Results 41 to 50 of about 31,569 (215)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Colorectal Carcinoma in a Young Male Diagnosed as Lynch Syndrome with a Rare PMS2 Pathogenic Germline Variant: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Colorectal cancers in young people can be due to inherited mutations in 5-10% of cases, among which Lynch syndrome is the most common. Lynch syndrome is defined as a genetic susceptibility to various types of cancer, with non polyposis colorectal cancer ...
Vijayashree S Gokhale, Vineetha Naga Lakshmi Giduturi, Mahabir Prasad Mishra, Mayur Ambekar, Dnyanada Shrirang Gokhale-Agashe   +4 more
doaj   +1 more source

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

Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review

Hereditary Cancer in Clinical Practice
Background Lynch syndrome is due to error in DNA mismatch repair (MMR) genes caused by germline pathogenic variants. For some families highly suspicious of Lynch syndrome, the diagnosis may not be confirmed.
Wenche Sjursen, Eva Kathrine Svaasand, Bodil Gilde, Anuradha Ravi, Katinka Madtzog Korseth, Ashish Kumar Singh, Jostein Johansen, Olaug Kristin Rødningen, Sofie Geck Sevatdal, Siv Anita Hegre, Maren Fridtjofsen Olsen, Kristine Misund   +11 more
doaj   +1 more source

Current Hypotheses on How Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients

Clinical and Developmental Immunology, 2010
High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival
Kristen M. Drescher, Poonam Sharma, Henry T. Lynch   +2 more
doaj   +1 more source

Artificial Intelligence in Colonoscopy Surveillance for Lynch Syndrome: Emerging Evidence, Lessons Learned From Average‐Risk Populations, and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome and is characterized by an accelerated adenoma‐carcinoma sequence, a relatively higher prevalence of flat and subtle CRC precursor lesions, and exceptionally high adenoma miss rates despite intensive colonoscopy surveillance.
Robert Hüneburg, Querijn N. E. van Bokhorst, Evelien Dekker, Jacob Nattermann   +3 more
wiley   +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

Unusual presentation of Lynch Syndrome

Hereditary Cancer in Clinical Practice, 2009
Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR).
Yu Veronica PCC, Novelli Marco, Payne Stewart J, Fisher Sam, Barnetson Rebecca A, Frayling Ian M, Barrett Ann, Goudie David, Ardern-Jones Audrey, Eeles Ros, Shanley Susan   +10 more
doaj   +1 more source

Acceleration of the DNA methylation clock among lynch syndrome-associated mutation carriers

BMC Medical Genomics, 2022
Background DNA methylation (DNAm) age metrics have been widely accepted as an epigenetic biomarker for biological aging and disease. The purpose of this study is to assess whether or not individuals carrying Lynch Syndrome-associated mutations are ...
Marta Cuadros, Carlos Cano, Sonia Garcia-Rodriguez, José Luis Martín, Antonio Poyatos-Andujar, Francisco Ruiz-Cabello, Susana Pedrinaci, Gema Durán, Manuel Benavides, María Dolores Bautista-Ojeda, Teresa Pereda, Maria Soledad Benitez-Cantos, Pedro Medina, Armando Blanco, Antonio Gonzalez, Paul Lizardi   +15 more
doaj   +1 more source