Results 51 to 60 of about 23,834 (214)

Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency [PDF]

Modern Pathology, 2013
Immunohistochemical staining for DNA mismatch repair proteins may be affected by various biological and technical factors. Staining variations that could potentially lead to erroneous interpretations have been recognized. A recently recognized staining variation is the significant reduction of staining for MSH6 in some colorectal carcinomas.
Jinru, Shia, Liying, Zhang, Moshe, Shike, Min, Guo, Zsofia, Stadler, Xiaoling, Xiong, Laura H, Tang, Efsevia, Vakiani, Nora, Katabi, Hangjun, Wang, Ruben, Bacares, Jeanine, Ruggeri, C Richard, Boland, Marc, Ladanyi, David S, Klimstra   +14 more
openaire   +2 more sources

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 comparative analysis of MMR immunohistochemistry panels: Evaluating the utility of four-protein versus two-protein panels in endometrial cancer patients

Journal of the Formosan Medical Association
Aims: This study aimed to assess the accuracy of a two-protein panel for mismatch repair (MMR) immunohistochemistry (IHC) compared to a four-protein panel in a cohort of endometrial cancer patients.
Yu-Sheng Huang, Yu-Che Ou, Chen-Hsuan Wu, Jui Lan, Chao-Cheng Huang, Hung-Chun Fu, Szu-Wei Huang, Szu-Yu Huang, Shao-Chi Wang, Hao Lin   +9 more
doaj   +1 more source

Mismatch repair protein deficiency in endometriosis: Precursor of endometriosis-associated ovarian cancer in women with lynch syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We aimed to elucidate the pathogenesis of ovarian cancer through the loss of mismatch repair (MMR) proteins in women with Lynch syndrome (LS) in this report.
Munekage Yamaguchi, Yoshiki Mikami, Maki Kusunoki, Saori Yoshimura, Takeshi Motohara, Eiji Kondoh   +5 more
doaj   +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

Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management

Hereditary Cancer in Clinical Practice, 2009
Background Lynch syndrome (LS) is associated with a high risk for colorectal cancer (CRC) and extracolonic malignancies, such as endometrial carcinoma (EC). The risk is dependent of the affected mismatch repair gene.
Ramsoekh Dewkoemar, Wagner Anja, van Leerdam Monique E, Dooijes Dennis, Tops Carli MJ, Steyerberg Ewout W, Kuipers Ernst J   +6 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

MSH6 (mutS homolog 6 (E. Coli)) [PDF]

, 2007
Review on MSH6 (mutS homolog 6 (E.
S Banerjee, Banerjee, S
core   +1 more source

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report

, 2023
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. However, mosaic variants in the MMR genes have been rarely described.
Georgeson, P, Jessie Xue, Jihoon E. Joo, Walker, R, Buchanan, DD, Winship, IM, Ainsley Campbell, Joseland, S, Ingrid M. Winship, Clendenning, M, Campbell, A, Finlay A. Macrae, Julia Como, Mark A. Jenkins, Daniel D. Buchanan, Xue, J, Stephanie Di Palma, Peter Georgeson, Sharelle Joseland, Di Palma, S, Mahmood, K, Como, J, Chan, JM, Susan G. Preston, Preston, SG, Jenkins, MA, James M. Chan, Romy Walker, Khalid Mahmood, Christophe Rosty, Mark Clendenning, Joo, JE, Rosty, C, Macrae, FA   +33 more
core   +1 more source

S6K1 phosphorylates Cdk1 and MSH6 to regulate DNA repair

eLife, 2022
The mTORC1 substrate, S6 Kinase 1 (S6K1), is involved in the regulation of cell growth, ribosome biogenesis, glucose homeostasis, and adipogenesis. Accumulating evidence has suggested a role for mTORC1 signaling in the DNA damage response.
Amina Jbara, Vered Ben Hur, Adi Amar-Schwartz, Yuval Cohen, Georgina D Barnabas, Eliran Arbib, Zahava Siegfried, Bayan Mashahreh, Fouad Hassouna, Asaf Shilo, Mohammad Abu-Odeh, Michael Berger, Reuven Wiener, Rami Aqeilan, Tamar Geiger, Rotem Karni   +15 more
openaire   +3 more sources