Results 111 to 120 of about 7,071,839 (288)

Living at genetic risk: The patient experience of Lynch syndrome

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome is a germline cancer predisposition syndrome caused by a variant in one of four genes. Lynch syndrome places individuals at significantly higher risk for a range of cancers, especially colorectal and endometrial. Depending on which gene is affected, the risk of ovarian, gastric, small bowel, pancreatic, biliary urothelial, brain,
Nicola Reents, Georgina Hoffmann, Kelly Kohut   +2 more
wiley   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Stacked neural network for predicting polygenic risk score

Scientific Reports
In recent years, the utility of polygenic risk scores (PRS) in forecasting disease susceptibility from genome-wide association studies (GWAS) results has been widely recognised.
Sun bin Kim, Joon Ho Kang, MyeongJae Cheon, Dong Jun Kim, Byung-Chul Lee   +4 more
doaj   +1 more source

ApplyPolygenicScore: An R package for applying polygenic risk score models

Genetics in Medicine Open
Purpose: A polygenic score (PGS) predicts an individual’s genetic predisposition to a complex trait. A PGS is created by estimating the relative contributions of multiple common variants to the overall trait, creating a polygenic risk model (PGM).
Nicole Zeltser, Rachel M.A. Dang, Rupert Hugh-White, Daniel Knight, Jaron Arbet, Paul C. Boutros   +5 more
doaj   +1 more source

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source

Deep-learning prediction of cardiovascular outcomes from routine retinal images in individuals with type 2 diabetes

Cardiovascular Diabetology
Background Prior studies have demonstrated an association between retinal vascular features and cardiovascular disease (CVD), however most studies have only evaluated a few simple parameters at a time.
Mohammad Ghouse Syed, Emanuele Trucco, Muthu R. K. Mookiah, Chim C. Lang, Rory J. McCrimmon, Colin N. A. Palmer, Ewan R. Pearson, Alex S. F. Doney, Ify R. Mordi   +8 more
doaj   +1 more source

Tolerability of Adjuvant Nivolumab in Esophageal or Gastroesophageal Junction Cancer: A Real‐World Study

International Journal of Cancer, EarlyView.
ABSTRACT Adjuvant nivolumab is approved for esophageal or gastroesophageal junction cancer after neoadjuvant chemoradiotherapy and resection. In the CheckMate‐577 trial, Grade 3–5 nivolumab‐related adverse events (AEs) occurred in 5% of patients, with early discontinuation due to toxicity in 9%. However, real‐world data on immunotherapy‐related adverse
Michelle Koops van ’t Jagt, Anniek Strijdhorst, Tamara Jessica Huizer, Esther Albertien Kleibeuker, Sarah Derks, Bianca Mostert, Hanneke van Laarhoven, Jacco Juri de Haan   +7 more
wiley   +1 more source

PRE-PDAC: Evaluation of Polygenic Risk scorE for Pancreatic Ductal AdenoCarcinoma risk prediction: a case-control study protocol

This case-control study evaluates the association between the Polygenic Risk Score (PRS) and pancreatic ductal adenocarcinoma (PDAC) and develops a multifactorial risk score integrating established predisposing factors such as smoking and diabetes.
Paolo Giorgio Arcidiacono, Gabriele Capurso, Stefania Boccia, Livia Archibugi, Eleonora Pascucci, Alessandra Maio, Luigi Russo, Laura Apadula, Claudio Sette, Doriana Lacalaprice, Alessandra Verduchi, Roberta Pastorino   +11 more
core   +2 more sources

Incorporating polygenic risk into the Leicester Risk Assessment score for 10-year risk prediction of type 2 diabetes [PDF]

Aims: We evaluated whether incorporating information on ethnic background and polygenic risk enhanced the Leicester Risk Assessment (LRA) score for predicting 10-year risk of type 2 diabetes.
Littlejohns, TJ, Liu, X, Clifton, L, Bragg, F, Besevic, J, Gray, LJ, Trichia, E, Khunti, K, Hunter, DJ, Collister, JA   +9 more
core   +2 more sources

Cumulative genetic risk for asthma contributes to disease severity in children with asthma

Journal of Allergy and Clinical Immunology: Global
Background: Childhood-onset asthma is highly heritable, with nearly 200 risk loci identified in genome-wide association studies. Aggregated polygenic risk scores (PRSs) can be used to quantify genetic predisposition to asthma, but their power to predict ...
Matthew Dapas, PhD, William Wentworth-Sheilds, MS, Emma E. Thompson, PhD, Rajesh Kumar, MD, Elizabeth Lippner, MD, Robert A. Wood, MD, George T. O’Connor, MD, Gurjit K. Khurana Hershey, MD, PhD, Rebecca S. Gruchalla, MD, PhD, Andrew H. Liu, MD, Edward M. Zoratti, MD, Leonard B. Bacharier, MD, Stephanie Lovinsky-Desir, MD, Michele A. Gill, MD, PhD, William J. Sheehan, MD, Shilpa J. Patel, MD, Matthew C. Altman, MD, James E. Gern, MD, Cynthia M. Visness, PhD, Peter J. Gergen, MD, Patrice M. Becker, MD, Daniel J. Jackson, MD, Carole Ober, PhD   +22 more
doaj   +1 more source