Constitutional MisMatch Repair Deficiency (CMMRD) is caused by homozygous or compound heterozygous germline variants in one of the mismatch repair (MMR) genes (MSH2, MSH6, PMS2, MLH1). This syndrome results in early onset colorectal cancer, leukemia and lymphoma, brain tumors and other malignancies. Children with CMMRD are at high risk of developing multiple cancers and cancer surveillance does not guarantee detection of cancer at a curable stage. The development of a preventive treatment strategy would be a major step forward. Long-term daily use of acetylsalicylic acid (ASA) has been shown to reduce cancer risk in individuals with Lynch syndrome (LS). LS is caused by heterozygous germline variants of MSH2, MSH6, PMS2 and MLH1 and characterized by an increased risk of developing colorectal and endometrial cancer at adult age. Here we discuss the potential use of ASA for cancer prevention in patients with CMMRD.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138701 | PMC |
| http://dx.doi.org/10.1038/s41431-018-0197-0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
In eukaryotes, mismatch repair begins with M ut S h omolog (MSH) complexes, which scan newly replicated DNA for mismatches. Upon mismatch detection, MSH complexes recruit the PCNA- stimulated endonuclease Mlh1-Pms1/PMS2 (yeast/human), which nicks the DNA to allow downstream proteins to remove the mismatch. Past work has shown that although Mlh1-Pms1 is an ATPase and this activity is important , ATP is not required to nick DNA.
View Article and Find Full Text PDFDurable Complete Remission of Metastatic Gastric Cancer Following Platinum-Based Chemotherapy: A Case Report.
Cureus
December 2024
Oncology Department, Faculty of Medicine, Jagiellonian University Medical College, Cracow, POL.
Gastric cancer is a common type of gastrointestinal tract malignancy. It is characterized by a poor prognosis - median survival for metastatic disease is about 12 months. A small percentage of gastric cancer is characterized by high sensitivity to systemic treatment, resulting in deep and durable responses.
View Article and Find Full Text PDFDistinct Clinical Characteristics and Predictors of Sporadic Mismatch Repair-Deficient Colorectal Cancer.
Gastro Hep Adv
September 2024
Division of Research, Kaiser Permanente Northern California, Oakland, California.
Investigating POU3F4 in cancer: Expression patterns, prognostic implications, and functional roles in tumor immunity.
Heliyon
January 2025
Department of Cardiothoracic Surgery, Affiliated Hospital 6 of Nantong University, Yancheng Third People's Hospital, The Yancheng School of Clinical Medicine of Nanjing Medical University, Yancheng, 224002, China.
Research has demonstrated that POU3F4 is integral to various cancers, in addition to its significance in inner ear development, pancreatic differentiation, as well as neural stem cell differentiation. Nevertheless, comprehensive pan-cancer analyses focusing on POU3F4 remain limited. This study aims to assess the prognostic value of POU3F4 in thirty-three cancers and explore its immune-related functions.
View Article and Find Full Text PDFDifferential response to immunotherapy in different lesions of MSI-H double primary colorectal cancer: a case report and literature review.
AME Case Rep
November 2024
Hebei Key Laboratory of Cancer Radiotherapy and Chemotherapy, Department of Medical Oncology, Affiliated Hospital of Hebei University, Baoding, China.
Background: Mucinous adenocarcinoma is a rare type of colorectal cancer (CRC) associated with poor prognosis, particularly when it includes signet ring cell components. Furthermore, its rate of microsatellite instability-high (MSI-H) is significantly higher compared to non-mucinous adenocarcinoma. Immunotherapy has emerged as the standard treatment for MSI-H metastatic CRC (mCRC).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!