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Total 244 results found since Jan 2013.

Lynch Syndrome from a surgeon perspective: retrospective study of clinical impact of mismatch repair protein expression analysis in colorectal cancer patients less than 50 years old
Background: In clinical practice, unexpected diagnosis of colorectal cancer in young patients requires prompt surgery, thus genetic testing for Lynch Syndrome is frequently missed, and clinical management may result incorrect. Methods: Patients younger than 50 years old undergoing colorectal resection for cancer in the period 1994-2007 were identified (Group A, 49 cases), and compared to a group of randomly selected patients more than 50 (Group B, 85 cases). In 31 group A patients, immunohistochemical expression analysis of MLH1, MSH2 and MSH6 was performed; personal and familial history of patients with defective MMR prot...
Source: BMC Surgery - February 17, 2014 Category: Surgery Authors: Gian BaiocchiNazario PortolaniWilliam VermiCarla BaronchelliFederico GhezaClaudio ZognoAlessandro ScagliaEleonora MarchinaGuido TiberioStefano Giulini Source Type: research

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3671 families
Abstract Carriers of mismatch repair (MMR) gene mutations have a high lifetime risk for colorectal and endometrial cancers, as well as other malignancies. As mutation analysis to detect these patients is expensive and time‐consuming, clinical criteria and tumour‐tissue analysis are widely used as pre‐screening methods. The aim of our study was to evaluate the performance of commonly applied clinical criteria (the Amsterdam I and II Criteria, and the original and revised Bethesda Guidelines) and the results of tumour‐tissue analysis in predicting MMR gene mutations. We analyzed 3671 families from the German HNPCC Re...
Source: International Journal of Cancer - December 3, 2013 Category: Cancer & Oncology Authors: Verena Steinke, Stefanie Holzapfel, Markus Loeffler, Elke Holinski‐Feder, Monika Morak, Hans K. Schackert, Heike Görgens, Christian Pox, Brigitte Royer‐Pokora, Magnus Knebel‐Doeberitz, Reinhard Büttner, Peter Propping, Christoph Engel, Tags: Cancer Genetics Source Type: research

Prevalence of occult gynecologic malignancy at the time of risk reducing and nonprophylactic surgery in patients with Lynch syndrome.
CONCLUSIONS: Patients should be counseled about the risks of finding gynecologic cancer at the time of prophylactic or non-prophylactic surgery for Lynch syndrome and HNPCC, and the potential need for additional surgery. PMID: 24211399 [PubMed - as supplied by publisher]
Source: Gynecologic Oncology - November 5, 2013 Category: Cancer & Oncology Authors: Lachiewicz MP, Kravochuck SE, O'Malley MM, Heald B, Church JM, Kalady MF, Drake RD Tags: Gynecol Oncol Source Type: research

Dominant Mutations in S. cerevisiae PMS1 Identify the Mlh1-Pms1 Endonuclease Active Site and an Exonuclease 1-Independent Mismatch Repair Pathway
by Catherine E. Smith, Marc L. Mendillo, Nikki Bowen, Hans Hombauer, Christopher S. Campbell, Arshad Desai, Christopher D. Putnam, Richard D. Kolodner Lynch syndrome (hereditary nonpolypsis colorectal cancer or HNPCC) is a common cancer predisposition syndrome. Predisposition to cancer in this syndrome results from increased accumulation of mutations due to defective mismatch repair (MMR) caused by a mutation in one of the mismatch repair genes MLH1, MSH2, MSH6 or PMS2/scPMS1. To better understand the function of Mlh1-Pms1 in MMR, we used Saccharomyces cerevisiae to identify six pms1 mutations (pms1-G683E, pms1-C817R, pms...
Source: PLoS Genetics - October 31, 2013 Category: Genetics & Stem Cells Authors: Catherine E. Smith et al. Source Type: research

Circulating gastrin concentrations in patients at increased risk of developing colorectal carcinoma
ConclusionConcentrations of gastrin precursors are increased in particular groups with an increased risk of developing CRC.
Source: Journal of Gastroenterology and Hepatology - October 21, 2013 Category: Gastroenterology Authors: Adrienne C. Paterson, Finlay A. Macrae, Cathy Pizzey, Graham S. Baldwin, Arthur Shulkes Tags: Clinical Gastroenterology Source Type: research

Genes, Vol. 4, Pages 536-555: Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer
Hereditary non-polyposis colorectal cancer (HNPCC) is the commonest form of inherited colorectal cancer (CRC) predisposition and by definition describes families which conform to the Amsterdam Criteria or reiterations thereof. In ~50% of patients adhering to the Amsterdam criteria germline variants are identified in one of four DNA Mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Loss of function of any one of these genes results in a failure to repair DNA errors occurring during replication which can be most easily observed as DNA microsatellite instability (MSI)—a hallmark feature of this disease. The remaining 5...
Source: Genes - September 26, 2013 Category: Genetics & Stem Cells Authors: Amy MassonBente Talseth-PalmerTiffany-Jane EvansDesma GriceKonsta DuesingGarry HannanRodney Scott Tags: Article Source Type: research

Germline deletions in the EPCAM gene as a cause of Lynch syndrome -- literature review.
Abstract Lynch syndrome (clinically referred to as HNPCC -- Hereditary Non-Polyposis Colorectal Cancer) is a frequent, autosomal, dominantly-inherited cancer predisposition syndrome caused by various germline alterations that affect DNA mismatch repair genes, mainly MLH1 and MSH2. Patients inheriting this predisposition are susceptible to colorectal, endometrial and other extracolonic tumors. It has recently been shown that germline deletions of the last few exons of the EPCAM gene are involved in the etiology of Lynch syndrome. Such constitutional mutations lead to subsequent epigenetic silencing of a neighbourin...
Source: Clinical Colorectal Cancer - August 12, 2013 Category: Cancer & Oncology Authors: Tutlewska K, Lubinski J, Kurzawski G Tags: Hered Cancer Clin Pract Source Type: research

Survival of patients with Stage III colon cancer is improved in hereditary non‐polyposis colorectal cancer compared with sporadic cases. A Danish registry based study
ConclusionHNPCC patients with Stage III CC have a better OS compared with sporadic CC. No significant difference in OS was found within HNPCC subgroups.
Source: Colorectal Disease - July 30, 2013 Category: Gastroenterology Authors: L. M. Brixen, I. T. Bernstein, S. Bülow, E. Ehrnrooth Tags: Original Article Source Type: research

What is Lynch Syndrome or Hereditary Nonpolypos...
Lynch syndrome, also called hereditary nonpolyposis colorectal cancer or HNPCC, is a genetic condition that increases the risk of colon and other cancers.
Source: About.com Colon Cancer - June 23, 2013 Category: Cancer & Oncology Authors: coloncancer.guide at about.com Tags: health Source Type: news

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate important clinical questions...
Source: Gut - April 30, 2013 Category: Gastroenterology Authors: Vasen, H. F. A., Blanco, I., Aktan-Collan, K., Gopie, J. P., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I. M., Genuardi, M., Heinimann, K., Hes, F. J., Hodgson, S. V., Karagiannis, J. A., Lal Tags: Open access, Editor's choice, Colon cancer Guidelines Source Type: research

Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients
Background: Hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome (LS) is a cancer syndrome characterised by early-onset epithelial cancers, especially colorectal cancer (CRC) and endometrial cancer. The aim of the current study was to use SNP-array technology to identify genomic aberrations which could contribute to the increased risk of cancer in HNPCC/LS patients. Methods: Individuals diagnosed with HNPCC/LS (100) and healthy controls (384) were genotyped using the Illumina Human610-Quad SNP-arrays. Copy number variation (CNV) calling and association analyses were performed using Nexus software, with signifi...
Source: BMC Medical Genomics - March 26, 2013 Category: Genetics & Stem Cells Authors: Bente Talseth-PalmerElizabeth HollidayTiffany-Jane EvansMark McEvoyJohn AttiaDesma GriceAmy MassonCliff MeldrumAllan SpigelmanRodney Scott Source Type: research

Lynch syndrome related endometrial cancer: clinical significance beyond the endometrium
Lynch syndrome (LS), an autosomal dominant inherited cancer susceptibility syndrome, also known as hereditary non-polyposis colon cancer (HNPCC), is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes. LS is the most common presentation of hereditary colorectal cancer (CRC), accounting for about 2–5% of all CRC cases. More recently, it is found that a similar number of endometrial cancers is also due to one of the MMR gene mutations. There has been significant progress in LS-related CRC in terms of molecular pathogenesis, risks, genetic basis, and cancer prevention. In contrast, the advance ab...
Source: Journal of Hematology and Oncology - March 25, 2013 Category: Hematology Authors: Yiying WangYue WangJie LiJaniel CragunKenneth HatchSetsuko ChambersWenxin Zheng Source Type: research

Molecular aspects of upper tract urothelial carcinoma
Conclusion: Advances in our understanding of the biology of UTUC is may in the future help to identify novel druggable targets, clinically applicable biomarkers and guide treatment of the rare but lethal condition.
Source: Urologic Oncology: Seminars and Original Investigations - February 21, 2013 Category: Urology & Nephrology Authors: Nilay Patel, Manit Arya, Asif Muneer, Tom Powles, Mark Sullivan, John Hines, John Kelly Tags: Abstracts for Online Original Articles and Reviews Source Type: research

Identification of chromosomal copy number variations and novel candidate loci in hereditary nonpolyposis colorectal cancer with mismatch repair proficiency.
Abstract The pathogenesis of microsatellite stable hereditary non-polyposis colorectal cancers (MSS HNPCC) is unclear. To identify genomic regions that might be involved in MSS HNPCC pathogenesis, we selected 20 pairs of MSS HNPCC for a genome-wide study using copy number variation targeted (CNV-targeted) CytoScan HD Array. A remarkably increased frequency of 20q gain (70%) and high levels of copy-neutral loss of heterozygosity (40%) were observed. The most frequent tumor-specific CNVs included amplifications (7p21.3-15.1, 8q13.3-24.3, 13q14.1-33.3 and 20q12-13.33) and deletions (8p11.23-23.1, 15q11.2-26.1, 17p13....
Source: Genomics - February 20, 2013 Category: Genetics & Stem Cells Authors: Chen W, Yuan L, Cai Y, Chen X, Chi Y, Wei P, Zhou X, Shi D Tags: Genomics Source Type: research

International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
Conclusions Screening is recommended for high-risk individuals, but more evidence is needed, particularly for how to manage patients with detected lesions. Screening and subsequent management should take place at high-volume centres with multidisciplinary teams, preferably within research protocols.
Source: Gut - January 31, 2013 Category: Gastroenterology Authors: Canto, M. I., Harinck, F., Hruban, R. H., Offerhaus, G. J., Poley, J.-W., Kamel, I., Nio, Y., Schulick, R. S., Bassi, C., Kluijt, I., Levy, M. J., Chak, A., Fockens, P., Goggins, M., Bruno, M., on behalf of the International Cancer of the Pancreas Screeni Tags: Pancreas and biliary tract, Open access, Colon cancer, Pancreatic cancer, Intestinal cancer Guidelines Source Type: research