Results 41 to 50 of about 2,530,443 (206)

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

PLoS ONE, 2014
BackgroundFriedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression.
Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook   +5 more
doaj   +1 more source

Evaluation of microsatellite instability in routine examinations of surgical samples

Indian Journal of Pathology and Microbiology, 2022
Context: Approximately 20%–30% of colon cancer cases have a hereditary basis. The genetic defect may involve mismatch repair (MMR) genes, which results in microsatellite instability (MSI).
Pawel Wlaszczuk, Aleksandra Kuzbinska, Zuzanna Dobrosz, Piotr Palen, Krzysztof Pawlicki   +4 more
doaj   +1 more source

Using gene expression in patients with endometrial intraepithelial neoplasia to assess the risk of cancer

Gynecologic Oncology Reports, 2018
Patients diagnosed with an endometrial cancer precursor lesion on biopsy may be found to have endometrial cancer at the time of subsequent surgery. The current study seeks to identify patients with endometrial intraepithelial neoplasia (EIN) on biopsy ...
Koah Vierkoetter, Jennifer Wong, Hyeong Jun Ahn, David Shimizu, Laura Kagami, Keith Terada   +5 more
doaj   +1 more source

Hereditary colorectal cancer : assessment of genotype-phenotype correlations and analysis of rare susceptibility genes in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) [PDF]

, 2008
Each year 3500 people in Switzerland are diagnosed with colorectal cancer. Approximately 20 percent of all affected patients have two or more first or second-degree relatives with colorectal cancer (at-risk family members). About five percent of these
Necker, Judith
core   +1 more source

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene [PDF]

Oncogene, 2000
Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a brain tumor and of a colorectal tumor, respectively, at a ...
M, De Rosa, C, Fasano, L, Panariello, M I, Scarano, G, Belli, A, Iannelli, F, Ciciliano, P, Izzo   +7 more
openaire   +3 more sources

PMS2 germline mutation c.943C>T (p.Arg315*)‐induced Lynch syndrome‐associated ovarian cancer

Molecular Genetics & Genomic Medicine, 2019
Background Lynch syndrome (LS) is an autosomal dominant cancer predisposition condition caused by germline heterozygous mutations in mismatch repair (MMR) genes. However, as one of the MMR genes, PMS2 mutation‐induced LS‐associated ovarian cancer (LSAOC)
Xiaoqing Guo, Weimin Wu, Hao Gao, Xiaofeng Li, Qizhi He, Yong Zhu, Na Liu   +6 more
doaj   +1 more source

PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps

Global Medical Genetics, 2023
Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1, MSH2, MSH6, and PMS2 (post-meiotic segregation increased 2).
Henriette Poaty, Lauria Batamba Bouya, Aimé Lumaka, Arnaud Mongo-Onkouo, Deby Gassaye   +4 more
doaj   +1 more source

A Lynch Syndrome Family With Germline <i>MLH1</i> c.931A>G Showing Preserved Tumor MMR Immunostaining but MSI-H Status: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Lynch syndrome screening may be complicated by discordant tumor testing results. We report a family carrying the germline MLH1 c.931A>G (p.Lys311Glu) variant in which both the proband and his father had colorectal tumors with retained mismatch repair protein expression by immunohistochemistry but microsatellite instability‐high status on tumor
Cai J, Li Z, Han T, Guo Y, Du Y, Liu D, Liu X.   +6 more
europepmc   +2 more sources

Tissue‐Agnostic Cellular Morphometric Biomarkers for Risk‐Adapted Management Across Gastrointestinal Precancerous Lesions and Cancers

Advanced Science, EarlyView.
An interpretable, unsupervised artificial intelligence framework identifies a 13‐cellular morphometric biomarker (CMB) signature from routine H&E whole‐slide images. Validated across 2,602 patients, the fixed signature generalizes across colorectal, gastric, and esophageal tissues without retraining, stratifies prognosis and precancerous lesion risk ...
Pin Wang, Chengfei Jiang, April W. Mao, Qi Sun, Yijun Lu, Jingjing Wei, Jamie L. Inman, Susan E. Celniker, Antoine M. Snijders, David W. Threadgill, Allan Balmain, Bo Hang, Hang Chang, Lei Wang, Jian‐Hua Mao   +14 more
wiley   +1 more source

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source