Article
Oncology
Marzhan A. Aitmagambetova, Gaziza A. Smagulova, Rustem R. Tuhvatshin, Azhar N. Zheksenova, Ainur Amanzholkyzy
Summary: The aim of this study was to determine the BRCA1 and BRCA2 gene mutation polymorphisms in patients with breast cancer in Kazakhstan and investigate their clinical, histopathological and prognostic characteristics. The results showed a high prevalence of breast cancer in Kazakhstan, with BRCA1 and BRCA2 gene mutations being significant factors. The findings of this study have important implications for the prevention and treatment of breast cancer.
Article
Oncology
B. Silva-Ramirez, E. J. Macias-Gonzalez, O. S. Frausto-Valdes, M. B. Calao-Perez, D. I. Ibarra-Perez, J. E. Torres-Garcia, A. R. Aragon-Tovar, K. Penuelas-Urquides, L. A. Gonzalez-Escalante, M. Bermudez de Leon
Summary: This study aimed to analyze the genetic basis of prostate cancer susceptibility in Mexican men by studying SNPs at the 8q24 locus. The results showed that variants rs16901979, rs1447295, and 7837328 were associated with prostate cancer susceptibility in Mexican men.
PROSTATE CANCER AND PROSTATIC DISEASES
(2022)
Article
Oncology
Chiranjeev Dash, Jiachen Lu, Vicky Parikh, Stacey Wathen, Samay Shah, Ruchi Shah Chaudhari, Lucile Adams-Campbell
Summary: The study compared colorectal cancer screening rates among breast and prostate cancer survivors in Southern Maryland, finding that factors such as living in metropolitan areas and comorbidities like obesity and diabetes were associated with lower screening rates for breast cancer survivors.
Article
Multidisciplinary Sciences
Irawan Yusuf, Bens Pardamean, James W. Baurley, Arif Budiarto, Upik A. Miskad, Ronald E. Lusikooy, Arham Arsyad, Akram Irwan, George Mathew, Ivet Suriapranata, Rinaldy Kusuma, Muhamad F. Kacamarga, Tjeng W. Cenggoro, Christopher McMahan, Chase Joyner, Carissa Pardamean
Summary: The study conducted a genome-wide association study on colorectal cancer in Indonesians, identifying SNP associated with colorectal cancer risk and establishing a polygenic risk model. The findings help characterize the relationship between genetic variants and colorectal cancer risk in diverse Indonesian populations.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Pan Tian, Mengjie Zhong, Gong-Hong Wei
Summary: Prostate cancer is the second most common cancer in men, with nearly 270 genetic loci harboring hundreds of SNPs associated with susceptibility. Noncoding SNPs associated with PCa risk may dysregulate gene expression by modulating transcription factor chromatin binding and allelic enhancer activity. Additionally, one-causal-variant-two-risk genes or multiple-risk-variant-multiple-genes are prevalent in some PCa risk-associated loci.
Review
Oncology
Jabril R. Johnson, Leanne Woods-Burnham, Stanley E. Jr Jr Hooker, Ken Batai, Rick A. Kittles
Summary: Prostate cancer is the second most frequently diagnosed malignancy and cause of death in men worldwide. Disparities in diagnosis, treatment, and survival of PCa patients are correlated to socioeconomic status, education, and access to healthcare. Despite recent studies suggesting equal treatments yield equal outcomes, racial disparities in mortality rates remain significant, indicating molecular and genomic factors may contribute to PCa disparities.
FRONTIERS IN ONCOLOGY
(2021)
Article
Gastroenterology & Hepatology
Jeroen R. Huyghe, Tabitha A. Harrison, Stephanie A. Bien, Heather Hampel, Jane C. Figueiredo, Stephanie L. Schmit, David Conti, Sai Chen, Conghui Qu, Yi Lin, Richard Barfield, John A. Baron, Amanda J. Cross, Brenda Diergaarde, David Duggan, Sophia Harlid, Liher Imaz, Hyun Min Kang, David M. Levine, Vittorio Perduca, Aurora Perez-Cornago, Lori C. Sakoda, Fredrick R. Schumacher, Martha L. Slattery, Amanda E. Toland, Franzel J. B. van Duijnhoven, Bethany Van Guelpen, Antonio Agudo, Demetrius Albanes, M. Henar Alonso, Kristin Anderson, Coral Arnau-Collell, Volker Arndt, Barbara L. Banbury, Michael C. Bassik, Sonja Berndt, Stephane Bezieau, D. Timothy Bishop, Juergen Boehm, Heiner Boeing, Marie-Christine Boutron-Ruault, Hermann Brenner, Stefanie Brezina, Stephan Buch, Daniel D. Buchanan, Andrea Burnett-Hartman, Bette J. Caan, Peter T. Campbell, Prudence R. Carr, Antoni Castells, Sergi Castellvi-Bel, Andrew T. Chan, Jenny Chang-Claude, Stephen J. Chanock, Keith R. Curtis, Albert de la Chapelle, Douglas F. Easton, Dallas R. English, Edith J. M. Feskens, Manish Gala, Steven J. Gallinger, W. James Gauderman, Graham G. Giles, Phyllis J. Goodman, William M. Grady, John S. Grove, Andrea Gsur, Marc J. Gunter, Robert W. Haile, Jochen Hampe, Michael Hoffmeister, John L. Hopper, Wan-Ling Hsu, Wen-Yi Huang, Thomas J. Hudson, Mazda Jenab, Mark A. Jenkins, Amit D. Joshi, Temitope O. Keku, Charles Kooperberg, Tilman Kuhn, Sebastien Kury, Loic Le Marchand, Flavio Lejbkowicz, Christopher Li, Li Li, Wolfgang Lieb, Annika Lindblom, Noralane M. Lindor, Satu Mannisto, Sanford D. Markowitz, Roger L. Milne, Lorena Moreno, Neil Murphy, Rami Nassir, Kenneth Offit, Shuji Ogino, Salvatore Panico, Patrick S. Parfrey, Rachel Pearlman, Paul D. P. Pharoah, Amanda Phipps, Elizabeth A. Platz, John D. Potter, Ross L. Prentice, Lihong Qi, Leon Raskin, Gad Rennert, Hedy S. Rennert, Elio Riboli, Clemens Schafmayer, Robert E. Schoen, Daniela Seminara, Mingyang Song, Yu-Ru Su, Catherine M. Tangen, Stephen N. Thibodeau, Duncan C. Thomas, Antonia Trichopoulou, Cornelia M. Ulrich, Kala Visvanathan, Pavel Vodicka, Ludmila Vodickova, Veronika Vymetalkova, Korbinian Weigl, Stephanie J. Weinstein, Emily White, Alicja Wolk, Michael O. Woods, Anna H. Wu, Goncalo R. Abecasis, Deborah A. Nickerson, Peter C. Scacheri, Anshul Kundaje, Graham Casey, Stephen B. Gruber, Li Hsu, Victor Moreno, Richard B. Hayes, Polly A. Newcomb, Ulrike Peters
Summary: Understanding the etiologic heterogeneity of colorectal cancer is crucial for precision prevention efforts. By performing GWAS meta-analyses, we identified 13 loci that reached genome-wide significance for specific colorectal cancer subsites, with evidence of heterogeneity between anatomical subsites. This suggests that the genetic architectures of proximal and distal CRC are partly distinct, highlighting the importance of considering tumour subsite in studies of risk factors and prevention strategies.
Article
Multidisciplinary Sciences
William D. Dupont, Joan P. Breyer, Spenser H. Johnson, W. Dale Plummer, Jeffrey R. Smith
Summary: The study found that the G84E germline mutation of HOXB13 predisposes to prostate cancer, and multiple rare genetic variants in European-ancestry case-control study populations have significant effects on prostate cancer risk. Independent risk signals were mainly detected from specific variants within SKAP1 and HOXB13.
SCIENTIFIC REPORTS
(2021)
Article
Urology & Nephrology
Anna Plym, Yiwen Zhang, Konrad H. Stopsack, Benedicte Delcoigne, Fredrik Wiklund, Christopher Haiman, Stacey A. Kenfield, Adam S. Kibel, Edward Giovannucci, Kathryn L. Penney, Lorelei A. Mucci
Summary: This study aims to examine whether adherence to a healthy lifestyle can reduce the risk of disease or disease progression in men at an increased genetic risk of prostate cancer. In a prospective study, it was found that high-risk men who adhered to a healthy lifestyle had a lower probability of developing fatal prostate cancer.
Article
Medicine, General & Internal
Pat W. Whitworth, Peter D. Beitsch, Rakesh Patel, Barry Rosen, Gia Compagnoni, Paul L. Baron, Rache Simmons, Eric A. Brown, Linsey Gold, Dennis Holmes, Linda Ann Smith, Michael Kinney, Ian Grady, Patricia Clark, Karen Barbosa, Samuel Lyons, Lee Riley, Cynara Coomer, Lisa Curcio, Antonio Ruiz, Sadia Khan, Heather MacDonald, Kevin Hughes, Mary Kay Hardwick, Brandie Heald, Sandra B. Munro, Sarah M. Nielsen, Edward D. Esplin
Summary: This study examines the implications of universal testing for patients with breast cancer and finds that germline genetic testing informs clinical decision-making and provides access to targeted treatments and clinical trials for all patients with breast cancer.
Article
Gastroenterology & Hepatology
Xuechen Chen, Lina Jansen, Feng Guo, Michael Hoffmeister, Jenny Chang-Claude, Hermann Brenner
Summary: Smoking and genetic predisposition are independent risk factors for colorectal cancer, and considering both factors together can provide powerful risk stratification. Abstaining from smoking can compensate for a substantial proportion of genetically determined CRC risk.
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY
(2021)
Article
Nutrition & Dietetics
Dora Romaguera, Silvia Fernandez-Barres, Esther Gracia-Lavedan, Eva Vendrell, Mikel Azpiri, Emma Ruiz-Moreno, Vicente Martin, Ines Gomez-Acebo, Mireia Obon, Amaia Molinuevo, Ujue Fresan, Ana Molina-Barcelo, Rocio Olmedo-Requena, Adonina Tardon, Juan Alguacil, Marta Solans, Jose M. Huerta, Jose Manuel Ruiz-Dominguez, Nuria Aragones, Tania Fernandez-Villa, Trinidad Dierssen-Sotos, Victor Moreno, Marcela Guevara, Mercedes Vanaclocha-Espi, Macarena Lozano-Lorca, Guillermo Fernandez-Tardon, Gemma Castano-Vinyals, Beatriz Perez-Gomez, Antonio J. Molina, Javier Llorca, Leire Gil, Jesus Castilla, Marina Pollan, Manolis Kogevinas, Pilar Amiano
Summary: The study results indicate an association between the consumption of ultra-processed foods and drinks and an increased risk of colorectal cancer, while there was no significant association with breast or prostate cancer. It is recommended that food policy and public health guidelines focus on the degree of food processing.
CLINICAL NUTRITION
(2021)
Article
Biochemistry & Molecular Biology
Jing Sun, Lijuan Wang, Xuan Zhou, Lidan Hu, Shuai Yuan, Zilong Bian, Jie Chen, Yingshuang Zhu, Susan M. Farrington, Harry Campbell, Kefeng Ding, Dongfeng Zhang, Malcolm G. Dunlop, Evropi Theodoratou, Xue Li
Summary: This study identified three novel genetic variants and three genes associated with colorectal cancer (CRC) through a systematic genome-wide analysis. These genetic variants significantly influenced the expression of their respective genes in colon tissue and interacted with environmental factors such as smoking and alcohol drinking. The findings provide important insights into the genetic architecture of CRC.
HUMAN MOLECULAR GENETICS
(2023)
Article
Multidisciplinary Sciences
Shuji Ito, Xiaoxi Liu, Yuki Ishikawa, David D. Conti, Nao Otomo, Zsofia Kote-Jarai, Hiroyuki Suetsugu, Rosalind A. Eeles, Yoshinao Koike, Keiko Hikino, Soichiro Yoshino, Kohei Tomizuka, Momoko Horikoshi, Kaoru Ito, Yuji Uchio, Yukihide Momozawa, Michiaki Kubo, Shiro BioBank Japan Project, Yoichiro Kamatani, Koichi Matsuda, Christopher A. Haiman, Shiro Ikegawa, Hidewaki Nakagawa, Chikashi Terao
Summary: Leveraging large-scale genetic data and advanced analytical methods, the prediction of mortality risk in prostate cancer shows potential.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Elom K. Aglago, Andre Kim, Yi Lin, Conghui Qu, Marina Evangelou, Yu Ren, John Morrison, Demetrius Albanes, Volker Arndt, Elizabeth L. Barry, James W. Baurley, Sonja Berndt, Stephanie A. Bien, D. Timothy Bishop, Emmanouil Bouras, Hermann Brenner, Daniel D. Buchanan, Ari Budiarto, Robert Carreras-Torres, Graham Casey, Tjeng Wawan Cenggoro, Andrew T. Chen, Jenny Chang-Claude, Xuechen Chen, David Conti, Matthew Devall, Virginia Diez-Obrero, Niki Dimou, David Drew, Jane C. Figueiredo, Steven Gallinger, Graham G. Giles, Stephen B. Gruber, Andrea Gsur, Marc J. Gunter, Heather Hampel, Sophia Harlid, Akihisa Hidaka, Tabitha A. Harrison, Michael Hoffmeister, Jeroen R. Huyghe, Mark A. Jenkins, Kristina Jordahl, Amit D. Joshi, Eric S. Kawaguchi, Temitope O. Keku, Anshul Kundaje, Susanna C. Larsson, Loic Le Marchand, Juan Pablo Lewinger, Li Li, Brigid M. Lynch, Bharuno Mahesworo, Marko Mandic, Mireia Obon-Santacana, Victor Morento, Neil Murphy, Hongmei Men, Rami Nassir, Polly A. Newcomb, Shuji Ogino, Jennifer Ose, Rish K. Pai, Julie R. Palmer, Nikos Papadimitriou, Bens Pardamean, Anita R. Peoples, Elizabeth A. Platz, John D. Potter, Ross L. Prentice, Gad Rennert, Edward Ruiz-Narvaez, Lori C. Sakoda, Peter C. Scacheri, Stephanie L. Schmit, Robert E. Schoen, Anna Shcherbina, Martha L. Slattery, Mariana C. Stern, Yu-Ru Su, Catherine M. Tangen, Stephen N. Thibodeau, Duncan C. Thomas, Yu Tian, Cornelia M. Ulrich, Franzel J. B. van Duijnhoven, Bethany Van Guelpen, Kala Visvanathan, Pavel Vodicka, Jun Wang, Emily White, Alicja Wolk, Michael O. Woods, Anna H. Wu, Natalia Zemlianskaia, Li Hsu, W. James Gauderman, Ulrike Peters, Konstantinos K. Tsilidis, Peter T. Campbell
Summary: Colorectal cancer risk is influenced by genetic, environmental, and lifestyle factors. This study identified a gene-environment interaction between body mass index (BMI) and a specific gene that increases the risk of colorectal cancer.
Article
Medicine, General & Internal
Clare O'Connor, Peter McParland, Darach Crimmins, John Caird, Barbara Cathcart, Heather Hughes, Gabrielle Colleran, Rhona Mahony, Shane Higgins, Stephen Carroll, Jennifer Walsh, Fionnuala M. McAuliffe
Summary: The study reviewed the specialist fetal neurosurgical clinic established to improve patient care in a tertiary referral fetal medicine centre, with a focus on cases primarily neurological in origin. The clinic reviewed cases such as spina bifida and isolated ventriculomegaly, providing multidisciplinary antenatal counseling supported with in utero MRI for families to inform them of likely neonatal outcomes.
IRISH JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Medicine, General & Internal
Anne M. Doherty, Gabrielle C. Colleran, Laura Durcan, Alan D. Irvine, Elizabeth Barrett
Summary: The study investigated the impact of the ongoing Covid-19 pandemic on Irish doctors, focusing on the prevalence of burnout and long covid among senior physicians. Results showed that a high percentage (77%) of doctors screened positive for burnout, with mean score nearly double the cut-off for burnout. Additionally, approximately 64% reported negative effects of Covid-19 on their mental health, and a quarter had experience with long-covid secondary to the virus. This highlights the need for further evaluation and mitigation measures to support frontline staff during the pandemic.
IRISH JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Brian M. Moloney, Peter F. McAnena, Sami M. Abd Elwahab, Angie Fasoula, Luc Duchesne, Julio D. Gil Cano, Catherine Glynn, AnnaMarie O'Connell, Rachel Ennis, Aoife J. Lowery, Michael J. Kerin
Summary: This study evaluated the clinical application of a low-power electromagnetic wave microwave breast imaging (MBI) system. The results showed that the MBI system was able to detect and localize the majority of breast lesions, including benign lesions and breast cancer. Patients reported a positive experience with the system, and no device-related adverse events were recorded. This study suggests that the MBI system has the potential to serve as a noninvasive, non-ionizing, and painless adjunct to breast cancer diagnosis.
ACADEMIC RADIOLOGY
(2022)
Article
Medicine, General & Internal
Evan J. Fahy, Conor M. Sugrue, Deirdre Jones, Padraic Regan, Alan Hussey, Shirley Potter, Michael Kerin, Niall M. McInerney, Jack Kelly
Summary: Cutaneous squamous cell carcinoma (SCC) of the scalp is a potentially fatal disease that is more common in elderly males from rural communities. Patients living further from care tend to present with larger tumors.
IRISH JOURNAL OF MEDICAL SCIENCE
(2022)
Review
Oncology
Domhnall J. O'Connor, Matthew G. Davey, Laura R. Barkley, Michael J. Kerin
Summary: Patients with invasive lobular carcinoma of the breast are less likely to achieve complete pathological response, receive breast-conserving surgery, and have negative margin status compared to patients with invasive ductal carcinoma.
Article
Clinical Neurology
Sean Curran, David O'Brien, Michael Kerin
Summary: This study examined the exposure of undergraduate medical students in Irish medical schools to neurosurgery and their desire for greater emphasis on this specialty. The findings suggest that organizing neurosurgical lecture days increased students' interest in further learning and clinical exposure to neurosurgery.
BRITISH JOURNAL OF NEUROSURGERY
(2022)
Article
Medicine, General & Internal
Matthew G. Davey, John P. M. O'Donnell, Elizabeth Maher, Cliona McMenamin, Peter F. McAnena, Michael J. Kerin, Nicola Miller, Aoife J. Lowery
Summary: The study identified significant differences in the perception of GDPR and willingness to consent to data being used in clinical research between doctors and patients. Doctors are more willing to allow their personal data to be processed anonymously and require less explicit consent compared to patients. Patient's level of education has a significant impact on GDPR awareness.
IRISH JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Multidisciplinary Sciences
Paul A. Wilson, Sara Santos Franco, Liu He, Nicholas W. Galwey, Jackie Meakin, Rebecca McIntyre, Simon M. McHugh, Michael A. Nolan, Sarah L. Spain, Thaddeus Carlson, Mercedes Lobera, Justin P. Rubio, Bill Davis, Linda C. McCarthy
Summary: The study revealed that genotype affects transcriptional effects in CD4(+) T cells, but not significantly cell differentiation and frequency. The investigation suggests that the rs4845604 GG genotype may be associated with a differential detoxification response.
Review
Surgery
Matthew G. Davey, Ferdia Browne, Nicola Miller, Aoife J. Lowery, Michael J. Kerin
Summary: This study confirms that achieving a pathological complete response (pCR) is associated with improved survival outcomes in patients with HER2(+) breast cancer. Patients who achieved pCR had significantly better event-free survival, recurrence-free survival, and overall survival compared to those with residual disease. These findings support the use of pCR as a biomarker for survival and as an appropriate endpoint for clinical research.
Review
Surgery
Matthew G. Davey, Colm O'Flaherty, Eoin F. Cleere, Aoife Nohilly, James Phelan, Evan Ronane, Aoife J. Lowery, Michael J. Kerin
Summary: Axillary lymph node status is a strong prognostic indicator in invasive breast cancer, but the necessity of sentinel lymph node biopsy (SLNB) for ductal carcinoma in situ (DCIS) is unclear. This study aimed to determine the likelihood of SLNB positivity in DCIS patients and identify predictive parameters.
Article
Oncology
Leonor Rodriguez, Pat Dolan, Michael Kerin, AnnMarie Groarke
Summary: This study explores the unmet needs of mothers and their adolescent children facing cancer. The research finds that cancer presents an emotional burden for both mothers and children, with difficulties in dealing with emotions related to cancer recurrence. Mothers struggle to identify their children's unmet needs and lack the skills to approach them, adding to their illness burden and feelings of guilt.
EUROPEAN JOURNAL OF ONCOLOGY NURSING
(2023)
Review
Surgery
Matthew G. Davey, Ferdia Browne, Martin S. Davey, Stewart R. Walsh, Michael J. Kerin, Aoife J. Lowery
Summary: This study conducted a systematic review and network meta-analysis to evaluate the optimal neck closure method after thyroid and parathyroid surgery. The results showed that subcuticular sutures provide better patient-reported outcomes and cosmesis compared to other closure methods, without compromising the safety of the procedure.
Review
Surgery
Eoin F. Cleere, Matthew G. Davey, Thomas J. Crotty, Orla Young, Aoife J. Lowery, Michael J. Kerin
Summary: Patients with a history of bariatric surgery have a significantly increased risk of hypocalcaemia after thyroidectomy, and the management of hypocalcaemia in these patients is challenging.
BRITISH JOURNAL OF SURGERY
(2022)
Review
Surgery
M. G. Davey, E. J. Ryan, M. S. Davey, A. J. Lowery, N. Miller, M. J. Kerin
Summary: Studies have found that high PD-L1 expression in breast cancer is associated with aggressive clinical and pathological characteristics, and is more likely to achieve pathological complete response following treatment, but is also associated with lower overall survival rates.
BRITISH JOURNAL OF SURGERY
(2021)
Article
Oncology
Matthew G. Davey, Eanna J. Ryan, Daniel Burke, Kevin McKevitt, Peter F. McAnena, Michael J. Kerin, Aoife J. Lowery
Summary: Routine SLNB may not be necessary in elderly patients diagnosed with ER+, cLN- EBC, and genomic testing may guide ACTX prescription in this group.
BREAST CANCER-BASIC AND CLINICAL RESEARCH
(2021)