scholarly journals Somatic deletions of genes regulating MSH2 protein stability cause DNA mismatch repair deficiency and drug resistance in human leukemia cells

2011 ◽  
Vol 17 (10) ◽  
pp. 1298-1303 ◽  
Author(s):  
Barthelemy Diouf ◽  
Qing Cheng ◽  
Natalia F Krynetskaia ◽  
Wenjian Yang ◽  
Meyling Cheok ◽  
...  
Keyword(s):  
Drug Resistance ◽  
Mismatch Repair ◽  
Leukemia Cells ◽  
Human Leukemia ◽  
Mismatch Repair Deficiency ◽  
Dna Mismatch ◽  
Human Leukemia Cells ◽  
Repair Deficiency ◽  
Msh2 Protein ◽  
Dna Mismatch Repair Deficiency

Prediction Model for Gastric Cancer With DNA Mismatch Repair Deficiency

2021 ◽  
Vol 41 (2) ◽  
pp. 975-982
Author(s):  
OKIHIDE SUZUKI ◽  
TATSURO YAMAGUCHI ◽  
MINORU FUKUCHI ◽  
ERITO MOCHIKI ◽  
TOMIO ARAI ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Prediction Model ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Mismatch Repair Deficiency ◽  
Dna Mismatch ◽  
Repair Deficiency ◽  
Dna Mismatch Repair Deficiency

scholarly journals DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer

Cancer ◽  
2017 ◽  
Vol 123 (19) ◽  
pp. 3732-3743 ◽  
Author(s):  
Charité N. Ricker ◽  
Diana L. Hanna ◽  
Cheng Peng ◽  
Nathalie T. Nguyen ◽  
Mariana C. Stern ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Mismatch Repair Deficiency ◽  
Dna Mismatch ◽  
Hereditary Syndromes ◽  
Repair Deficiency ◽  
Dna Mismatch Repair Deficiency

scholarly journals DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics

2016 ◽  
Vol 34 (25) ◽  
pp. 3039-3046 ◽  
Author(s):  
Nicole de Rosa ◽  
Miguel A. Rodriguez-Bigas ◽  
George J. Chang ◽  
Jula Veerapong ◽  
Ester Borras ◽  
...  
Keyword(s):  
Rectal Cancer ◽  
Mismatch Repair ◽  
Pathologic Response ◽  
Mismatch Repair Deficiency ◽  
Cancer Specific Survival ◽  
Dna Mismatch ◽  
Repair Deficiency ◽  
Rectal Cancers ◽  
Dna Mismatch Repair Deficiency

Purpose DNA mismatch repair deficiency (dMMR) hallmarks consensus molecular subtype 1 of colorectal cancer. It is being routinely tested, but little is known about dMMR rectal cancers. The efficacy of novel treatment strategies cannot be established without benchmarking the outcomes of dMMR rectal cancer with current therapy. We aimed to delineate the impact of dMMR on prognosis, the predicted response to fluoropyrimidine-based neoadjuvant therapy, and implications of germline alterations in the MMR genes in rectal cancer. Methods Between 1992 and 2012, 62 patients with dMMR rectal cancers underwent multimodality therapy. Oncologic treatment and outcomes as well as clinical genetics work-up were examined. Overall and rectal cancer–specific survival were calculated by the Kaplan-Meier method. Results The median age at diagnosis was 41 years. MMR deficiency was most commonly due to alterations in MSH2 (53%) or MSH6 (23%). After a median follow-up of 6.8 years, the 5-year rectal cancer–specific survival was 100% for stage I and II, 85.1% for stage III, and 60.0% for stage IV disease. Fluoropyrimidine-based neoadjuvant chemoradiation was associated with a complete pathologic response rate of 27.6%. The extent of surgical resection was influenced by synchronous colonic disease at presentation, tumor height, clinical stage, and pelvic radiation. An informed decision for a limited resection focusing on proctectomy did not compromise overall survival. Five of the 11 (45.5%) deaths during follow-up were due to extracolorectal malignancies. Conclusion dMMR rectal cancer had excellent prognosis and pathologic response with current multimodality therapy including an individualized surgical treatment plan. Identification of a dMMR rectal cancer should trigger germline testing, followed by lifelong surveillance for both colorectal and extracolorectal malignancies. We herein provide genotype-specific outcome benchmarks for comparison with novel interventions.

Clinical characterization of DNA mismatch repair deficiency (MMR-D) in endometrial cancer (EC).

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1522-1522
Author(s):  
Karen Anne Cadoo ◽  
Christina Tran ◽  
Deborah DeLair ◽  
Angela G. Arnold ◽  
Asad Ashraf ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Mismatch Repair Deficiency ◽  
Dna Mismatch ◽  
Repair Deficiency ◽  
Dna Mismatch Repair Deficiency
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