Article
Pharmacology & Pharmacy
Yunhe Yu, Wenfang Zheng, Changle Ji, Xuehui Wang, Mingkuan Chen, Kaiyao Hua, Xiaochong Deng, Lin Fang
Summary: Early diagnosis is crucial for improving the prognosis of breast cancer patients. This study identified three potential circulating biomarkers for breast cancer diagnosis using circRNA microarray analysis. One of these biomarkers, hsa_circ_0000091, was found to be associated with prognosis and axillary lymph node metastasis in breast cancer patients.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Chemistry, Analytical
Komila Rasuleva, Keerthi Priya Jangili, Alfred Akinlalu, Ang Guo, Pawel Borowicz, Chen-zhong Li, Dali Sun
Summary: Pancreatic cancer patients often have advanced disease at diagnosis, leading to high mortality rates. Currently, there is a lack of noninvasive and fast screening methods to detect this disease. Tumor-derived extracellular vesicles (tdEVs) carrying information from parent cells have emerged as a promising cancer diagnostic biomarker. However, most tdEV-based assays have practical limitations. To overcome these challenges, a novel diagnostic method called EvIPqPCR was developed, which combines immunoprecipitation (IP) and qPCR quantification to directly detect tumor-derived EVs from serum. This technique has the potential to be a translational assay for cancer screening with weak correlation to prognosis biomarkers and sufficient discriminatory power among different groups.
ANALYTICAL CHEMISTRY
(2023)
Review
Oncology
Barbara Cardinali, Roberta Tasso, Patrizia Piccioli, Maria Chiara Ciferri, Rodolfo Quarto, Lucia Del Mastro
Summary: This review discusses the potential application of circulating microRNAs (miRNAs) as diagnostic and monitoring biomarkers in breast cancer. It highlights the advantages and challenges that need to be addressed. Although further studies are needed to support their clinical utility, miRNAs could represent novel tools for breast cancer management.
Article
Multidisciplinary Sciences
Benedetta Bendinelli, Alessia Vignoli, Domenico Palli, Melania Assedi, Daniela Ambrogetti, Claudio Luchinat, Saverio Caini, Calogero Saieva, Paola Turano, Giovanna Masala
Summary: This study explored the possible associations between mammographic breast density (MBD) and breast cancer (BC) risk through a case-case design, finding that pre-diagnostic levels of tyrosine may play a role in modulating the risk of BC in high- versus low-MBD women. Other metabolites also showed differences between the two groups of patients.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Ruiyang Zou, Sau Yeen Loke, Yew Chung Tang, Heng-Phon Too, Lihan Zhou, Ann S. G. Lee, Mikael Hartman
Summary: This study conducted the largest comprehensive multi-center research to date and identified 30 dysregulated miRNAs associated with breast cancer. An optimized eight-miRNA panel was successfully validated in diverse ethnic groups and showed consistent performance. The panel has the potential to be used for breast cancer screening in conjunction with mammography.
BRITISH JOURNAL OF CANCER
(2022)
Article
Medicine, General & Internal
Manon Cairat, Sabina Rinaldi, Anne-Sophie Navionis, Isabelle Romieu, Carine Biessy, Vivian Viallon, Anja Olsen, Anne Tjonneland, Agnes Fournier, Gianluca Severi, Marina Kvaskoff, Renee T. Fortner, Rudolf Kaaks, Krasimira Aleksandrova, Matthias B. Schulze, Giovanna Masala, Rosario Tumino, Sabina Sieri, Chiara Grasso, Amalia Mattiello, Inger T. Gram, Karina Standahl Olsen, Antonio Agudo, Pilar Amiano Etxezarreta, Maria-Jose Sanchez, Carmen Santiuste, Aurelio Barricarte, Evelyn Monninkhof, Anouk E. Hiensch, David Muller, Melissa A. Merritt, Ruth C. Travis, Elisabete Weiderpass, Marc J. Gunter, Laure Dossus
Summary: This study investigated the association between inflammatory markers and breast cancer risk. The findings suggest a potential dual effect of obesity on breast cancer risk among premenopausal and postmenopausal women, with leptin, leptin-to-adiponectin ratio, and CRP showing different associations in each group. Further research is warranted to better understand these relationships.
Article
Oncology
Jody Vykoukal, Johannes F. Fahrmann, Nikul Patel, Masayoshi Shimizu, Edwin J. Ostrin, Jennifer B. Dennison, Cristina Ivan, Gary E. Goodman, Mark D. Thornquist, Matt J. Barnett, Ziding Feng, George A. Calin, Samir M. Hanash
Summary: Blood-based cancer biomarkers, including miRNA and four protein marker panel, have shown utility in improving the assessment and early detection of lung cancer.
Review
Biochemistry & Molecular Biology
Wojciech Jelski, Barbara Mroczko
Summary: Gastric cancer is a highly malignant tumor with poor prognosis, and early diagnosis and effective monitoring are crucial for reducing disease burden and mortality. Blood-based biomarker assays have the potential for early-stage detection of gastric cancer. However, the currently used tumor marker assays have limitations in sensitivity and specificity. In recent years, multiple markers have been identified and tested for their clinical relevance in gastric cancer management. This review summarizes the available literature on various blood-based biomarkers and discusses their potential for early diagnosis and accurate prediction of therapeutic approaches.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cardiac & Cardiovascular Systems
Kathryn A. McGurk, Bernard D. Keavney, Anna Nicolaou
Summary: There is a need for new biomarkers of atherosclerotic cardiovascular disease, with recent studies highlighting circulating ceramides as potential indicators of coronary artery disease, type-2 diabetes and insulin resistance. Ceramides are highly regulated by enzymatic reactions throughout the body in terms of their activity and metabolism, including production, degradation and transport. Genetic studies have shown that DNA variants in genes involved in ceramide biosynthesis play a key role in influencing heritable, circulating ceramide levels.
Article
Oncology
Merce Juliachs, Mireia Pujals, Chiara Bellio, Nathalie Meo-Evoli, Juan M. Duran, Esther Zamora, Mireia Pares, Anna Sunol, Olga Mendez, Alex Sanchez-Pla, Francesc Canals, Cristina Saura, Josep Villanueva
Summary: This study aims to find circulating biomarkers for monitoring the response to cancer therapy. The research found that the release of SOD2 protein during chemotherapy treatment is associated with tumor cell death, and the increase in its circulating levels correlates with treatment response, which can be used for non-invasive monitoring of breast cancer patients.
Article
Biochemistry & Molecular Biology
Maha M. Itani, Farah J. Nassar, Arafat H. Tfayli, Rabih S. Talhouk, Ghada K. Chamandi, Abdul Rahman S. Itani, Joelle Makoukji, Rose-Mary N. Boustany, Lifang Hou, Nathalie K. Zgheib, Rihab R. Nasr
Summary: The combination of miR-145/miR-425-5p/miR-139-5p/miR-130a as a panel of microRNAs shows the highest diagnostic accuracy for early-stage breast cancer detection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Shuang Wang, Lijuan Li, Mengmeng Yang, Xiaoyan Wang, Huan Zhang, Nan Wu, Kaichao Jia, Junchao Wang, Menghui Li, Lijuan Wei, Juntian Liu
Summary: This study identified three circulating miRNAs (hsa-miR-100-5p, hsa-miR-191-5p, and hsa-miR-342-3p) that were upregulated in breast cancer and showed high diagnostic efficacy for breast cancer and early-stage breast cancer. These miRNAs were found to be involved in the calcium signaling pathway, MAPK signaling pathway, and microRNAs in cancer. The findings highlight the positive impact of these miRNAs in breast cancer detection and research.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Emanuela Fina, Loredana Cleris, Matteo Dugo, Mara Lecchi, Chiara Maura Ciniselli, Daniele Lecis, Giulia Valeria Bianchi, Paolo Verderio, Maria Grazia Daidone, Vera Cappelletti
Summary: The study highlights the importance of understanding the hematogenous phase of breast cancer metastasis and identifies genes associated with metastasis through transcriptome analysis of circulating tumor cells. These findings provide valuable information on disease progression and potential therapeutic targets.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2022)
Review
Genetics & Heredity
Lyvia Neves Rebello Alves, Debora Dummer Meira, Luiza Poppe Merigueti, Matheus Correia Casotti, Diego do Prado Ventorim, Jucimara Ferreira Figueiredo Almeida, Valdemir Pereira de Sousa, Marllon Cindra Sant'Ana, Rahna Goncalves Coutinho da Cruz, Luana Santos Louro, Gabriel Mendonca Santana, Thomas Erik Santos Louro, Rhana Evangelista Salazar, Danielle Ribeiro Campos da Silva, Alexia Stefani Siqueira Zetum, Raquel Silva dos Reis Trabach, Flavia Imbroisi Valle Errera, Flavia de Paula, Eldamaria de Vargas Wolfgramm dos Santos, Elizeu Fagunde de Carvalho, Iuri Drumond Louro
Summary: Breast cancer is a heterogeneous disease and the second leading cause of cancer mortality in women worldwide. Advances in molecular technologies have allowed for the identification of new and more specific biomarkers, enabling personalized treatments and improving therapy outcomes. Traditional and novel biomarkers, along with gene expression profiles and single-cell analysis, support decision-making in patient-personalized clinical management.
Article
Oncology
Maria del Pilar Chantada-Vazquez, Mercedes Conde-Amboage, Lucia Grana-Lopez, Sergio Vazquez-Estevez, Susana B. Bravo, Cristina Nunez
Summary: The goal of this study was to identify circulating proteins as biomarkers for predicting response to neoadjuvant chemotherapy in HER2-positive breast cancer patients. Proteomics techniques were used to analyze serum samples and identify potential biomarkers. The study found that serum biomarker profiles can be used to predict treatment response and outcome.
Article
Environmental Sciences
Ashley M. Geczik, Roni T. Falk, Xia Xu, Beatrice Wiafe-Addai, Joel Yarney, Baffour Awuah, Richard Biritwum, Verna Vanderpuye, Florence Dedey, Ernest Adjei, Francis Aitpillah, Ernest Osei-Bonsu, Joseph Oppong, Nicholas Titiloye, Lawrence Edusei, Kofi Nyarko, Joe-Nat Clegg-Lamptey, Seth Wiafe, Daniel Ansong, Thomas U. Ahearn, Jonine Figueroa, Montserrat Garcia-Closas, Louise A. Brinton, Britton Trabert
Summary: This study provides evidence that the use of lye-based hair relaxer products may increase circulating levels of 16-pathway estrogens, particularly estriol and 16-epiestriol. Additionally, scalp burns among hair relaxer users were associated with elevated levels of unconjugated estrogens. However, no association was found between the use of skin lighteners and estrogen metabolism.
JOURNAL OF EXPOSURE SCIENCE AND ENVIRONMENTAL EPIDEMIOLOGY
(2023)
Correction
Environmental Sciences
Ashley M. Geczik, Roni T. Falk, Xia Xu, Beatrice Wiafe-Addai, Joel Yarney, Baffour Awuah, Richard Biritwum, Verna Vanderpuye, Florence Dedey, Ernest Adjei, Francis Aitpillah, Ernest Osei-Bonsu, Joseph Oppong, Nicholas Titiloye, Lawrence Edusei, Kofi Nyarko, Joe-Nat Clegg-Lamptey, Seth Wiafe, Daniel Ansong, Thomas U. Ahearn, Jonine Figueroa, Montserrat Garcia-Closas, Louise A. Brinton, Britton Trabert
JOURNAL OF EXPOSURE SCIENCE AND ENVIRONMENTAL EPIDEMIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Yunping Wang, Shichen Xu, Xian Cheng, Jing Wu, Huixin Yu, Jiandong Bao, Li Zhang, Rongrong Lu
Summary: This study found that DATS could inhibit the migration and invasion of anaplastic thyroid carcinoma (ATC) cells, reverse the process of epithelial-mesenchymal transition (EMT), and downregulate the expression and membrane localization of integrin alpha 2 beta 1. These findings demonstrate the inhibitory effect of DATS on ATC cell metastasis and suggest that DATS may serve as a plant intervention ingredient with bioactivity.
PROCESS BIOCHEMISTRY
(2023)
Article
Genetics & Heredity
Stefanie H. Mueller, Alvina G. Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Annelie Augustinsson, Thais Baert, Laura E. Beane Freeman, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Hermann Brenner, Sara Y. Brucker, Saundra S. Buys, Jose E. Castelao, Tsun L. Chan, Jenny Chang-Claude, Stephen J. Chanock, Ji-Yeob Choi, Wendy K. Chung, Sarah Colonna, Sten Cornelissen, Fergus J. Couch, Kamila Czene, Mary B. Daly, Peter Devilee, Thilo Dork, Laure Dossus, Miriam Dwek, Diana M. Eccles, Arif B. Ekici, A. Heather Eliassen, Christoph Engel, D. Gareth Evans, Peter A. Fasching, Olivia Fletcher, Henrik Flyger, Manuela Gago-Dominguez, Yu-Tang Gao, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Jeanine Genkinger, Aleksandra Gentry-Maharaj, Felix Grassmann, Pascal Guenel, Melanie Gundert, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Hakansson, Per Hall, Elaine F. Harkness, Patricia A. Harrington, Jaana M. Hartikainen, Mikael Hartman, Alexander Hein, Weang-Kee Ho, Maartje J. Hooning, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, David J. Hunter, Dezheng Huo, Abctb Investigators, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M. John, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Daehee Kang, Elza K. Khusnutdinova, Sung-Won Kim, Cari M. Kitahara, Stella Koutros, Peter Kraft, Vessela N. Kristensen, Katerina Kubelka-Sabit, Allison W. Kurian, Ava Kwong, James Lacey, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Usha Menon, Kenneth Muir, Rachel A. Murphy, Heli Nevanlinna, William G. Newman, Dieter Niederacher, Katie M. O'Brien, Nadia Obi, Kenneth Offit, Olufunmilayo Olopade, Andrew F. Olshan, Hakan Olsson, Sue K. Park, Alpa Patel, Achal Patel, Charles M. Perou, Julian Peto, Paul D. P. Pharoah, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Muhammad U. Rashid, Gad Rennert, Atocha Romero, Kathryn J. Ruddy, Matthias Ruebner, Emmanouil Saloustros, Dale P. Sandler, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Michael O. Schneider, Christopher Scott, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Harald Surowy, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Soo Hwang Teo, Lauren R. Teras, Amanda E. Toland, Rob A. E. M. Tollenaar, Diana Torres, Gabriela Torres-Mejia, Melissa A. Troester, Therese Truong, Celine M. Vachon, Joseph Vijai, Clarice R. Weinberg, Camilla Wendt, Robert Winqvist, Alicja Wolk, Anna H. Wu, Taiki Yamaji, Xiaohong R. Yang, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, Alison M. Dunning, Douglas F. Easton, Harry Hemingway, Ute Hamann, Karoline B. Kuchenbaecker
Summary: This study identified 14 genes associated with breast cancer using gene-based aggregation analysis, including two newly discovered genes FMNL3 and AC058822.1. Furthermore, associations with established candidate genes like ESR1 were found through the collaboration of multi-ancestral cohorts, highlighting the importance of diversifying study cohorts. These findings provide new insights into the development of breast cancer.
Editorial Material
Plant Sciences
Enhui Shen, Jun Zou, Jiandong Bao, Qian-Hao Zhu
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Multidisciplinary Sciences
Mitchell J. Machiela, Wen-Yi Huang, Wendy Wong, Sonja I. Berndt, Joshua Sampson, Jonas De Almeida, Mustapha Abubakar, Jada Hislop, Kai-Ling Chen, Casey Dagnall, Norma Diaz-Mayoral, Mary Ferrell, Michael Furr, Alex Gonzalez, Belynda Hicks, Aubrey K. Hubbard, Amy Hutchinson, Kevin Jiang, Kristine Jones, Jia Liu, Erikka Loftfield, Jennifer Loukissas, Jerome Mabie, Shannon Merkle, Eric Miller, Lori M. Minasian, Ellen Nordgren, Brian Park, Paul Pinsky, Thomas Riley, Lorena Sandoval, Neeraj Saxena, Aurelie Vogt, Jiahui Wang, Craig Williams, Patrick Wright, Meredith Yeager, Bin Zhu, Claire Zhu, Stephen J. Chanock, Montserrat Garcia-Closas, Neal D. Freedman
Summary: The PLCO Cancer Screening Trial is a prospective cohort study that developed the PLCO Atlas Project, a large resource for GWAS. Genotyping was performed on participants with available DNA, and GWAS were conducted using a custom pipeline. The PLCO Atlas GWAS Explorer website, with APIs and SDKs, allows for exploration, visualization, and open data access. It currently hosts association data for 90 traits and >78 million genomic markers, focusing on cancer-related phenotypes. The PLCO Atlas is a FAIR resource for cancer research and genetic epidemiology.
Article
Oncology
Denise G. O'Mahony, Susan J. Ramus, Melissa C. Southey, Nicola S. Meagher, Andreas Hadjisavvas, Esther M. John, Ute Hamann, Evgeny N. Imyanitov, Irene L. Andrulis, Priyanka Sharma, Mary B. Daly, Christopher R. Hake, Jeffrey N. Weitzel, Anna Jakubowska, Andrew K. Godwin, Adalgeir Arason, Anita Bane, Jacques Simard, Penny Soucy, Maria A. Caligo, Phuong L. Mai, Kathleen B. M. Claes, Manuel R. Teixeira, Wendy K. Chung, Conxi Lazaro, Peter J. Hulick, Amanda E. Toland, Inge Sokilde Pedersen, Susan L. Neuhausen, Ana Vega, Miguel de la Hoya, Heli Nevanlinna, Mallika Dhawan, Valentina Zampiga, Rita Danesi, Liliana Varesco, Viviana Gismondi, Valerio Gaetano Vellone, Paul A. James, Ramunas Janavicius, Liene Nikitina-Zake, Finn Cilius Nielsen, Thomas van Overeem Hansen, Tanja Pejovic, Ake Borg, Johanna Rantala, Kenneth Offit, Marco Montagna, Katherine L. Nathanson, Susan M. Domchek, Ana Osorio, Maria J. Garcia, Beth Y. Karlan, Anna De Fazio, David Bowtell, Lesley McGuffog, Goska Leslie, Michael T. Parsons, Thilo Doerk, Lisa-Marie Speith, Elizabeth Santana dos Santos, Alexandre Andre B. A. da Costa, Paolo Radice, Paolo Peterlongo, Laura Papi, Christoph Engel, Eric Hahnen, Rita K. Schmutzler, Barbara Wappenschmidt, Douglas F. Easton, Marc Tischkowitz, Christian F. Singer, Yen Yen Tan, Alice S. Whittemore, Weiva Sieh, James D. Brenton, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Jana Soukupova, Michal Vocka, Georgia Chenevix-Trench, Paul D. P. Pharoah, Antonis C. Antoniou, David E. Goldgar, Amanda B. Spurdle, Kyriaki Michailidou, Marian J. E. Mourits, Fabienne Lesueur
Summary: This study assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity and provided evidence for improved classification and clinical management of carriers.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
Jihye Kim, Chen Yuan, Laufey T. Amundadottir, Brian M. Wolpin, Alison P. Klein, Harvey A. Risch, Peter Kraft
Summary: Non-O blood types have a greater risk of pancreatic ductal adenocarcinoma (PDAC) among Western populations. This risk is stronger among secretors than non-secretors, but not influenced by Lewis antigens.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Oncology
Yuxi Liu, Alexander Gusev, Peter Kraft
Summary: Somatic mutations in cancer can be influenced by the genetic background of germline variants, which may affect the expression of specific cancer genes. By integrating tumor sequencing data with germline cancer gene expression data, it was found that variants upregulating ATM expression were associated with a decreased risk of somatic ATM mutations in multiple cancer types. Additionally, eQTLs related to gene expression of GLI2, WRN, CBFB, EPHA5, APC, GLI1, FANCA, and TP53 were associated with mutations in specific cancer genes in different cancer types. These findings suggest that germline-somatic associations are mediated through the expression of specific cancer genes, providing new insights for further research.
Article
Oncology
Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis, Gemma Montalban, Kun Y. Lee, Huaizhi Huang, Carolyn A. Lumby, Jie Na, Lisa R. Susswein, Maegan E. Roberts, Megan L. Marshall, Susan Hiraki, Holly LaDuca, Elizabeth Chao, Amal Yussuf, Tina Pesaran, Susan L. Neuhausen, Christopher A. Haiman, Peter Kraft, Sara Lindstrom, Julie R. Palmer, Lauren R. Teras, Celine M. Vachon, Song Yao, Irene Ong, Katherine L. Nathanson, Jeffrey N. Weitzel, Nicholas Boddicker, Rohan Gnanaolivu, Eric C. Polley, Georges Mer, Gaofeng Cui, Rachid Karam, Marcy E. Richardson, Susan M. Domchek, Siddhartha Yadav, Kathleen S. Hruska, Jill Dolinsky, S. John Weroha, Steven N. Hart, Jacques Simard, Jean Yves Masson, Yuan-Ping Pang, Fergus J. Couch
Summary: Pathogenic protein-truncating variants of RAD51C increase the risk of breast and ovarian cancer. The effects of RAD51C missense variants on its function and cancer predisposition are still unknown. Functional analysis showed that these missense variants disrupt RAD51C activity and are associated with increased breast and ovarian cancer risks. These findings have significant implications for the clinical management of RAD51C variant carriers.
Article
Oncology
Sara Lindstrom, Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James Macdonald, Tabitha Harrison, Constance Turman, Hongjie Chen, Nicholas Mancuso, Theo Bammler, Steve Gallinger, Stephen B. Gruber, Marc J. Gunter, Loic Le Marchand, Victor Moreno, Kenneth Offit, Immaculata De Vivo, Tracy A. O'Mara, Amanda B. Spurdle, Ian Tomlinson, Rebecca Fitzgerald, Puya Gharahkhani, Ines Gockel, Janusz Jankowski, Stuart Macgregor, Johannes Schumacher, Jill Barnholtz-Sloan, Melissa L. Bondy, Richard S. Houlston, Robert B. Jenkins, Beatrice Melin, Margaret Wrensch, Paul Brennan, David C. Christiani, Mattias Johansson, James Mckay, Melinda C. Aldrich, Christopher Amos, Maria Teresa Landi, Adonina Tardon, D. Timothy Bishop, Florence Demenais, Alisa M. Goldstein, Mark M. Iles, Peter A. Kanetsky, Matthew H. Law, Laufey T. Amundadottir, Rachael Stolzenberg-Solomon, Brian M. Wolpin, Alison Klein, Gloria Petersen, Harvey Risch, Stephen J. Chanock, Mark P. Purdue, Ghislaine Scelo, Paul Pharoah, Siddhartha Kar, Rayjean J. Hung, Bogdan Pasaniuc, Peter Kraft
Summary: This study quantified the shared genetic contribution to risk of different cancers and identified novel cancer susceptibility loci using data from 12 cancer genome-wide association studies. The results suggest that some genetic risk variants are shared among cancers, but most of cancer heritability is specific to certain tissues. Cross-disease analysis allows for increased statistical power and the identification of new susceptibility regions. Future studies are likely to discover additional regions associated with the risk of multiple cancer types.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Surgery
Taymaa May, Marcus Bernardini, Stephanie Lheureux, Katja K. H. Aben, Elisa V. Bandera, Matthias W. Beckmann, Javier Benitez, Andrew Berchuck, Line Bjorge, Michael E. Carney, Daniel W. Cramer, Anna deFazio, Thilo Doerk, Diana M. Eccles, Michael Friedlander, Maria Jose Garcia, Ellen L. Goode, Alexander Hein, Claus K. Hogdall, Allan Jensen, Sharon Johnatty, Catherine J. Kennedy, Lambertus A. Kiemeney, Susanne K. Kjaer, Jolanta Kupryjanczyk, Keitaro Matsuo, Valerie McGuire, Francesmary Modugno, Lisa E. Paddock, Tanja Pejovic, Catherine M. Phelan, Marjorie J. Riggan, Cristina Rodriguez-Antona, Joseph H. Rothstein, Weiva Sieh, Honglin Song, Kathryn L. Terry, Anne M. van Altena, Adriaan Vanderstichele, Ignace Vergote, Liv Cecilie Vestrheim Thomsen, Penelope M. Webb, Nicolas Wentzensen, Lynne R. Wilkens, Argyrios Ziogas, Haiyan Jiang, Alicia Tone
Summary: This study analyzed the factors affecting survival in patients with low-grade ovarian serous carcinoma. The results showed that complete surgical cytoreduction has the most impact on improved survival, while the role of chemotherapy is still controversial.
CANADIAN JOURNAL OF SURGERY
(2023)
Article
Genetics & Heredity
Palmira Granados Moreno, Terese Knoppers, Ma'n H. Zawati, Michael Lang, Bartha M. Knoppers, Michael Wolfson, Hermann Nabi, Michel Dorval, Jacques Simard, Yann Joly
Summary: Risk prediction models have the potential to reduce the impact of cancer through advanced warning and improved prevention. However, unclear regulatory requirements for these models raise legal uncertainties and questions about medical device regulations. This paper assesses the legal status of risk prediction models in Canada using the CanRisk tool as an example, and highlights the need for updates to the regulatory framework.
Article
Genetics & Heredity
Janin Klein, Aldrige B. B. Allister, Gunnar Schmidt, Annette Otto, Kai Heinecke, Jordis Bax-Knoche, Carmela Beger, Sarah Becker, Stephan Bartels, Tim Ripperger, Jens Bohne, Thilo Doerk, Brigitte Schlegelberger, Winfried Hofmann, Doris Steinemann
Summary: A novel Alu element insertion in ATM intron 54 (ATM:c.8010+30_8010+31insAluYa5) was identified as a potential contributing factor in hereditary breast and/or ovarian cancer (HBOC) patients. Experimental evidence suggested that this insertion caused exon skipping in the ATM gene. Further epidemiological and functional analyses are needed to clarify the role of ATM:c.8010+30_8010+31insAluYa5 in carcinogenesis.
Article
Mathematical & Computational Biology
Lorena Sandoval, Saleet Jafri, Jeya Balaji Balasubramanian, Praphulla Bhawsar, Jacob L. Edelson, Yasmmin Martins, Wolfgang Maass, Stephen J. Chanock, Montserrat Garcia-Closas, Jonas S. Almeida
Summary: The study developed a prototype personal risk score calculator to demonstrate how the PGS Catalog can be privately and readily applied to direct-to-consumer genetic testing services, such as 23andMe, without the need for software download, installation, or configuration.
BIOINFORMATICS ADVANCES
(2023)