Results 171 to 180 of about 70,351 (245)

Case Report: Metastatic small bowel adenocarcinoma with DNA mismatch repair deficiency in an organ transplant recipient treated with anti-PD-1 immunotherapy. [PDF]

Front Oncol
Phung QH, Tsai AK, Park BU, Schat R, Spong R, Tsai LJ, Kulkarni AA, Antonarakis ES, Gupta A.   +8 more
europepmc   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

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

DNA mismatch repair system expression in salivary gland tumors: A Systematic Review. [PDF]

Med Oral Patol Oral Cir Bucal
Alves GM, Severino-Lazo RJ, Amaral-Silva GK, Silveira FM, Carvalho MD.   +4 more
europepmc   +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

Double-Strand Breaks Induce Nuclear-Cytosolic Shuttling of Polymorphic DNA Mismatch Repair Protein MutS Homolog 3 and Binding to NEMO/IKKγ in Colon Cancer Cells. [PDF]

Gastro Hep Adv
Tseng-Rogenski SS, Koi M, Carethers JM.
europepmc   +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

The Relationship Between DNA Mismatch Repair Status and Clinicopathologic Characteristics in Colon Cancer. [PDF]

Turk J Gastroenterol
Doğan M, Kılıç M, Tatlı Doğan H.
europepmc   +1 more source

Detection of MSI signals from peripheral blood for monitoring response to immune checkpoint blockade therapy in patients with advanced microsatellite‐unstable gastrointestinal cancers: A pilot study

International Journal of Cancer, EarlyView.
What's New? A substantial proportion of patients with microsatellite‐unstable gastrointestinal adenocarcinomas do not benefit from immunotherapy. This study demonstrates that microsatellite instability can be reliably detected in plasma‐derived extracellular vesicle DNA from patients with microsatellite‐unstable gastrointestinal cancers.
Aysel Ahadova, Lena Bohaumilitzky, Thomas Walle, Joscha A. Kraske, Mirjam Tariverdian, Ulrike Ganserer‐Schmitt, Ingrid Hausser‐Siller, Vera Fuchs, Nina Nelius, Gizem Mehtap Erisen, Johannes Gebert, Albrecht Stenzinger, Dirk Jäger, Magnus von Knebel Doeberitz, Georg Martin Haag, Elena Busch, Matthias Kloor   +16 more
wiley   +1 more source

Alcohol and colorectal cancer risk, subclassified by mutational signatures of DNA mismatch repair deficiency. [PDF]

J Natl Cancer Inst
Fang A, Ugai T, Gurjao C, Zhong R, Liu Z, Zhang X, Wang P, Nowak J, Wang M, Giannakis M, Ogino S, Zhang X, Giovannucci E.   +12 more
europepmc   +1 more source