Hereditary Nonpolyposis Colorectal Cancer Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Risk-reduction surgery in pediatric surgical oncology: A perspective
A small percentage of pediatric solid cancers arise as a result of clearly identified inherited predisposition syndromes and nongenetic lesions. Evidence supports preemptive surgery for children with genetic [multiple endocrine neoplasia type 2 (MEN2), familial adenomatous polyposis syndrome (FAP), hereditary nonpolyposis colorectal cancer (HNPCC), and hereditary diffuse gastric cancer (HDGC) and nongenetic [thyroglossal duct cysts (TGDC), congenital pulmonary airway malformations (CPAM), alimentary tract duplication cysts (ATDC), and congenital choledochal cysts (CCC)] developmental anomalies. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - February 18, 2016 Category: Surgery Authors: John A. Sandoval, Israel Fernandez-Pineda, Alpin D. Malkan Tags: Review Article Source Type: research

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

The impact of hereditary colorectal cancer on the Indian population
Conclusion: The overall incidence of colorectal cancer is low in India. There is a tendency to affect a relatively younger age group, and we infer that the incidence of hereditary colorectal cancer is high and is similar to the Western countries. (Source: Indian Journal of Cancer)
Source: Indian Journal of Cancer - February 1, 2016 Category: Cancer & Oncology Authors: R MaharajPJ ShuklaSV SakpalV NaraynsinghD DanS Hariharan 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

Development of certain new 2-substituted-quinazolin-4-yl-aminobenzenesulfonamide as potential antitumor agents.
Abstract Carbonic anhydrases (CA I, II, IX and XII) are known to be highly expressed in various human malignancies. CA IX is overexpressed in colorectal cancer specifically in hereditary nonpolyposis colorectal cancer. Inhibition of CA activity by small molecular CA inhibitor like sulphonamides, sulphonamide derivative (SU.D2) or HIF1a inhibitor Chetomin leads to inhibition of tumorigenesis. Eighteen new quinazolin-4-sulfonamide derivatives were prepared and characterized by means of IR, NMR and mass spectra. Certain selected derivatives were tested for their ability to inhibit four isoforms of the metallo...
Source: European Journal of Medicinal Chemistry - January 6, 2016 Category: Chemistry Authors: Alafeefy AM, Ahmad R, Abdulla M, Eldehna WM, Al-Tamimi AS, Abdel-Aziz HA, Al-Obaid O, Carta F, Al-Kahtani AA, Supuran CT Tags: Eur J Med Chem Source Type: research

Chemoprevention of colorectal neoplasia
ConclusionsCurrently, there is not enough evidence to support the implementation of a chemopreventative agent for general use. However, there appears to be a role for aspirin in selected subgroups. (Source: ANZ Journal of Surgery)
Source: ANZ Journal of Surgery - December 21, 2015 Category: Surgery Authors: Chris Wakeman, Jacqueline Keenan, Jimmy Eteuati, Paul Hollington, Tim Eglinton, Frank Frizelle Tags: Original Article Source Type: research

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 tumo...
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 devel...
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 fer...
Source: DNA Repair - December 4, 2015 Category: Genetics & Stem Cells Authors: Lee K, Tosti E, Edelmann W Tags: DNA Repair (Amst) 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 Gyn...
Source: Journal of Medicine and Life - November 18, 2015 Category: Journals (General) Tags: J Med Life 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. ...
Source: Journal of Medicine and Life - November 18, 2015 Category: Journals (General) Tags: J Med Life Source Type: research

[Challenges for Urologists in the Care of Patients with Lynch Syndrome: Example of A Patient with Muir-Torre Syndrome, A Subtype of Lynch Syndrome].
We report on a patient with various types of LS-associated cancers and cancers without a known association with LS, who died from multifocal metastasis of urothelial cancer. This case report shows that close interdisciplinary cooperation is mandatory for the treatment of patients with complex diseases. PMID: 26509248 [PubMed - as supplied by publisher] (Source: Aktuelle Urologie)
Source: Aktuelle Urologie - October 28, 2015 Category: Urology & Nephrology Authors: Löhmann C, Kächele V, Martinschek A, Sparwasser C Tags: Aktuelle Urol Source Type: research

Detection of DNA repair protein in colorectal cancer of patients up to 50 years old can increase the identification of Lynch syndrome?
Abstract The aim of this study was to compare the results of protein level of the DNA mismatch repair genes with the clinical diagnosis of Lynch syndrome according to the Amsterdam II criteria in patients 50 years and younger who underwent surgery for colorectal cancer. The subjects of analysis were 48 patients 50 years old and younger. Immunohistochemistry assays were performed to detect proteins from the DNA mismatch repair genes. Clinicopathological data and Amsterdam II criteria for the diagnosis of hereditary nonpolyposis colorectal cancer were obtained by analyzing medical records. Two (4 %) pati...
Source: Tumor Biology - September 25, 2015 Category: Cancer & Oncology 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)
Source: Hereditary Cancer in Clinical Practice - August 21, 2015 Category: Cancer & Oncology Source Type: research