Results 61 to 70 of about 32,048 (238)

Biochemical Analysis of the Human Mismatch Repair Proteins hMutSα MSH2G674A-MSH6 and MSH2-MSH6T1219D [PDF]

Journal of Biological Chemistry, 2012
The human MutSalpha protein, a heterodimer between MSH2 and MSH6, initiates DNA mismatch repair (MMR) by recognizing mismatched bases that result from replication errors. Msh2 G674A or Msh6
Hui, Geng, Miho, Sakato, Vanessa, DeRocco, Kazuhiko, Yamane, Chunwei, Du, Dorothy A, Erie, Manju, Hingorani, Peggy, Hsieh   +7 more
openaire   +2 more sources

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

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

HNPCC: Six new pathogenic mutations

BMC Medical Genetics, 2004
Background Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR). HNPCC accounts for approximately 2 to 5%
Epplen Joerg T, Hahn Stephan A, Brasch Frank E, Vieland Judith, Kunstmann Erdmute, Schulmann Karsten, Schmiegel Wolff   +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

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

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. [PDF]

, 2017
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesLynch syndrome, caused by germline mutations in the mismatch repair genes, is ...
Alexiusdottir, Kristin, Arngrimsson, Reynir, Bekaii-Saab, Tanios, de la Chapelle, Albert, Einarsdottir, Sylvia, Frankel, Wendy L, Goldberg, Richard M, Hampel, Heather, Haraldsdottir, Sigurdis, Haraldsson, Stefan, Hitchins, Megan, Jonasson, Jon G, Kehr, Birte, Masson, Gisli, Moller, Pall H, Pritchard, Colin C, Rafnar, Thorunn, Shields, Peter G, Sigurdsson, Asgeir, Sigurdsson, Fridbjorn, Snaebjornsson, Petur, Stefansson, Kari, Stefansson, Tryggvi, Steinarsdottir, Margret, Sulem, Patrick, Weng, Daniel, Yilmaz, Ahmet   +26 more
core   +2 more sources

Association of rare MSH6 variants with familial breast cancer [PDF]

Breast Cancer Research and Treatment, 2009
Germline mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 predispose to Lynch syndrome (also known as hereditary non-polyposis colorectal cancer). Recently, we have shown that the CHEK2 1100delC mutation also is associated with Lynch syndrome/Lynch syndrome-associated families albeit in a polygenic setting.
Wasielewski, Marijke, Riaz, Muhammad, Vermeulen, Joyce, van den Ouweland, Ans, Labrijn-Marks, Ineke, Olmer, Renske, van der Spaa, Linda, Klijn, Jan G. M., Meijers-Heijboer, Hanne, Dooijes, Dennis, Schutte, Mieke   +10 more
openaire   +5 more sources

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Gastric mixed large cell neuroendocrine-adenosquamous carcinoma with heterogenous MSH6 loss in Lynch syndrome

Human Pathology Reports, 2021
Lynch syndrome (LS) is the most common hereditary gastrointestinal cancer predisposition syndrome and is caused by mutations in DNA mismatch repair (MMR) genes. Deficiency of MMR proteins manifests as the microsatellite instability-high (MSI-H) phenotype.
Jillian C. Dawley, Y. Haroon Ahmad, Taylor S. Riall, Belinda L. Sun   +3 more
doaj   +1 more source