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Total 244 results found since Jan 2013.

Observational Study: Familial Relevance and Oncological Significance of Revised Bethesda Guidelines in Colorectal Patients That Have Undergone Curative Resection
Abstract: Amsterdam criteria for the hereditary nonpolyposis colorectal cancer (HNPCC) exclude most suspect cases of possible hereditary colorectal cancer (CRC). By contrast, revised Bethesda guidelines excessively broaden the disease spectrum. The aim of this study is to retrospectively evaluate the cliniciopathilogical characteristics of patients fulfilling the revised Bethesda guidelines and to review the efficacy and limitations of the revised guidelines. This retrospective study enrolled 3609 patients who underwent curative surgery for primary CRC. Patients were classified into the Bethesda group or the control group...
Source: Medicine - February 1, 2016 Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research

Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families
In conclusion, we have identified two LS families from the sporadic EC patients, one without a family history of cancer, supporting the notion for universal MMR screening of EC patients. In addition, we have detected three novel class 3 variants in EC cases. We have, in addition discovered a polygenic interaction which is the most likely cause of cancer development in a HNPCC patient that could explain previous inconsistent results reported on an intronic EXO1 variant. This study provides evidence that mutations in mismatch repair screening is highly relevant to endometrial cancer diagnostics and that polygenic interactio...
Source: Cancer Medicine - January 25, 2016 Category: Cancer & Oncology Authors: Bente A. Talseth‐Palmer, Denis C. Bauer, Wenche Sjursen, Tiffany J. Evans, Mary McPhillips, Anthony Proietto, Geoffrey Otton, Allan D. Spigelman, Rodney J. Scott Tags: Original Research Source Type: research

Lynch Syndrome or Hereditary Nonpolyposis...
Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) increases the risk of developing colon and other cancers.
Source: About.com Colon Cancer - January 20, 2016 Category: Cancer & Oncology Authors: coloncancer.guide at about.com Tags: health Source Type: news

Project for the National Program of Early Diagnosis of Endometrial Cancer Part II.
Discussion: Improving medical practice based on diagnostic algorithms and programs improves and increases the lifetime expectancy, due to the fact that endometrial cancer is early diagnosed and treated before it causes serious health problems or even death. Abbreviations: ASCCP = American Society for Colposcopy and Cervical Pathology, CT = Computerized Tomography, HNPCC = Hereditary Nonpolyposis Colorectal Cancer (Lynch syndrome), IHC = Immunohistochemistry, MSI = Microsatellites instability, MSI-H/ MSI-L = high (positive test)/ low (negative test) microsatellites instability, PCR = Polymerase chain reaction, MRI = Magneti...
Source: Journal of Medicine and Life - December 15, 2015 Category: Journals (General) Tags: J Med Life Source Type: research

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.
Abstract Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant Lynch syndrome, previously referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the childhood-onset autosomal recessive Constitutional Mismatch Repair Deficiency syndrome. Both conditions are important to recognize clinically as their identification has direct consequences for clinical management and allows targeted preventive actions in mutation carriers. Lynch syndrome is one of the more common adult-onset hereditary tumor syndro...
Source: DNA Repair - December 11, 2015 Category: Genetics & Stem Cells Authors: Sijmons RH, Hofstra RM Tags: DNA Repair (Amst) Source Type: research

Approaches to diagnose DNA mismatch repair gene defects in cancer.
Abstract The DNA repair pathway mismatch repair (MMR) is responsible for the recognition and correction of DNA biosynthetic errors caused by inaccurate nucleotide incorporation during replication. Faulty MMR leads to failure to address the mispairs or insertion deletion loops (IDLs) left behind by the replicative polymerases and results in increased mutation load at the genome. The realization that defective MMR leads to a hypermutation phenotype and increased risk of tumorigenesis highlights the relevance of this pathway for human disease. The association of MMR defects with increased risk of cancer development w...
Source: DNA Repair - December 8, 2015 Category: Genetics & Stem Cells Authors: Peña-Diaz J, Rasmussen LJ Tags: DNA Repair (Amst) Source Type: research

Mouse models of DNA mismatch repair in cancer research.
Abstract Germline mutations in DNA mismatch repair (MMR) genes are the cause of hereditary non-polyposis colorectal cancer/Lynch syndrome (HNPCC/LS) one of the most common cancer predisposition syndromes, and defects in MMR are also prevalent in sporadic colorectal cancers. In the past, the generation and analysis of mouse lines with knockout mutations in all of the known MMR genes has provided insight into how loss of individual MMR genes affects genome stability and contributes to cancer susceptibility. These studies also revealed essential functions for some of the MMR genes in B cell maturation and fertility. ...
Source: DNA Repair - December 4, 2015 Category: Genetics & Stem Cells Authors: Lee K, Tosti E, Edelmann W Tags: DNA Repair (Amst) Source Type: research

Predictive cytogenetic biomarkers for colorectal neoplasia in medium risk patients.
DISCUSSION: NDI score may have a role as a colorectal cancer-screening test in "medium risk" individuals. ABBREVIATIONS: DNA = deoxyribonucleic acid; CRC = colorectal cancer; EU = European Union; WHO = World Health Organization; FOBT = fecal occult blood test; CBMN = cytokinesis-blocked micronucleus assay; MN = micronuclei; NPB = nucleoplasmic bridges; NDI = Nuclear Division Index; FAP = familial adenomatous polyposis; HNPCC = hereditary non-polypoid colorectal cancer; IBD = inflammatory bowel diseases; ROC = receiver operating characteristics; AUROC = area under the receiver operating characteristics curve. PMID: ...
Source: Journal of Medicine and Life - November 18, 2015 Category: Journals (General) Tags: J Med Life Source Type: research

Project for the National Program of Early Diagnosis of Endometrial Cancer Part I.
DISCUSSION: Improving medical practice based on diagnostic algorithms addresses the four risk groups, by improving information system reporting and record keeping. Improving addressability cases by increasing the health education of the population will increase the rate of diagnosis of endometrial cancer in the early stages of the disease. ABBREVIATIONS: ACOG = American Society of Obstetricians and Gynecologists, ASCCP = American Society for Colposcopy and Cervical Pathology, PATT = Partial Activated Thromboplastin Time, BRCA = Breast Cancer Gene, CT = Computerized Tomography, IFGO = International Federation of Gynecol...
Source: Journal of Medicine and Life - November 18, 2015 Category: Journals (General) Tags: J Med Life Source Type: research

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Abstract Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (...
Source: World Journal of Gastroenterology : WJG - August 21, 2015 Category: Gastroenterology Authors: Carethers JM, Stoffel EM Tags: World J Gastroenterol Source Type: research

Next-generation sequencing for genetic testing of familial colorectal cancer syndromes
Conclusions The multiplex NGS approach has the advantage of analyzing multiple genes in multiple samples simultaneously, requiring only a reduced number of Sanger sequences to resolve homopolymeric DNA regions not adequately assessed by NGS. The implementation of NGS approaches in routine diagnostics of familial CRC is cost-effective and significantly reduces diagnostic turnaround times.
Source: Hereditary Cancer in Clinical Practice - August 21, 2015 Category: Cancer & Oncology Source Type: research

Aspirin lowers risk of hereditary bowel cancer in obese people
ConclusionThis study followed up on a previous trial that found taking aspirin regularly reduced the risk of bowel cancer in people with the genetic condition Lynch syndrome (or HNPCC), which puts them at an increased risk of developing the disease. The study found being obese appears to further increase bowel cancer risk among people with this condition.It also found that BMI did not appear to have an effect on bowel cancer risk among those taking aspirin. While this might indicate that aspirin removes the effect of BMI, ideally a comparison of aspirin versus placebo in the different BMI groups is needed to further assess...
Source: NHS News Feed - August 18, 2015 Category: Consumer Health News Tags: Cancer Obesity Source Type: news

Diffuse large B-cell lymphoma with microsatellite instability developing in the setting of Muir-Torre variant hereditary non-polyposis colon cancer
We report a patient with a Muir–Torre variant HNPCC who subsequently developed DLBCL. An elderly patient with a history of Muir–Torre variant HNPCC presented with abdominal pain, worsening over the preceding 1–2 months, with associated weight loss of 5 kg. The past medical history included metachronous rectal, colonic adenocarcinomas, pancreatic and jejunal...
Source: Journal of Clinical Pathology - August 18, 2015 Category: Pathology Authors: Cheah, C. Y., Dsouza, L., Taggart, M. W., Schlette, E. J., Turturro, F. Tags: PostScript Source Type: research

Abstract 2745: Exome sequencing analysis of 41 patients with Familial Colorectal Cancer Type X (FCCTX)
Colorectal cancer (CRC) is the second most common cancer. About 10% of CRC are hereditary including familial adenomatous polyposis (FAP), hereditary non-polyposis colorectal cancer (HNPCC), and rare syndromes. While genetics of FAP and rare syndromes is well studied (APC, STK11, AXIN2), only ∼40-50% of HNPCC have identifiable DNA mismatch-repair gene defects. CRC cases fulfilling Amsterdam Criteria I for HNPCC with normal DNA mismatch repair and elevated risk of microsatellite-stable CRC are called Familial Colorectal Cancer Type X (FCCTX). Compared to HNPCC, FCCTX patients are older, with left-sided CRC, and frequent po...
Source: Cancer Research - August 2, 2015 Category: Cancer & Oncology Authors: Melas, M., Luu, H. N., Rennert, G., Lejbkowicz, F., Gruber, S. B., Wiesner, G. L., Raskin, L. Tags: Epidemiology Source Type: research

Abstract 3847: MSI status frequency, MSI-target genes mutation profile and ancestry proportions in Brazilian colorectal carcinoma patients
Conclusion: The MSI frequencies identified in Brazilian CRC patients are in agreement with the international literature. We identify altered MSI-target genes in MSI-H tumors samples with potential clinical impact. For while, the ancestry proportions not showed an important factor for MSI status in Brazilian CRC patients.Note: This abstract was not presented at the meeting.Citation Format: Gustavo N. Berardinelli, Cristovam Scapulatempo-Neto, Ronilson Duraes, Denise Peixoto-Guimaraes, Armando Melani, Rui Pereira, Rui Reis. MSI status frequency, MSI-target genes mutation profile and ancestry proportions in Brazilian colorect...
Source: Cancer Research - August 2, 2015 Category: Cancer & Oncology Authors: Berardinelli, G. N., Scapulatempo-Neto, C., Duraes, R., Peixoto-Guimaraes, D., Melani, A., Pereira, R., Reis, R. Tags: Molecular and Cellular Biology Source Type: research