V. Patel, Ross Prentice, Erika Rees-Punia, Gad Rennert, Valerie Rhenius, Kathryn J. Ruddy, Dale P. Sandler, Christopher G. Scott, Mitul T. Shah, Xiao-Ou Shu, Ann Smeets, Melissa C. Southey, Jennifer Stone, Rulla M. Tamimi, Jack A. Taylor, Lauren R. Teras, Katarzyna Tomczyk, Melissa A. Troester, Therese Truong, Celine M. Vachon, Sophia S. Wang, Clarice R. Weinberg, Hans Wildiers, Walter Willett, Stacey J. Winham, Alicja Wolk, Xiaohong Yang, M. Pilar Zamora, Wei Zheng, Argyrios Ziogas, Alison M. Dunning, Paul D. P. Pharoah, Montserrat Garcia-Closas, Marjanka K. Schmidt, Peter Kraft, Roger L. Milne, Sara Lindstroem, Douglas F. Easton, Jenny Chang-Claude
Summary: A genome-wide study identified two independent SNP-risk factor pairs associated with breast cancer risk and estrogen receptor positive (ER +) breast cancer risk. Overall, gene-environment interactions have a very small contribution to the heritability of breast cancer. At the population level, these interactions do not significantly contribute to risk prediction for breast cancer.
BREAST CANCER RESEARCH
(2023)
Article
Oncology
Szymon Macioszek, Danuta Dudzik, Rafal Bartoszewski, Tomasz Stokowy, Diether Lambrechts, Bram Boeckx, Agnieszka Wozniak, Patrick Schoffski, Michal J. Markuszewski
Summary: In this study, integrative metabolomic and transcriptomic analyses were performed to investigate the impact of imatinib treatment on tumour biochemical processes. The results revealed differential metabolite and gene expression profiles, indicating changes in pruine and pyrinridine metabolism, butanoate metabolism, as well as alanine, aspartate, and glutamate metabolism. These findings provide insights into the mechanisms of imatinib's anti-tumour activity and suggest a potentially novel approach for enhancing its efficacy or re-sensitizing imatinib-resistant tumours.
TRANSLATIONAL ONCOLOGY
(2023)
Article
Medicine, Research & Experimental
Jelle Verhoeven, Kathryn A. Jacobs, Francesca Rizzollo, Francesca Lodi, Yichao Hua, Joanna Pozniak, Adhithya Narayanan Srinivasan, Diede Houbaert, Gautam Shankar, Sanket More, Marco B. Schaaf, Nikolina Dubroja Lakic, Maarten Ganne, Jochen Lamote, Johan Van Weyenbergh, Louis Boon, Oliver Bechter, Francesca Bosisio, Yasuo Uchiyama, Mathieu J. M. Bertrand, Jean Christophe Marine, Diether Lambrechts, Gabriele Bergers, Madhur Agrawal, Patrizia Agostinis
Summary: Autophagy in tumor endothelial cells plays a role in suppressing inflammatory responses and maintaining immunosuppression. The loss of autophagy in TECs enhances antitumor immunity by promoting infiltration and function of T-cells. The presence of an inflammatory TEC phenotype correlates with clinical responses to immunotherapy.
EMBO MOLECULAR MEDICINE
(2023)
Meeting Abstract
Oncology
Manuela Salvucci, Liam Poynter, Reza Mirnezami, Steven Carberry, Robert O'Byrne, James Alexander, Diether Lambrechts, Kirill Veselkov, James M. Kinross, Jochen Prehn
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Multidisciplinary Sciences
Ha-Linh Nguyen, Tatjana Geukens, Marion Maetens, Samuel Aparicio, Ayse Bassez, Ake Borg, Jane Brock, Annegien Broeks, Carlos Caldas, Fatima Cardoso, Maxim De Schepper, Mauro Delorenzi, Caroline A. Drukker, Annuska M. Glas, Andrew R. Green, Edoardo Isnaldi, Jorunn Eyfjoro, Hazem Khout, Stian Knappskog, Savitri Krishnamurthy, Sunil R. Lakhani, Anita Langerod, John W. M. Martens, Amy E. McCart Reed, Leigh Murphy, Stefan Naulaerts, Serena Nik-Zainal, Ines Nevelsteen, Patrick Neven, Martine Piccart, Coralie Poncet, Kevin Punie, Colin Purdie, Emad A. Rakha, Andrea Richardson, Emiel Rutgers, Anne Vincent-Salomon, Peter T. Simpson, Marjanka K. Schmidt, Christos Sotiriou, Paul N. Span, Kiat Tee Benita Tan, Alastair Thompson, Stefania Tommasi, Karen Van Baelen, Marc Van de Vijver, Steven Van Laere, Laura van't Veer, Giuseppe Viale, Alain Viari, Hanne Vos, Anke T. Witteveen, Hans Wildiers, Giuseppe Floris, Abhishek D. Garg, Ann Smeets, Diether Lambrechts, Elia Biganzoli, Francois Richard, Christine Desmedt
Summary: Obesity is associated with an increased risk of developing breast cancer and worse prognosis in breast cancer patients. This study investigates the biological differences in untreated primary breast cancer according to patients' body mass index (BMI). The study finds several genomic alterations that are differentially prevalent in overweight or obese patients compared to lean patients. It also reveals an elevated and unresolved inflammation of the breast cancer tumor microenvironment associated with obesity. The findings suggest that patient adiposity may play a significant role in the heterogeneity of breast cancer and should be considered for tailored treatment.
NATURE COMMUNICATIONS
(2023)
Meeting Abstract
Endocrinology & Metabolism
John D. Robbert, M. Guyot, T. Killian, C. Verslype, D. Lambrechts, G. Bergers
JOURNAL OF NEUROENDOCRINOLOGY
(2023)
