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Total 244 results found since Jan 2013.

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 - 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 including...
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 compared ...
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 - 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 - 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 - 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 - 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

A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing.
Abstract Inheritable Colorectal cancers (CRC) accounted for about 20% of the CRC cases, such as hereditary nonpolyposis colorectal cancer (HNPCC), Gardner syndrome and familial adenomatous polyposis (FAP). A four-generation Han Chinese family was found affected with polyposis in colons. Inferred form the pedigree structure, the disease in this family showed an autosomal dominant inheritance model. To locate the causal mutations in this family, genomic DNAs were extracted and the next generation sequencing for 5 genes relating to colon cancer performed by Ion Torrent Personal Genome Machine with a 314 chip. The rea...
Source: Biochemical and Biophysical Research communications - April 12, 2014 Category: Biochemistry Authors: Zhang Y, Lu G, Hu Q, Wang X, Li C, Mao Y, Cui M Tags: Biochem Biophys Res Commun Source Type: research

Determining eligibility for and preparation to kidney transplantation of a patient with Lynch syndrome - a case report and literature review.
Conclusions: The risk of recurrence or new development of cancer related to immunosuppressive treatment should be considered on a case-by-case basis. In patients with a history or high risk of cancer, immunosuppression protocols based on the m-TOR pathway inhibitors should be used, if possible. Oncological surveillance and early detection of new cancer lesions are also important. PMID: 24614524 [PubMed - in process]
Source: Annals of Transplantation - March 16, 2014 Category: Transplant Surgery Authors: Gozdowska J, Bieniasz M, Wszoła M, Kieszek R, Domagała P, Drozdowski J, Tomaszek A, Kwiatkowski A, Chmura A, Durlik M Tags: Ann Transplant Source Type: research

The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer.
CONCLUSION: Based on 19,334 women years of EC-surveillance, our analysis provides a thorough estimation of the EC risk in women with an MMR mutation, or suspected of having Lynch syndrome. We conclude that EC surveillance should only be targeted to MMR-mutation carriers. PMID: 24631699 [PubMed - as supplied by publisher]
Source: Gynecologic Oncology - March 13, 2014 Category: Cancer & Oncology Authors: Ketabi Z, Gerdes AM, Mosgaard B, Ladelund S, Bernstein I Tags: Gynecol Oncol Source Type: research

Should we systematically Screen for Lynch syndrome in Patients with upper urinary tract carcinoma?
Abstract The data describing the urologic extracolonic cancers associated with Lynch syndrome (hereditary non-polyposis colorectal cancer [HNPCC]) are variable. The aim of our study was to establish the frequency of mutations in mismatch repair (MMR) genes in patients with upper urinary tract transitional cell carcinoma (UUT-TCC) and to evaluate the clinical benefits of a systematic screening. Specimen blocks were obtained from 146 patients treated for UUT-TCC in our center. Clinicopathological characteristics and survival data of patients were collected (median follow-up = 42.5 months). Immunohistochemistry w...
Source: Bulletin du Cancer - February 21, 2014 Category: Cancer & Oncology Authors: Olagui GS, Pignot G, Rouquette A, Vieillefond A, Amsellem-Ouazana D, Longchamps NB, Radenen B, Zerbib M, Terris B Tags: Bull Cancer Source Type: research