Results 131 to 140 of about 21,552 (215)

PMS2 Gene Mutation [PDF]

, 2020
openaire   +1 more source

Deleterious PMS2 Gene Mutation [PDF]

, 2020
openaire   +1 more source

PATH-38. ROSETTE-FORMING GLIONEURONAL TUMOR IS DEFINED BY FGFR1 ACTIVATING ALTERATIONS WITH FREQUENT ACCOMPANYING PI3K AND MAPK PATHWAY MUTATIONS [PDF]

, 2019
BACKGROUND Rosette-forming glioneuronal tumor (RGNT) is an uncommon CNS tumor originally described in the fourth ventricle characterized by a low-grade glial neoplasm admixed with a rosette-forming neurocytic component.
Aghi, Manish, Ann Oberheim-Bush, Nancy, Banerjee, Anu, Bannykh, Serguei, Berger, Mitchel, Bollen, Andrew, Born, Donald, Brathwaite, Carole, Buerki, Robin, Butowski, Nicholas, Calixto-Hope, Lucas, Chamyan, Gabriel, Chang, Susan, Clarke, Jennifer, Cooney, Tabitha, Devine, Patrick, Fata, Cynthia, Grafe, Marjorie, Grenert, James, Guo, Hua, Gupta, Nalin, Hervey-Jumper, Shawn, Hofmann, Jeffrey, Jin, Lee-way, Khatib, Ziad, Kleinschmidt-DeMasters, Bette, Kline, Cassie, Lechpammer, Mirna, Lee, Han, Lee, Julieann, Maher, Ossama, McDermott, Mike, Onodera, Courtney, Pekmezci, Melike, Pelaez, Liset, Perry, Arie, Phillips, Joanna, Raffel, Corey, Samuel, David, Scharnhorst, David, Sloan, Emily, Solomon, David, Sun, Peter, Taylor, Jennie, Theodosopoulos, Philip, Tihan, Tarik, Torkildson, Joseph, Van Ziffle, Jessica, Vogel, Hannes, Wood, Matthew   +49 more
core  

Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report

Diagnostic Pathology
Background Multiple primary malignancies are rare in cancer patients, and risk factors may include genetics, viral infection, smoking, radiation, and other environmental factors. Lynch syndrome (LS) is the most prevalent form of hereditary predisposition
Tiansong Zhang, Xiaoqiang Huang, Wenjie Liu, Xiulan Ling, Zhenping Su, Mengwei Huang, Shuanlong Che   +6 more
doaj   +1 more source

Universal testing in endometrial cancer in Sweden

Hereditary Cancer in Clinical Practice
Background The aim of the study was to test a universal screening strategy on endometrial cancer to evaluate its effectiveness to find Lynch Syndrome (LS) cases to two established clinical criteria: Amsterdam II criteria, and the revised Bethesda ...
Emil Andersson, Anne Keränen, Kristina Lagerstedt-Robinson, Sam Ghazi, Annika Lindblom, Emma Tham, Miriam Mints   +6 more
doaj   +1 more source

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer. [PDF]

Cancer Manag Res, 2019
Liccardo R, Della Ragione C, Mitilini N, De Rosa M, Izzo P, Duraturo F.   +5 more
europepmc   +1 more source

P501: Pathogenic variants detected in high homology segments of the PMS2 gene in a Brazilian sample

Genetics in Medicine Open, 2023
Thalitta Lima, Daniele Paixão, Larissa Bueno, Rafaela Sousa, Juliana Carnavalli, Maria Júlia Bezerra, Flavio Bitencourt, Maria Claudia Luciano, Rosane Sant'ana, Caroline Moreira, Wagner Baratela, Miguel Mitne-Neto   +11 more
openaire   +2 more sources

An Integrated Clinical, Germline, Somatic, and In Silico Approach to Assess a Novel PMS2 Gene Variant Identified in Two Unrelated Lynch Syndrome Families. [PDF]

Cancers (Basel)
Fasano C, Buonadonna AL, Forte G, Lepore Signorile M, Grossi V, De Marco K, Sanese P, Manghisi A, Tutino NM, Armentano R, Valentini AM, Disciglio V, Simone C.   +12 more
europepmc   +1 more source

Predictors of Immune Checkpoint Blockade Response in dMMR Colorectal Cancer Using an Integrated Immune-Enhanced Multi-Omics Platform. [PDF]

Clin Cancer Res
Sinicrope FA, Sharma N, Mohiuddin M, Saberzadeh-Ardestani B, Graham RP, Lewis JT, Li B, Abbott CW, Boyle SM.   +8 more
europepmc   +1 more source

High PMS2 Expression-Based Nomogram for Risk Stratification in Resected Hepatocellular Carcinoma: Application to Recurrence and Neoadjuvant Therapy Selection. [PDF]

J Cancer
Gong W, Han R, Sun L, Gao Y, Han Z, Wang Y, Xia Y, Wei Y, Song T, Chen L, Tian X.   +10 more
europepmc   +1 more source