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Total 244 results found since Jan 2013.

Hereditary Non-polyposis Colorectal Cancer: Prevention and Therapeutic Options
Abstract Lynch syndrome (LS), also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common hereditary colorectal cancer (CRC) syndrome. The first and foremost preventive measure is to identify patients with LS among CRC patients. This requires the screening of colorectal cancer through polymerase chain reaction-based microsatellite instability (MSI) testing or immunohistochemistry to look for a loss of expression of one of the mismatch repair (MMR) proteins and the referral of selected patients to genetic counseling. In LS patients, annual or biannual complete colonoscopy with chromoendosco...
Source: Current Colorectal Cancer Reports - March 19, 2015 Category: Cancer & Oncology Source Type: research

Resources to increase genetics and genomics capacity of oncology nurses.
Abstract Since the completion of the Human Genome Project (HGP) in 2003, the understanding of genetics and its influence on disease, particularly cancer, has increased dramatically. The initial focus after the completion of HGP was on identifying single-gene disorders, such as many hereditary cancer syndromes (e.g., BRCA1, BRCA2, HNPCC). As research continues, the major impact that genetics and genomics have across the healthcare continuum is only beginning to become clear (Pestka, Burbank, & Junglen, 2010; Thompson & Brooks, 2011). More specifically, genetics and genomics play a role in disease risk and p...
Source: Oncology Nursing Forum - March 1, 2015 Category: Nursing Authors: Aiello LB Tags: Oncol Nurs Forum Source Type: research

HNPCC-Associated Pheochromocytoma: Expanding the Tumor Spectrum
No abstract available
Source: Pancreas - April 17, 2015 Category: Gastroenterology Tags: Letters to the Editor Source Type: research

Survival in familial colorectal cancer: a Danish cohort study
Abstract The monogenic Lynch syndrome (LS) is associated with better survival in colorectal cancer (CRC) patients. Whether family history of CRC affects CRC prognosis in general remains unclear. We evaluated overall mortality in a Danish cohort of CRC patients comparing patients with a family history (FHpos) to those without (FHneg) with focus on patients from non-syndromic families, thus FHpos patients were further divided into a non-syndromic group (FHNS) and a HNPCC/LS group (FHHNPCC). We included CRC patients diagnosed 1995–1998. First degree relatives were identified using Danish population registries and f...
Source: Familial Cancer - May 11, 2015 Category: Cancer & Oncology Source Type: research

Epigenetics could explain some Moroccan population colorectal cancers peculiarities: microsatellite instability pathway exploration
Conclusions: These results confirm the high occurrence of CRCs to young patients and the high frequency of rectal localizations in Moroccan population. They mostly show an absence of BRAF mutation, supposing a rarity of MLH1 promoter hypermethylation pathway, which may even partially explain the CRC peculiarities in our context.Virtual SlidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5868184711716884
Source: Diagnostic Pathology - June 24, 2015 Category: Pathology Authors: Mohammed SekalHassania AmeurtesseLaila ChbaniKarim OuldimSanae BennisMohammed AbkariAmal BoulouzDafr BenajahBasher BenjellounAbdelmalek OusaddenKhalid Ait TalebSaid Ait LaalimImane ToghraiKhalid MazazSamia ArifiNawfel MellasKarima El RhaziTaoufiq Harmouch Source Type: research

Muir-Torre Syndrome and founder Mismatch Repair genes mutations: A long gone historical genetic challenge.
Abstract A "cancer predisposing syndrome" later labeled as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, was firstly described by Warthin, about one century ago. An increased predisposition to the development of multiple familial tumors is described as characteristic of this syndrome where visceral and cutaneous malignancies may appear at an early age namely endometrial, gastric, small bowel, ureteral and renal pelvis, ovarian, hepatobiliary tract, pancreatic, brain (Turcot Syndrome) and sebaceous glands (Muir-Torre Syndrome). The latter, a variant of Lynch Syndrome, is characterized by the...
Source: Gene - July 1, 2015 Category: Genetics & Stem Cells Authors: Ponti G, Manfredini M, Tomasi A, Pellacani G Tags: Gene Source Type: research

Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study
Conclusion Although the overall risk in FDRs of CRC patients in our study was comparable with the results of previous studies, the risk in families with multiple relatives with CRC or one CRC patient diagnosed young may be lower than reported previously.
Source: Cancer Epidemiology - July 27, 2015 Category: Cancer & Oncology 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

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

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

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

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

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