Article
Oncology
E. Pleasance, A. Bohm, L. M. Williamson, J. M. T. Nelson, Y. Shen, M. Bonakdar, E. Titmuss, V Csizmok, K. Wee, S. Hosseinzadeh, C. J. Grisdale, C. Reisle, G. A. Taylor, E. Lewis, M. R. Jones, D. Bleile, S. Sadeghi, W. Zhang, A. Davies, B. Pellegrini, T. Wong, R. Bowlby, S. K. Chan, K. L. Mungall, E. Chuah, A. J. Mungall, R. A. Moore, Y. Zhao, B. Deol, A. Fisic, A. Fok, D. A. Regier, D. Weymann, D. F. Schaeffer, S. Young, S. Yip, K. Schrader, N. Levasseur, S. K. Taylor, X. Feng, A. Tinker, K. J. Savage, S. Chia, K. Gelmon, S. Sun, H. Lim, D. J. Renouf, S. J. M. Jones, M. A. Marra, J. Laskin
Summary: This study demonstrates the importance of comprehensive whole-genome and transcriptome sequencing and analysis in guiding personalized cancer therapy, resulting in positive clinical benefits for a significant proportion of patients.
ANNALS OF ONCOLOGY
(2022)
Review
Immunology
MingHua Cui, YueHui Liu, Li Cheng, Tao Li, YongZhi Deng, Da Liu
Summary: Ovarian cancer is a highly deadly malignancy among women, and its complex pathogenesis remains largely unknown. The tumor microenvironment plays a crucial role in tumor progression and treatment. MicroRNAs have been shown to regulate ovarian cancer development by affecting the tumor microenvironment. Therefore, identifying new tumor biomarkers and therapeutic targets is of great significance for ovarian cancer treatment.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Onur Erdogan, Seyma Colakoglu Ozkaya, Can Erzik, Kaya Bilguvar, Kazim Yalcin Arga, Fatih Bayrakli
Summary: Precision/personalized medicine in oncology, particularly in glioblastoma, holds great promise for improving treatment options and outcomes for patients through molecular profiling and personalized reporting.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
(2023)
Article
Clinical Neurology
Yuhan Xie, Julian N. Acosta, Yixuan Ye, Zachariah S. Demarais, Carolyn J. Conlon, Ming Chen, Hongyu Zhao, Guido J. Falcone
Summary: This study used whole-exome sequencing data from 152,058 UK Biobank participants and identified a significant association between a rare genetic variant at CYP2R1 and the risk of ischemic stroke (IS). Validation analyses further confirmed this association in other cohorts and neuroimaging traits.
Article
Allergy
Craig D. Platt, Fatima Zaman, Wayne Bainter, Kelsey Stafstrom, Abuarahman Almutairi, Margot Reigle, Sabrina Weeks, Raif S. Geha, Janet Chou
Summary: This study compared targeted next-generation sequencing with whole-exome sequencing in a global population of patients with primary immunodeficiency. The results showed that whole-exome sequencing had advantages in diagnostic yield, cost savings, and the potential for identification of novel diseases.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Oncology
Vaidehi Jobanputra, Kazimierz O. Wrzeszczynski, Reinhard Buttner, Carlos Caldas, Edwin Cuppen, Sean Grimmond, Torsten Haferlach, Charles Mullighan, Anna Schuh, Olivier Elemento
Summary: Whole-genome and transcriptome sequencing (WGTS) provides new opportunities for identifying and reporting a larger number of potentially actionable alterations in clinical tumor samples. However, these comprehensive tests also come with challenges such as the extent and diversity of sequence alterations and the complexity of interpretation.
SEMINARS IN CANCER BIOLOGY
(2022)
Review
Oncology
Richard Rosenquist, Edwin Cuppen, Reinhard Buettner, Carlos Caldas, Helene Dreau, Olivier Elemento, Geert Frederix, Sean Grimmond, Torsten Haferlach, Vaidehi Jobanputra, Manja Meggendorfer, Charles G. Mullighan, Sarah Wordsworth, Anna Schuh
Summary: Precision diagnostics is an important aspect of precision medicine, and whole-genome sequencing can be used to predict and respond to cancer treatment. National initiatives aim to introduce clinical whole-genome sequencing as a rational and effective diagnostic tool, but there is a lack of systematic evaluation of the clinical utility of whole-genome sequencing.
SEMINARS IN CANCER BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Cristina Tous, Carmen Munoz-Redondo, Nereida Bravo-Gil, Angela Gavilan, Raquel Maria Fernandez, Juan Antinolo, Elena Navarro-Gonzalez, Guillermo Antinolo, Salud Borrego
Summary: Thyroid carcinoma (TC) can be classified into medullary (MTC) and non-medullary (NMTC). This study aimed to identify susceptibility genes for familial NMTC and non-RET MTC using whole exome sequencing. Rare candidate segregating variants were found in 12 families, with enriched biological processes related to cell proliferation, differentiation, survival, and adhesion. These findings provide insights into molecular mechanisms underlying familial forms of MTC and NMTC, which may contribute to early detection, tailored therapies, and patient management.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Kiran Narta, Manoj Ramesh Teltumbade, Mansi Vishal, Samreen Sadaf, Mohd. Faruq, Hodan Jama, Naushin Waseem, Aparna Rao, Abhijit Sen, Kunal Ray, Arijit Mukhopadhyay
Summary: This study identifies novel genes and gene networks associated with familial forms of primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) through whole-exome sequencing and analysis. Rare mutations with high penetrance were found in glaucoma cases, and the expression profiles of candidate genes were analyzed. The study provides insights into the genetic mechanisms of glaucoma.
Article
Oncology
Robin J. N. Coope, Colin Schlosser, Richard D. Corbett, Stephen Pleasance, Basile Tessier-Cloutier, Pawan Pandoh, Heather Kirk, Simon Haile, Yongjun Zhao, Andrew J. Mungall, Marco A. Marra
Summary: Flexible tissue processing strategies are essential for the practical application of genome-scale technologies in precision oncology research. A semi-automated laser microdissection method has been developed to enrich tumor cells and yield sequence data of sufficient quality.
JOURNAL OF PATHOLOGY
(2021)
Review
Cell Biology
Baojing Tuo, Zhuang Chen, Qin Dang, Chen Chen, Hao Zhang, Shengyun Hu, Zhenqiang Sun
Summary: Exosomal circRNAs play important roles in tumor immunity by affecting various immune cells and serving as potential prognostic and drug sensitivity markers.
CELL DEATH & DISEASE
(2022)
Article
Oncology
Chenyue Zhang, Kai Wang, Wenjie Liu, Jiamao Lin, Zhenxiang Li, Hui Wang, Chenglong Zhao, Yanhua Chen, Shuangxiu Wu, Airong Yang, Jiayan Wu, Haiyong Wang
Summary: This study describes the genomic and immunological landscape of Chinese mucinous pulmonary adenocarcinoma (MPA) and compares it with classical lung adenocarcinoma (LUAD). It is found that MPA has distinct genomic alterations and a more complex genomic profile compared to LUAD. Mutations in specific pathways are associated with survival outcomes, and mutations in immune-related genes also affect prognosis.
FRONTIERS IN ONCOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Hongchun Xiong, Huijun Guo, Meiyu Fu, Yongdun Xie, Linshu Zhao, Jiayu Gu, Shirong Zhao, Yuping Ding, Qidi Du, Jiazi Zhang, Lin Qiu, Xiaomei Xie, Libin Zhou, Zhongxu Chen, Luxiang Liu
Summary: To overcome the challenge posed by the large genome of hexaploid wheat, researchers generated a wheat mutant database through whole-exome sequencing. The database contains a diverse array of genetic variations induced by different mutagenesis methods, providing a valuable resource for functional genomics studies in wheat.
PLANT BIOTECHNOLOGY JOURNAL
(2023)
Article
Genetics & Heredity
Monica H. Wojcik, Maya C. del Rosario, Pankaj B. Agrawal
Summary: A survey of neonatologists across the United States revealed that while most acknowledge the importance of genetic testing for their patients, availability of genetic consultations and exome or genome sequencing in NICUs is not always adequate.
GENETICS IN MEDICINE
(2022)
Article
Oncology
Alexey Larionov, Eleanor Fewings, James Redman, Mae Goldgraben, Graeme Clark, John Boice, Patrick Concannon, Jonine Bernstein, David V. Conti, Marc WECARE Study Collaborative Grp, Marc Tischkowitz
Summary: In this study, researchers used genetic sequencing technologies to investigate the hereditary causes of second breast cancer in individuals who do not have alterations in the main breast cancer genes (BRCA1, BRCA2 and PALB2). They found that younger women with second breast cancers had a higher number of inherited gene alterations compared to women with only one breast cancer. This study improves our understanding of the hereditary contribution to second breast cancers.
Letter
Oncology
Brian K. P. Goh, Laura L. Y. Tan, Nicholas Syn
Article
Gastroenterology & Hepatology
Mark Muthiah, Cheng Han Ng, Kai En Chan, Clarissa Elysia Fu, Wen Hui Lim, Darren Jun Hao Tan, Benjamin Nah, Gwyneth Kong, Jieling Xiao, Jie Ning Yong, Bryan Tan, Nicholas Syn, Jiong-Wei Wang, Nilofer Sayed, Eunice Tan, Nicholas W. S. Chew, Yock Young Dan, Mohammad Shadab Siddiqui, Arun J. Sanyal, Mazen Noureddin
Summary: This study analyzed data from the United States NHANES and found that the new definition of MAFLD increased the diagnosis of fatty liver in patients with T2DM by 68.89%. Patients classified as MAFLD(+)/NAFLD(-) had a higher risk of adverse cardiovascular events, advanced fibrosis, and mortality compared to MAFLD(+)/NAFLD(+) patients. Viral hepatitis significantly increased the risk of advanced fibrosis and all-cause mortality in MAFLD(+)/NAFLD(-) patients.
ANNALS OF HEPATOLOGY
(2023)
Article
Gastroenterology & Hepatology
Giada Aizza, Nadia Russolillo, Alessandro Ferrero, Nicholas L. Syn, Federica Cipriani, Davit Aghayan, Marco Marino, Riccardo Memeo, Vincenzo Mazzaferro, Adrian K. H. Chiow, Iswanto Sucandy, Arpad Ivanecz, Marco Vivarelli, Fabrizio Di Benedetto, Sung-Hoon Choi, Jae Hoon Lee, James O. Park, Mikel Gastaca, Constantino Fondevila, Mikhail Efanov, Fernando Rotellar, Gi-Hong Choi, Ricardo Robles-Campos, Xiaoying Wang, Robert P. Sutcliffe, Johann Pratschke, Chung Ngai Tang, Charing C. Chong, Mathieu D'Hondt, Chee Chien Yong, Andrea Ruzzenente, Paolo Herman, T. Peter Kingham, Olivier Scatton, Rong Liu, Giovanni Battista Levi Sandri, Olivier Soubrane, Alejandro Mejia, Santiago Lopez-Ben, Kazateru Monden, Go Wakabayashi, Daniel Cherqui, Roberto Troisi, Mengqiu Yin, Felice Giuliante, David Geller, Atsushi Sugioka, Bjorn Edwin, Tan-To Cheung, Tran Cong Duy Long, Mohammad Abu Hilal, David Fuks, Kuo-Hsin Chen, Luca Aldrighetti, Ho-Seong Han, Brian K. P. Goh
Summary: This study aimed to investigate the relationship between tumor size and the difficulty of laparoscopic left lateral sectionectomy (L-LLS). Three optimal tumor size cutoffs (40-, 70-, and 100-mm) were identified. As tumor size increased, there was a stepwise increase in the rates of open conversion, operative time, blood loss, intraoperative blood transfusion, Pringle maneuver use, major morbidity, and 30-day readmission.
JOURNAL OF HEPATO-BILIARY-PANCREATIC SCIENCES
(2023)
Review
Psychiatry
Phoebe Yue Aw, Xian Zheng Pang, Caitlin Fern Wee, Natalie Hynn Wei Tan, Ern-Wei Peck, Yao Neng Teo, Yao Hao Teo, Nicholas L. Syn, Mark Y. Chan, Benjamin Y. Q. Tan, Keith Andrew Chan, Leonard L. L. Yeo, Ping Chai, Tiong-Cheng Yeo, Ching-Hui Sia
Summary: This study investigated the co-prevalence of depression and anxiety with stroke and myocardial infarction through a systematic search across five databases. The results showed a high prevalence of depression in patients with stroke and myocardial infarction, suggesting the need for further research to evaluate the effectiveness of screening depression/anxiety in myocardial infarction/stroke.
JOURNAL OF PSYCHOSOMATIC RESEARCH
(2023)
Article
Oncology
Jerold Loh, Jiaxuan Wu, Jenny Chieng, Aurora Chan, Wei-Peng Yong, Raghav Sundar, Soo-Chin Lee, Andrea Wong, Joline S. J. Lim, David S. P. Tan, Ross Soo, Boon-Cher Goh, Bee-Choo Tai, Cheng E. Chee
Summary: Patient selection is crucial in Phase I studies, particularly in heavily pre-treated patients where prognosis estimation is challenging. Existing prognostic models like the Royal Marsden Hospital (RMH) score or the neutrophil-lymphocyte ratio (NLR) have not been validated in current novel therapies or in the Asian Phase I population.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
Joan Choo, Ley Fang Kua, Mu Yar Soe, Bernadette Reyna Asuncion, Benjamin Kye Jyn Tan, Chong Boon Teo, Ryan Yong Kiat Tay, Jimmy So, Asim Shabbir, Kim Guowei, Hon Lyn Tan, Gloria Chan, Haoran Ma, Gokula Krishnan Ramachandran, Jeffrey H. Y. Lum, Cheng Ean Chee, Sriram Sridharan, Patrick Tan, Raghav Sundar, Wei Peng Yong
Summary: PD-1(+)CD8(+) T-cells in gastric cancer are associated with prognosis, chemotherapy and immunotherapy sensitivity, and tumor microenvironment. Tumors with high PD-1 and CD8A expression levels show improved overall survival with immunotherapy and chemotherapy. CD8PD-1(high) tumors have an immunologically active, T-cell inflamed tumor microenvironment.
Article
Gastroenterology & Hepatology
Chang Xu, Kie Kyon Huang, Jia Hao Law, Joy Shijia Chua, Taotao Sheng, Natasha M. Flores, Melissa Pool Pizzi, Atsushi Okabe, Angie Lay Keng Tan, Feng Zhu, Vikrant Kumar, Xiaoyin Lu, Ana Morales Benitez, Benedict Shi Xiang Lian, Haoran Ma, Shamaine Wei Ting Ho, Kalpana Ramnarayanan, Chukwuemeka George Anene-Nzelu, Milad Razavi-Mohseni, Siti Aishah Binte Abdul Ghani, Su Ting Tay, Xuewen Ong, Ming Hui Lee, Yu Amanda Guo, Hassan Ashktorab, Duane Smoot, Shang Li, Anders Jacobsen Skanderup, Michael A. Beer, Roger Sik Yin Foo, Joel Shi Hao Wong, Kaushal Sanghvi, Wei Peng Yong, Raghav Sundar, Atsushi Kaneda, Shyam Prabhakar, Pawel Karol Mazur, Jaffer A. Ajani, Khay Guan Yeoh, Jimmy Bok-Yan So, Patrick Tan
Summary: This study identified ARID1A as the second most frequently mutated driver gene in gastric cancer (GC). Through genomic and single-cell transcriptomic analysis, the effects of ARID1A mutation on genomic, single-cell, and epigenomic levels were revealed, and a potential therapeutic strategy for ARID1A-mutated GC was discovered.
Article
Gastroenterology & Hepatology
Andrea Ruzzenente, Bernardo Dalla Valle, Edoardo Poletto, Nicholas L. Syn, Tousif Kabir, Atsushi Sugioka, Federica Cipriani, Daniel Cherqui, Ho-Seong Han, Thomas Armstrong, Tran Cong Duy Long, Olivier Scatton, Paolo Herman, Johann L. Pratschke, Davit Aghayan, Rong Liu, Marco Marino, Adrian K. H. Chiow, Iswanto Sucandy, Arpad Ivanecz, Marco Vivarelli, Fabrizio Di Benedetto, Sung-Hoon Choi, Jae Hoon Lee, Mikel Prieto, Constantino Fondevila, Mikhail Efanov, Fernando Rotellar, Gi-Hong Choi, Ricardo Robles-Campos, Xiaoying P. Wang, Robert Sutcliffe, Eric C. H. Lai, Charing Chong, Mathieu D'Hondt, Chee Chien Yong, Roberto Troisi, T. Peter Kingham, Alessandro Ferrero, Giovanni Battista Levi Sandri, Olivier Soubrane, Mengqiu Yin, Santiago Lopez-Ben, Vincenzo Mazzaferro, Felice Giuliante, Kazateru Monden, Kohei Mishima, Go Wakabayashi, Tan-To Cheung, David Fuks, Mohammad Abu Hilal, Kuo-Hsin Chen, Luca Aldrighetti, Bjorn Edwin, Brian K. P. Goh
Summary: This multicentric study aimed to investigate the impact of tumor location and size on the difficulty of Laparoscopic- Left Hepatectomy (L- LH). The study found that tumors larger than 40 mm in diameter and located in PS Segment 4a were associated with the highest degree of technical difficulty. However, post-operative outcomes were not significantly different compared to smaller tumors or tumors located in other segments.
JOURNAL OF HEPATO-BILIARY-PANCREATIC SCIENCES
(2023)
Review
Oncology
Natthaya Triphuridet, Shannon S. Zhang, Misako Nagasaka, Yanfei Gao, Joseph J. Zhao, Nicholas L. Syn, Takaomi Hanaoka, Sai-Hong Ignatius Ou, Elaine Shum
Summary: By conducting a systematic review and meta-analysis, we compared the effectiveness of low-dose computed tomography (LDCT) lung cancer screening between non-smokers and smokers. The results showed that non-smokers had a lower risk of lung cancer diagnosis and a significantly reduced mortality rate compared to smokers after receiving LDCT screening.
JOURNAL OF THORACIC ONCOLOGY
(2023)
Article
Surgery
Giammauro Berardi, T. Peter Kingham, Wanguang Zhang, Nicholas L. Syn, Ye-Xin Koh, Bashar Jaber, Davit L. Aghayan, Tiing Foong Siow, Chetana Lim, Olivier Scatton, Paulo Herman, Fabricio Ferreira Coelho, Marco V. Marino, Vincenzo Mazzaferro, Adrian K. H. Chiow, Iswanto Sucandy, Arpad Ivanecz, Sung Hoon Choi, Jae Hoon Lee, Mikel Gastaca, Marco Vivarelli, Felice Giuliante, Bernardo Dalla, Andrea Ruzzenente, Chee-Chien Yong, Zewei Chen, Mengqiu Yin, Constantino Fondevila, Mikhail Efanov, Zenichi Morise, Fabrizio Di Benedetto, Raffaele Brustia, Raffaele Dalla Valle, Ugo Boggi, David Geller, Andrea Belli, Riccardo Memeo, Salvatore Gruttadauria, Alejandro Mejia, James O. Park, Fernando Rotellar, Gi-Hong Choi, Ricardo Robles-Campos, Xiaoying Wang, Robert P. Sutcliffe, Moritz Schmelzle, Johann Pratschke, Eric C. H. Lai, Charing C. N. Chong, Juul Meurs, Mathieu D'Hondt, Kazuteru Monden, Santiago Lopez-Ben, Qu Liu, Rong Liu, Alessandro Ferrero, Giuseppe Maria Ettorre, Federica Cipriani, Franco Pascual, Daniel Cherqui, Junhao Zheng, Xiao Liang, Olivier Soubrane, Go Wakabayashi, Roberto I. Troisi, Tan-To Cheung, Yutaro Kato, Atsushi Sugioka, Mizelle D'Silva, Ho-Seong Han, Phan Phuoc Nghia, Tran Cong duy Long, Bjorn Edwin, David Fuks, Mohammad Abu Hilal, Luca Aldrighetti, Kuo-Hsin Chen, Brian K. P. Goh
Summary: This study aimed to investigate the association between body mass index (BMI) and postoperative outcomes after laparoscopic major hepatectomies. The results showed a linear worsening trend in most perioperative outcomes with increasing BMI. Additionally, there was a U-shaped association between BMI and post-operative major morbidity, with the highest rates observed in underweight and obese patients.
Article
Gastroenterology & Hepatology
Pojsakorn Danpanichkul, Cheng Han Ng, Mark D. Muthiah, Kwanjit Duangsonk, Jie Ning Yong, Darren Jun Hao Tan, Wen Hui Lim, Zhen Yu Wong, Nicholas Syn, Tsubasa Tsusumi, Hirokazu Takahashi, Mohammad Shadab Siddiqui, Vincent Wai-Sun Wong, Christos S. Mantzoros, Daniel Q. Huang, Mazen Noureddin, Rohit Loomba, Arun J. Sanyal, Karn Wijarnpreecha
Summary: Non-alcoholic fatty liver disease (NAFLD) has been increasing in the elderly population globally, calling for immediate and inclusive measures to tackle the rising burden.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2023)
Review
Cardiac & Cardiovascular Systems
Khi Yung Fong, Joseph J. Zhao, Nicholas L. Syn, Parameswaran Nair, Yiong Huak Chan, Pyng Lee
Summary: This network meta-analysis found that bronchial thermoplasty is comparable to biological therapies in terms of reducing asthma exacerbations, improving quality of life, and reducing oral corticosteroid dose. It represents a promising alternative for patients with severe asthma.
RESPIRATORY MEDICINE
(2023)
Article
Immunology
Alfred Wei Chieh Kow, Jiang Liu, Madhukar S. Patel, Eleonora De Martin, Mettu Srinivas Reddy, Yuji Soejima, Nicholas Syn, Kymberly Watt, Qiang Xia, Neeraj Saraf, Refaat Kamel, David Nasralla, Greg Mckenna, Parthi Srinvasan, Ahmed M. Elsabbagh, Vinayendra Pamecha, Kumar Palaniappan, Valeria Mas, Yaman Tokat, Sonal Asthana, Ramkiran Cherukuru, Hiroto Egawa, Jan Lerut, Dieter Broering, Marina Berenguer, Mark Cattral, Pierre-Alain Clavien, Chao-Long Chen, Samir Shah, Zhi-Jun Zhu, Jean Emond, Nancy Ascher, Ashwin Rammohan, Prashant Bhangui, Mohamed Rela, Dong-sik Kim, Toru Ikegami
Summary: This study conducted a comprehensive research on small-for-size syndrome (SFSS) and proposed a grading system based on clinical and biochemical factors to help identify patients at risk of SFSS and initiate timely therapeutic measures.
Meeting Abstract
Gastroenterology & Hepatology
Douglas Chee, Clarissa Elysia Fu, Cheng Han Ng, Nicholas Ws Chew, Jieling Xiao, Yip Han Chin, Jingxuan Quek, Wen Hui Lim, Phoebe Tay, Kai En Chan, Darren Jun Hao Tan, Sitong Zhang, Benjamin Nah, Daniel Q. Huang, Yock Yang Dan, Nicholas Syn, Mohammad Shadab Siddiqui, Arun J. Sanyal, Mazen Noureddin, Mark Muthiah
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Letter
Oncology
Daryl K. A. Chia, Raghav Sundar, Guowei Kim, Jia Jun Ang, Asim Shabbir, Jimmy B. Y. So, Wei Peng Yong
ANNALS OF SURGICAL ONCOLOGY
(2023)