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.

MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.
Authors: Clark N, Wu X, Her C Abstract The prominence of the human mismatch repair (MMR) pathway is clearly reflected by the causal link between MMR gene mutations and the occurrence of Lynch syndrome (or HNPCC). The MMR family of proteins also carries out a plethora of diverse cellular functions beyond its primary role in MMR and homologous recombination. In fact, members of the MMR family of proteins are being increasingly recognized as critical mediators between DNA damage repair and cell survival. Thus, a better functional understanding of MMR proteins will undoubtedly aid the development of strategies...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

The Incidence of Hereditary Gastric Cancer in Korean
CONCLUSION: In the present study, the incidences of HGC were remarkably altered in accordance with study methods. Retrospective reviews of medical records revealed to be ineffective for this kind of study since their informations were often incomplete and some suspected patients were lost during follow-up. According to the Minimal Criteria of ICG-HGC, the incidence of true and suspected HGC was 3.1% (6 probands) and 11.3% (22 probands), respectively, out of 195 gastric cancer patients. We propose that families who meet the Minimal Criteria of ICG-HGC should be prospectively found in order to determine the exact incidence o...
Source: Cancer Research and Treatment - November 14, 2014 Category: Cancer & Oncology Tags: Original Article Source Type: research

Abstract A27: BLM overexpression promotes tumorigenicity in an azoxymethane/dextran sulfate (AOM/DSS) murine model of intestinal cancer
The role of genomic instability in colorectal cancer susceptibility is well established by studies of hereditary non-polyposis colon cancer (HNPCC), its associated disruption of DNA mismatch repair, and other DNA repair deficiencies that predispose to colon cancer. DNA repair deficiency that results in loss of capacity to maintain the genome leads to increased mutation or chromosome instability that in turn increases tumor formation. In some recent experiments using mouse models of cancer, deletion of genomic housekeeping genes promoted tumorigenesis. The Blm gene encodes a RecQ helicase that represses aberrant homologous ...
Source: Molecular Cancer Research - November 13, 2014 Category: Cancer & Oncology Authors: Ebede, K., McIlhatton, M., Hankey, W., Groden, J. Tags: Target Discovery and Validation: Poster Presentations - Proffered Abstracts Source Type: research

DNA repair genes and prognosis in sporadic forms of urothelial carcinoma of the upper urinary tract
Conclusion In our experience, the inactivation of hPMS2 or hMLH1 is an independent marker of good prognosis and occurs in a quarter of sporadic UTUC cases. The immunohistochemical study of these patients can be used to assess the screening of hidden forms of Lynch syndrome. (Source: Actas Urologicas Espanolas)
Source: Actas Urologicas Espanolas - October 22, 2014 Category: Urology & Nephrology Source Type: research

Low Frequency of HNPCC-Associated Microsatellite Instability and Aberrant MMR Protein Expression in Early-Onset Bladder Cancer.
CONCLUSIONS: In young patients with bladder tumors, MSI and defects in MMR protein expression were not more frequent than in a series of consecutive bladder tumors. Most bladder tumors in young patients are not to be attributed to Lynch syndrome. PMID: 25319978 [PubMed - in process] (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - October 21, 2014 Category: Pathology Authors: Giedl J, Schneckenpointner R, Filbeck T, Ruemmele P, Hofstaedter F, Burger M, Hartmann A, Stoehr R Tags: Am J Clin Pathol Source Type: research

P1-11-1 * IMPORTANCE TO CLARIFY GERMLINE hMLH1 K618A MISSENSE MUTATION FOR CLINICAL SURVEILLANCE AND GENETIC COUNSELING
Colorectal cancer (CRC) is the third common cancer and the fourth leading cause of cancer death worldwide. Subproportion CRC with defect function in one of the mismatch repair gene (MMR) are classed as inherited non-polyposis colorectal cancer (HNPCC) later called Lynch syndrome (LS). Disease causing germline mutations have so far been identified in five MMR genes. Among other MMR genes, germline mutations in hMLH1 account up to 50% LS patients and lead to increased risk of cancer development. hMLH1 K618A variant was first identified in our lab and was considered as a disease causing pathogenic alteration, our further inve...
Source: Annals of Oncology - October 19, 2014 Category: Cancer & Oncology Authors: Liu, T., Lindblom, A. Tags: Poster Session (Poster presentations categorized by each organ) Source Type: research

Abstract 1910: Evolution of preleukemia stem cells to lymphoma initiating cells requires thymus in msh2-/- mice
In this study, we use MSH2-/- mice as a model to investigate the existence of PLSC and the evolution of PLSC to LIC. Using bone marrow transplantation, we found that limiting dilutions of MSH2-/- HSCs from young mice are able to reconstitute lethally irradiated wild-type recipients, and contribute to development of multiple hematopoietic lineages. However, all the recipients develop thymic lymphomas after a latency of 3-4 months post transplantation. Transplantation of different fractions of bone marrow cells or thymocytes from young MSH2-/- mice showed that only the HSC enriched fraction leads to lymphoma development. The...
Source: Cancer Research - September 30, 2014 Category: Cancer & Oncology Authors: Qing, Y., Gerson, S. L. Tags: Tumor Biology Source Type: research

Statement on risk assessment for inherited gynecologic cancer predispositions.
Abstract Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with Hereditary Breast & Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk of ovarian, tubal, and peritoneal cancers. Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, have up to a 40-60% lifetime risk of both endometrial and colorectal cancers as well as a 9-12% lifetime risk of ovarian cancer. Mutations in other genes i...
Source: Gynecologic Oncology - September 17, 2014 Category: Cancer & Oncology Authors: Lancaster JM, Powell CB, Chen LM, Richardson DL, SGO Clinical Practice Committee Tags: Gynecol Oncol Source Type: research

Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)
Abstract The aim of this study was to investigate the clinical value of different criteria and to understand the relationship between genotype and phenotype in Chinese hereditary nonpolyposis colorectal cancer (HNPCC). A total of 116 unrelated probands of suspected HNPCC families from the Fudan Colorectal Registry were studied. A total of 32, 28, and 56 families fulfilled the Amsterdam criteria, the Fudan criteria and the revised Bethesda guideline, respectively. Direct DNA sequencing of all exons of hMSH2 and hMLH1 genes were performed on all 116 samples. Mutations and clinicopathological features were...
Source: Medical Oncology - September 13, 2014 Category: Cancer & Oncology Source Type: research

Familial Pancreatic Cancer: Challenging Diagnostic Approach and Therapeutic Management
Conclusions However, the optimal age of initial screening remains undefined. Furthermore, a multidisciplinary assessment is required to determine whether surgical interventions should be performed at high-volume specialty centers. The aim of this study is to collect all the recent information considering the genetic basis, screening protocols, and treatment of FPC in order to provide an update on the current contemporary concepts of therapeutic management of the disease. (Source: International Journal of Gastrointestinal Cancer)
Source: International Journal of Gastrointestinal Cancer - September 1, 2014 Category: Cancer & Oncology Source Type: research

Colonoscopy screening compliance and outcomes in patients with Lynch Syndrome
ConclusionOverall 68% of colonoscopies were on time. The incidence of colorectal cancer was greatly reduced by screening but remained significant. Lynch syndrome patients need pro‐active surveillance management.This article is protected by copyright. All rights reserved. (Source: Colorectal Disease)
Source: Colorectal Disease - September 1, 2014 Category: Gastroenterology Authors: K Newton, K Green, F Lalloo, DG Evans, J Hill Tags: Original Article Source Type: research

Covering the Cover
Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of inherited colon cancer susceptibility. In most cases, it is characterized by mutations in the DNA mismatched repair genes, MSH2, MLH1, PMS1, MSH6, or MLH3. The Amsterdam criteria is a clinical guideline used to identify HNPCC in kindreds, and includes ≥3 relatives (one of whom is a first-degree relative and for whom familial adenomatous polyposis has been ruled out), HNPCC involving ≥2 generations, and ≥1 cancer that was diagnosed before the age of 50. (Source: Gastroenterology)
Source: Gastroenterology - August 21, 2014 Category: Gastroenterology Authors: Anson W. Lowe, Richard H. Moseley Tags: Covering the Cover Source Type: research

Defining HNPCC and Lynch syndrome: what's in a name?
Dear Sir, In June 2013, the Mallorca Group published revised guidelines for the clinical management of Lynch syndrome.1 In the title, HNPCC (Hereditary NonPolyposis Colorectal Cancer) is equated with Lynch syndrome, continuing a misuse of terms that has fuelled confusion for many years. The two terms describe different, although overlapping, diseases: the distinction is critical to an accurate understanding of hereditary colorectal cancer. HNPCC is defined clinically, usually as families satisfying Amsterdam I or II criteria.2 Lynch syndrome is defined genetically, by the presence of a germline mutation in DNA mismatch rep...
Source: Gut - August 3, 2014 Category: Gastroenterology Authors: Kravochuck, S. E., Kalady, M. F., Burke, C. A., Heald, B., Church, J. M. Tags: PostScript Source Type: research

A very low incidence of BRAF mutations in Middle Eastern colorectal carcinoma
Conclusion: Our results highlight the low incidence of BRAF mutations and CIMP in CRC from Saudi Arabia. This could be attributed to ethnic differences and warrant further investigation to elucidate the effect of other environmental and genetic factors. These findings indirectly suggest the possibility of a higher incidence of familial hereditary colorectal cancers especially Hereditary non polyposis colorectal cancer (HNPCC) syndrome /Lynch Syndrome (LS) in Saudi Arabia. (Source: Molecular Cancer)
Source: Molecular Cancer - July 8, 2014 Category: Cancer & Oncology Authors: Abdul SirajRong BuSarita PrabhakaranPrashant BaviShaham BegMohsen Al HazmiMaha Al-RasheedKhadija AlobaisiFouad Al-DayelHadeel AlManeaNasser Al-SaneaShahab UddinKhawla Al-Kuraya Source Type: research