Stephen N. Thibodeau
A5090473173- Genetic factors in colorectal cancer
- Colorectal Cancer Screening and Detection
- Cancer Genomics and Diagnostics
- Colorectal Cancer Treatments and Studies
- Genetic Associations and Epidemiology
- Prostate Cancer Treatment and Research
- Prostate Cancer Diagnosis and Treatment
- Cancer-related molecular mechanisms research
- BRCA gene mutations in cancer
- Nutritional Studies and Diet
- Nutrition, Genetics, and Disease
- Molecular Biology Techniques and Applications
- Genetics and Neurodevelopmental Disorders
- Cancer, Lipids, and Metabolism
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Multiple and Secondary Primary Cancers
- RNA Research and Splicing
- MicroRNA in disease regulation
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Digestive system and related health
- Colorectal and Anal Carcinomas
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Mayo Clinic in Arizona
2016-2025
Mayo Clinic
2015-2024
Rambam Health Care Campus
2023
Istituti di Ricovero e Cura a Carattere Scientifico
2023
Vita-Salute San Raffaele University
2023
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2023
University of Tolima
2023
University of Milano-Bicocca
2023
WinnMed
2005-2021
Harvard University
2009-2021
Colon cancers with high-frequency microsatellite instability have clinical and pathological features that distinguish them from microsatellite-stable tumors. We investigated the usefulness of microsatellite-instability status as a predictor benefit adjuvant chemotherapy fluorouracil in stage II III colon cancer.
Prior reports have indicated that patients with colon cancer who demonstrate high-level microsatellite instability (MSI-H) or defective DNA mismatch repair (dMMR) improved survival and receive no benefit from fluorouracil (FU) -based adjuvant therapy compared microsatellite-stable proficient (pMMR) tumors. We examined MMR status as a predictor of in stages II III cancer.MSI assay immunohistochemistry for proteins were performed on 457 previously randomly assigned to FU-based (either FU +...
Variants of the apolipoprotein E allele appear to account for most cases late-onset Alzheimer's disease, and persons with two copies epsilon 4 have an especially high risk dementia. Positron-emission tomography (PET) has identified specific regions brain in which rate glucose metabolism declines progressively patients probable disease. We used PET investigate whether these same are affected subjects homozygous before onset cognitive impairment.Apolipoprotein genotypes were established 235...
Abstract Background Exosomes, endosome-derived membrane microvesicles, contain specific RNA transcripts that are thought to be involved in cell-cell communication. These have great potential as disease biomarkers. To characterize exosomal profiles systemically, we performed sequencing analysis using three human plasma samples and evaluated the efficacies of small library preparation protocols from manufacturers. In all 14 libraries (7 replicates). Results From size-selected libraries,...
PURPOSE: To compare microsatellite instability (MSI) testing with immunohistochemical (IHC) detection of hMLH1 and hMSH2 in colorectal cancer. PATIENTS AND METHODS: Colorectal cancers from 1,144 patients were assessed for DNA mismatch repair deficiency by two methods: MSI IHC gene products. High-frequency (MSI-H) was defined as more than 30% at least five markers; low-level (MSI-L) 1% to 29% loci unstable. RESULTS: Of tumors tested, 818 showed intact expression hMSH2. these, 680 stable...
To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in cardiac gene ( ACTC ). Missense cosegregate IDC identified two unrelated families. Both affect universally conserved amino acids domains of attach Z bands and intercalated discs. Coupled previous data showing dystrophin also cause cardiomyopathy, these results raise possibility defective transmission force myocytes is a...
The functional roles of SNPs within the 8q24 gene desert in cancer phenotype are not yet well understood. Here, we report that CCAT2 , a novel long noncoding RNA transcript (lncRNA) encompassing rs6983267 SNP, is highly overexpressed microsatellite-stable colorectal and promotes tumor growth, metastasis, chromosomal instability. We demonstrate MYC miR–17–5p, miR–20a up-regulated by through TCF7L2-mediated transcriptional regulation. further identify physical interaction between TCF7L2...
To compare microsatellite instability (MSI) testing with immunohistochemical (IHC) detection of hMLH1 and hMSH2 in colorectal cancer.Colorectal cancers from 1,144 patients were assessed for DNA mismatch repair deficiency by two methods: MSI IHC gene products. High-frequency (MSI-H) was defined as more than 30% at least five markers; low-level (MSI-L) 1% to 29% loci unstable.Of tumors tested, 818 showed intact expression hMSH2. Of these, 680 stable (MSS), 27 MSI-H, 111 MSI-L. In all, 228...
Approximately 60% of families that meet the Amsterdam-I criteria (AC-I) for hereditary nonpolyposis colorectal cancer (HNPCC) have a abnormality in DNA mismatch repair (MMR) gene. Cancer incidence AC-I with MMR gene mutations is reported to be very high, but individuals no evidence an defect unknown.To determine if risks apparent deficiency are different from abnormalities.Identification (1997-2001) 161 pedigrees multiple population- and clinic-based sources North America Germany, grouped...
OLORECTAL CANCER (CRC) is the third most common cancer worldwide and second leading cause of cancer-related death. 1 Lynch syndrome, also known as hereditary nonpolyposis colorectal (HNPCC), form CRC, accounting for 1% to 3% all these tumors.It an autosomaldominant disorder caused by germline mutations in DNA mismatch repair (MMR) genes (ie, MSH2, MLH1, MSH6, PMS2).
Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome result in different but imprecisely known cancer risks. This study aimed to provide age organ-specific risks according gene gender determine survival after cancer.We conducted an international, multicenter prospective observational using independent test validation cohorts of carriers class 4 or 5 variants. After the were merged providing 6350 participants 51,646 follow-up years.There 1808 prospectively observed...
Approximately 15% of colorectal cancers develop because defective function the DNA mismatch repair (MMR) system. We determined association MMR status with colon cancer recurrence and examined impact 5-fluorouracil (FU)-based adjuvant therapy on variables. included stage II III carcinoma patients (n = 2141) who were treated in randomized trials 5-FU-based therapy. Tumors analyzed for microsatellite instability by polymerase chain reaction and/or protein expression immunohistochemistry to...
<h3>Context</h3>Leucovorin, fluorouracil, and oxaliplatin (FOLFOX) is the standard adjuvant therapy for resected stage III colon cancer. Adding cetuximab to FOLFOX benefits patients with metastatic wild-type KRAS but not mutated cancer.<h3>Objective</h3>To assess potential benefit of added modified sixth version regimen (mFOLFOX6) in cancer.<h3>Design, Setting, Participants</h3>A randomized trial 2686 aged 18 years or older at multiple institutions across North America enrolled following...