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A Novel HMSH2 Gene Mutation In Colorectal Cancer Patients?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article will undoubtedly bring comfort to many families.The article describes how five independent Chinese kindreds of HNPCC fulfilled the classical Amsterdam Criteria, as collected by Prof.
Source: Genetics News From Medical News Today - February 25, 2008 Category: Stem Cells Source Type: news

Survival of hereditary non-polyposis colorectal cancer patients compared with sporadic colorectal cancer patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: Patients with hereditary non-poliposys colorectal cancer (HNPCC) have better prognosis than sporadic colorectal cancer (CRC). Aim of our retrospective study was to compare the overall survival between sporadic CRC and HNPCC patients. Methods: We analyzed a cohort of 40 (25 females and 15 males) HNPCC cases with a hospital series comprising 573 (312 and 261 respectively) sporadic CRC observed during the period 1970-1993. In fifteen HNPCC patients we performed mutational analysis for microsatellite instability. Survival rates were calculated by Kaplan-Meier method and compared with log rank test. Results: The mea...
Source: BioMed Central - September 19, 2008 Category: Journals (General) Authors: Vittoria Stigliano, Daniela Assisi, Maurizio Cosimelli, Raffaele Palmirotta, Diana Giannarelli, Marcella Mottolese, Lupe Sanchez Mete, Raffaello Mancini and Vincenzo Casale Source Type: journals

HNPCCEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 - September 8, 2009 Category: Cancer & Oncology Authors: coloncancer.guide at about.com Tags: health Source Type: consumer

Genetic Epidemiology Studies in Hereditary Non-Polyposis Colorectal CancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Genetic epidemiology studies in hereditary non-polyposis colorectal cancer (HNPCC) have the potential to radically improve assessment of disease risk such that more individualised information can be provided to patients susceptible to developing disease. Studies of HNPCC initially focused on disease associations and the definition of the disease and its association with different cancers within the context of an inherited predisposition. With the identification of the genetic basis of HNPCC, new insights into the disease have been forthcoming and many advances in our understanding have been made. There have been many repor...
Source: Springer protocols feed by Cancer Research - September 12, 2008 Category: Cancer & Oncology Source Type: info

The hMSH2 and hMLH1 Genes in Hereditary Nonpolyposis Colorectal CancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article reviews the history of HNPCC, its clinical features, gene discovery, development of clinical genetic workup, and clinical surveillance, with an emphasis on the two major HNPCC genes, hMSH2 and hMLH1. It is not always possible to discuss these specific genes without commenting on the broader problem of HNPCC diagnosis and management.
Source: Surgical Oncology Clinics of North America - September 29, 2009 Category: Surgery Authors: Patrick M. Lynch Source Type: journals

Modifier Genes and HNPCC: Variable phenotypic expression in HNPCC and the search for modifier genesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
European Journal of Human Genetics advance online publication, February 27, 2008. doi:10.1038/ejhg.2008.46 Author: Rodney J Scott
Source: European Journal of Human Genetics - February 27, 2008 Category: Stem Cells Authors: Rodney J Scott Source Type: journals

Hereditary nonpolyposis colorectal cancer in endometrial cancer patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Endometrial cancer is the second most common cancer in hereditary nonpolyposis colorectal cancer (HNPCC). It has often been overlooked to explore the possibility of HNPCC in endometrial cancer patients. Our study was to investigate how many HNPCC patients existed among endometrial cancer patients. Among patients who underwent hysterectomy for endometrial cancer at Seoul National University Hospital from 1996 to 2004, 113 patients were included, whose family history and clinical data could be obtained and tumor specimens were available for microsatellite instability (MSI) testing and immunohistochemical (IHC) staining of ML...
Source: International Journal of Cancer - October 31, 2007 Category: Cancer & Oncology Authors: Sang Nam Yoon, Ja-Lok Ku, Young-Kyoung Shin, Kyung-Hee Kim, Jin-Sung Choi, Eun-Ja Jang, Hyoung-Chul Park, Duck-Woo Kim, Min A. Kim, Woo Ho Kim, Taek Sang Lee, Jae Weon Kim, Noh-Hyun Park, Yong-Sang Song, Soon-Beom Kang, Hyo-Pyo Lee, Seung-Yong Jeong, Jae- Source Type: journals

Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Recently, a high rate of endometrial cancer has been reported in women with hereditary non-polyposis colorectal cancer (HNPCC), suggesting a relationship between familial endometrial cancers and HNPCC. Familial endometrial cancers constitute only about 0.5% of all endometrial carcinomas and it is essential to examine family histories in detail. A mutational analysis of three DNA mismatch repair (MMR) genes (hMLH1, hMSH2 and hMSH6) in patients with endometrial cancer who meet our criteria for familial predisposition to HNPCC-associated endometrial cancers was performed. Mutations were detected in 18 of the 120 patients (15....
Source: Cancer Science - July 9, 2008 Category: Cancer & Oncology Authors: Y. Hirai, K. Banno, M. Suzuki, Y. Ichikawa, Y. Udagawa, K. Sugano, Y. Miki Source Type: journals

60-Year-Old Drug Shows New Promise For Inherited CancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cancer Research UK-funded scientists have shown that an early chemotherapy drug invented in the 1940s has the potential to work against a genetic fault called HNPCC* which is linked to bowel and other cancers. The results are published in EMBO Molecular Medicine** today, (Thursday). HNPCC is a hereditary condition involved in around five per cent of all bowel cancer cases.
Source: Health News from Medical News Today - August 28, 2009 Category: Consumer Health News Tags: Cancer / Oncology Source Type: news

Definition of HNPCCEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Most people have about a 6% chance of developing colon cancer at some point in their lives, usually after age 60. People with hereditary nonpolyposis colon cancer (HNPCC) have about an 80% risk of developing colon cancer, usually by age 44. Women with HNPCC also have about a 50% chance of developing uterine cancer.
Source: About.com Colon Cancer - March 7, 2009 Category: Cancer & Oncology Tags: health Source Type: consumer

CHEK2 mutations and HNPCC-related colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Recently, the 1100delC variant of cell cycle checkpoint kinase 2 (CHEK2) has been reported to confer a colorectal cancer risk in hereditary non-polyposis-colorectal cancer (HNPCC) and HNPCC-related families in the Netherlands. To investigate whether CHEK2 mutations confer increased cancer risk in HNPCC and HNPCC-related families in Poland, we genotyped 463 probands from HNPCC and HNPCC-related families, and 5,496 controls for 4 CHEK2 alleles (1100delC, IVS2+1G>A, del5395, I157T). All 463 probands were screened for mutations in the HNPCC-related genes MSH2, MLH1 and MSH6. A positive association was observed for HNPCC-relate...
Source: International Journal of Cancer - October 28, 2009 Category: Cancer & Oncology Authors: Janina Suchy, Cezary Cybulski, Dominika Woko[lstrok]orczyk, Oleg Oszurek, Bohdan Górski, Tadeusz D[eogon]bniak, Anna Jakubowska, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Ireneusz Dziuba, Marek Gogacz, Rafa[lstrok] Wi[sacute]niowski, Piotr Wandzel, Source Type: journals

Germline hMSH2 promoter mutation in a Chinese HNPCC kindred: evidence for dual role of LOHEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Clinical Genetics Volume 0, Issue 0, Page ???-???. Yan H, Jin H, Xue G, Mei Q, Ding F, Hao L, Sun S-H. Germline hMSH2 promoter mutation in a Chinese HNPCC kindred: evidence for dual role of LOH.Clin Genet 2007. © Blackwell Munksgaard, 2007Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly i...
Source: Clinical Genetics - September 26, 2007 Category: Stem Cells Tags: Short Reports Source Type: journals

Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome): Molecular Pathogenesis and Clinical Approaches to Diagnosis and Management for NursesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Hereditary nonpolyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is the most common form of hereditary colorectal cancer and is responsible for 2% to 4% of all colorectal cancers in the Western hemisphere. Generally characterized by early-onset colorectal carcinoma with a mean age of presentation of 40 to 45 years, it can also manifest with extracolonic adenocarcinomas and cancers of the endometrium, ovaries, stomach, pancreas, small intestine, hepatobiliary tract, upper uroepithelial tract, brain, and skin. HNPCC is autosomal dominant and carries an 80% lifetime risk of cancer development. This revie...
Source: Biological Research For Nursing - December 12, 2007 Category: Nursing Authors: Kurnat-Thoma, E. L. Tags: Article Source Type: journals

Immune Response Against Frameshift-Induced Neopeptides in HNPCC Patients and Healthy HNPCC Mutation Carriers.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 18619460 [PubMed - as supplied by publisher]
Source: Gastroenterology - July 8, 2008 Category: Gastroenterology Authors: Speetjens FM, Kuppen PJ, Morreau H, van der Burg SH Tags: Gastroenterology Source Type: journals

[Original articles] Phenotypic heterogeneity in hereditary non-polyposis colorectal cancer: identical germline mutations associated with variable tumour morphology and immunohistochemical expressionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The clinical, morphological and immunohistochemical variability observed within these families indicates that other mechanisms than the underlying germline mutation influence the HNPCC phenotype. Since morphological features linked to HNPCC are less frequent in distal cancers, it may be particularly relevant to obtain family history and age of onset in these tumours in order to identify individuals with HNPCC.
Source: Journal of Clinical Pathology - June 27, 2007 Category: Pathology Authors: Halvarsson, B., Muller, W., Planck, M., Benoni, A. C., Mangell, P., Ottosson, J., Hallen, M., Isinger, A., Nilbert, M. Tags: Cancer: gastroenterological Original articles Source Type: journals

Aspirin Benefits People With Lynch Syndrome (HNPCC)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
For people with Lynch syndrome (hereditary non-polyposis colorectal cancer - HNPCC), colon cancer is an ever-present worry. The genetic condition greatly increases the chances that a person will develop this...
Source: About.com Colon Cancer - October 4, 2009 Category: Cancer & Oncology Source Type: consumer

A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion??HNPCC in a Chinese family is associated with a novel mutation in theMSH2gene (MSH2: c.1216_1219dupCGAC). Content TypeJournal Article JournalInternational Journal of Colorectal DiseaseOnline ISSN 1432-1262Print ISSN 0179-1958
Source: International Journal of Colorectal Disease - March 5, 2007 Category: Gastroenterology Tags: International Journal of Colorectal Disease Source Type: journals

Lynch Syndrome(HNPCC) - Know the RisksEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Lynch syndrome, or Hereditary Nonpolyposis Colorectal Cancer (HNPCC), greatly increases risk of colon cancer in people who have this condition. Health experts believe that Lynch syndrome, which is due to...
Source: About.com Colon Cancer - July 26, 2009 Category: Cancer & Oncology Source Type: consumer

[Reviews] Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Women with hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome have a high risk for endometrial cancer (EC) and frequently present with a gynaecological cancer as their first or sentinel malignancy. Identification of these patients is important given their personal and family risk for synchronous and metachronous tumours. Modalities to detect ECs for the possibility of HNPCC include microsatellite instability assay, immunohistochemistry for DNA mismatch repair proteins, MLH1 promoter hypermethylation assay and mutational analysis of DNA mismatch repair genes. The revised Bethesda guidelines provide screening ...
Source: Journal of Clinical Pathology - July 27, 2009 Category: Pathology Authors: Garg, K, Soslow, R A Tags: Reviews Source Type: journals

Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report the first case of a papillary carcinoma of the kidney in an HNPCC patient who developed carcinomas of the upper urinary tract, endocervix, and colon. Whereas the HNPCC-related tumors demonstrated MSI phenotype, loss of MSH2 protein expression, and frameshift mutations in several of the 13 target genes analyzed, the kidney cancer displayed MSS phenotype, normal MMR protein expression, and no frameshift mutation in target genes. Our observations do not support the possibility that papillary carcinomas are part of HNPCC syndrome. Content TypeJournal Article JournalVirchows ArchivOnline ISSN 1432-2307Print ISSN...
Source: Virchows Archiv - August 26, 2006 Category: Pathology Source Type: journals

Which strategy holds most promise for women with HNPCC?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Source: PharmacoEconomics and Outcomes News - August 11, 2008 Category: Health Management Tags: Research article Source Type: journals

Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Our case demonstrates that HNPCC patients with MLH1 mutations are also at risk for ureteral neoplasms, and therefore urological surveillance is essential. This case adds to the growing list of disease-causing MMR mutations, and contributes to the development of genotype-phenotype correlations essential for assessing individual cancer risk and tailoring of optimal surveillance strategies. Additionally, our case draws attention to limitations of the Amsterdam Criteria and the need to maintain a high index of suspicion when newly diagnosed colorectal cancer meets the Bethesda Criteria. Establishment of the diagno...
Source: World Journal of Surgical Oncology - December 8, 2009 Category: Cancer & Oncology Authors: Cristian ValenzuelaHarvey MooreWilliam HuangElsa ReichHerman YeeHarry OstrerH Leon Pachter Source Type: journals

[Colorectal cancer] Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These findings may provide an additional phenotypic sign in HNPCC carriers, which could be used in first level CRC population screening programmes.
Source: Gut - September 11, 2006 Category: Gastroenterology Authors: De Felice, C, Gentile, M, Barducci, A, Bellosi, A, Parrini, S, Chitano, G, Latini, G Source Type: journals

Which strategy holds most promise for women with HNPCC?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Page: 13
Source: PharmacoEconomics & Outcomes News - August 9, 2008 Category: Drugs & Pharmacology Tags: HTML Source Type: journals

Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levelsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: Identification and adequate management of individuals at risk for hereditary nonpolyposis colorectal cancer (HNPCC) is crucial since surveillance programmes reduce morbidity and mortality. We investigated knowledge about key features of HNPCC in at risk individuals and physicians in surgery, gynecology and oncology. Methods: Data were collected using a questionnaire which was answered by 67 mutation carriers and 102 physicians from the southern Swedish health care region. The statements were related to colorectal cancer, heredity and surveillance and the physicians were also asked questions about cancer risks ...
Source: BMC Medical Genetics - Latest articles - March 26, 2009 Category: Genetics & Stem Cells Authors: Katarina Domanska, Christina Carlsson, Par-Ola Bendahl and Mef Nilbert Source Type: journals

Papillary serous carcinoma in situ in ovarian endometriosis in an MSH2 mutation carrierEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report a unique case of noninvasive serous carcinoma that developed in an endometriotic cyst of the ovary in an MSH2 mutation carrier.
Source: International Journal of Gynaecology and Obstetrics - June 21, 2009 Category: OBGYN Authors: Zvi Vaknin, Walter H. Gotlieb, Jocelyne Arseneau, Alex Ferenczy Tags: Brief communications Source Type: journals

Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 geneEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report and analyze a case of an HNPCC patient with three colorectal cancers and a B-cell non-Hodgkin lymphoma. Quantitative multiplex PCR of short fluorescent fragments detected a novel MSH2 rearrangement involving exons 9 and 10, which proved to be the pathogenic cause of the disease in the family. Tumor tissues including the lymphoma showed MSI and loss of MSH2 expression. Multiplex ligation-dependent probe amplification analysis revealed a somatic loss of the wild-type MSH2 allele in the lymphoma. These results support the fact that the total loss of a MMR gene can lead to lymphomagenesis, as seen in biallelic MMR-de...
Source: Genes, Chromosomes and Cancer - January 7, 2008 Category: Cancer & Oncology Authors: M. Pineda, E. Castellsagué, E. Musulén, G. Llort, T. Frebourg, S. Baert-Desurmont, S. González, G. Capellá, I. Blanco Source Type: journals

Early Carcinogenic Events in HNPCC Adenomas: Differences with Sporadic AdenomasEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion The expression of cell cycle- and apoptosis-related proteins differs between HNPCC and sporadic adenomas from early through to advanced stages although proliferation and apoptosis are not different. These differences may contribute to the different clinical behavior of HNPCC and sporadic adenomas. Content Type Journal ArticleCategory Original ResearchDOI 10.1007/s10620-007-0041-9Authors Fleur Elise Marie Rijcken, University Medical Center Groningen, University of Groningen Department of Gastroenterology and Hepatology Groningen The NetherlandsJan Jacob Koornstra, University Medical Center Groningen, Unive...
Source: Digestive Diseases and Sciences - November 13, 2007 Category: Gastroenterology Tags: Digestive Diseases and Sciences Source Type: journals

MDM2 SNP309 T>G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, the data indicates the G allele of MDM2 SNP309 might have a protective effect on disease development in HNPCC patients and that age of diagnosis of CRC is not associated with MDM2 SNP309 or TP53 R72P either as single SNPs or combined. © 2006 Wiley-Liss, Inc.
Source: International Journal of Cancer - November 10, 2006 Category: Cancer & Oncology Authors: Bente A. Talseth, Cliff Meldrum, Janina Suchy, Grzegroz Kurzawski, Jan Lubinski, Rodney J. Scott Source Type: journals

Environmental factors and colorectal tumor risk in individuals with hereditary nonpolyposis colorectal cancer.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Our data suggest that fruit consumption and dietary fiber intake might decrease the risk of colorectal tumors in individuals with HNPCC, whereas cigarette smoking might increase the risk of HNPCC-associated colorectal tumors. The observed associations support the hypothesis that HNPCC-associated outcomes might be modified by environmental factors. PMID: 17544999 [PubMed - in process]
Source: Clinical Gastroenterology and Hepatology - June 6, 2007 Category: Gastroenterology Authors: Diergaarde B, Braam H, Vasen HF, Nagengast FM, van Muijen GN, Kok FJ, Kampman E Tags: Clin Gastroenterol Hepatol Source Type: journals

Association between Aurora-A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Aurora-A kinase is considered a potential cancer susceptibility gene that encodes a centrosome-associated, cell cycle-regulated serine/threonine kinase. We studied two single nucleotide polymorphisms (SNP) in the coding region of Aurora-A, 91T-to-A (F31I) and 169G-to-A (V57I). We studied the influence of these two polymorphisms on age of onset of hereditary nonpolyposis colorectal cancer (HNPCC). Genotyping of the Aurora-A polymorphisms was carried out on 125 Caucasian with mismatch repair (MMR) gene mutations with real-time pyrophosphate DNA sequencing. For the 91T-to-A polymorphism, we found that patients with HNPCC who ...
Source: Molecular Carcinogenesis - January 11, 2007 Category: Molecular Biology Authors: Jinyun Chen, Subrata Sen, Christopher I. Amos, Chongjuan Wei, J. Shawn Jones, Patrick Lynch, Marsha L. Frazier Source Type: journals

[Gastric cancer] Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic studyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The present molecular evidence, combined with the previous demonstration of an increased incidence relative to the general population, justify considering gastric cancers as true HNPCC spectrum malignancies.
Source: Gut - June 12, 2007 Category: Gastroenterology Authors: Gylling, A, Abdel-Rahman, W M, Juhola, M, Nuorva, K, Hautala, E, Jarvinen, H J, Mecklin, J-P, Aarnio, M, Peltomaki, P Tags: Gastric cancer Source Type: journals

The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAPEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study ...
Source: Clinical Genetics - October 8, 2007 Category: Stem Cells Tags: Short Reports Source Type: journals

A novel MSH2 germline mutation in a Druze HNPCC familyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Germline mutations in DNA mismatch repair (DNA-MMR) genes, mainly MLH1, MSH2, and MSH6, underlie Hereditary non-polyposis colorectal cancer (HNPCC) and are mostly family-specific, with few reported founder mutations in MSH2 (Ashkenazim) MLH1 (Finnish). No mutations in colon cancer susceptibility genes have ever been reported in Druze individuals, a Moslem related faith encompassing ∼1,000,000 individuals worldwide. A novel MSH2 mutation is described in a Druze HNPCC family: a multigenerational family with 10 members in 4 generations affected with colorectal cancer (mean age of diagnosis 46.5 y...
Source: Familial Cancer - July 29, 2007 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

1940's drug targets bowel cancer geneEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The drug methotrexate, first used in the 1940's, has been found to destroy the damaged MSH2 gene prevelant in people with the genetic condition HNPCC. HNPCC contributes to bowel cancer, tumors of the stomach, womb, ovaries and kidneys. MSH2 usually plays an essential role in repairing DNA damage. When the gene is damaged, mistakes in the genetic code of cells increase the risk of cancer. Methotrexate selectively destroys cells lacking the MSH2 function, providing a targeted therapy for patients with bowel cancer caused by MSH2 mutation. The research, funded by Cancer Research UK, is welcomed by independent experts. Profess...
Source: WorldHealth.net - September 4, 2009 Category: Geriatrics Source Type: info

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterised by a predisposition to early onset colorectal, endometrial and other cancers. The tumours typically exhibit microsatellite instability due to defective mismatch repair. HNPCC is classically caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6 and PMS2, but no pathogenic mutations are identified in a third of cases. In recent years, constitutional epimutations of the MLH1 gene, characterised by soma-wide allele specific promoter methylation and transcriptional silencing, have been...
Source: Journal of Medical Genetics - December 1, 2009 Category: Genetics & Stem Cells Authors: Hitchins, M P, Ward, R L Tags: Genetic screening / counselling, Molecular genetics, Colon cancer, Screening (oncology), Epidemiology Review Source Type: journals

High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Hereditary nonpolyposis colorectal cancer (HNPCC), which represents the most common form of inherited colorectal cancer, results from germline alterations of the mismatch repair genes MSH2, MLH1 and MSH6. Rearrangements of MSH2 and MLH1 are involved in at least 10% and 4.3%, respectively, of the HNPCC families fulfilling the Amsterdam (AMS) criteria. We applied a recently developed method, multiplex ligation-dependent probe amplification (MLPA), to study MLH1/MSH2 copy number changes in 29 unrelated Basque Country HNPCC families. We detected six different genomic rearrangements in total (6/29=20.69%), four in MSH2 gene...
Source: Cancer Letters - June 18, 2007 Category: Cancer & Oncology Authors: Martínez-Bouzas C, Ojembarrena E, Beristain E, Errasti J, Viguera N, Tejada Minguéz MI Tags: Cancer Lett Source Type: journals

Consideration of hereditary nonpolyposis colorectal cancer in BRCA mutation-negative familial ovarian cancersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The objective of this study was to determine the incidence of HNPCC-related gene mutations in patients with familial ovarian cancer who previously tested negative for BRCA1 and BRCA2 gene mutations.Seventy-seven probands were identified who had familial ovarian cancer and negative BRCA gene mutation testing. Their pedigrees were analyzed for HNPCC syndrome. DNA samples underwent gene sequencing and Southern blot analysis for mutations in the 3 most common HNPCC-associated genes: mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2) with reflex testing for MSH6 if tests for the first 2 genes were negative.None of the probands met...
Source: Cancer - December 30, 2008 Category: Cancer & Oncology Authors: Stacey A. South, Heidi Vance, Carolyn Farrell, Richard A. DiCioccio, Cathy Fahey, M. Steven Piver, Kerry J. Rodabaugh Source Type: journals

Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrumEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Hereditary nonpolyposis colorectal cancer (HNPCC) is primarily linked to colorectal and endometrial cancer, but is associated with a broad tumor spectrum. Though not formally part of the syndrome, occasional sarcomas have been reported in individuals with HNPCC. We used the national Danish HNPCC-register to identify HNPCC families in which sarcomas had been diagnosed. Fourteen sarcomas were identified in families with mutations in MSH2, MSH6, and MLH1. The median age at sarcoma diagnosis was 43 (15–74) years. Soft tissue sarcomas predominated followed by uterine sarcomas and eight histopathol...
Source: Familial Cancer - January 8, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Upper Urinary Tract Urothelial Cell Carcinomas and Other Urological Malignancies Involved in the Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Tumor Spectrum.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: The recognized urologic tumor spectrum in HNPCC includes upper tract tumors. However, in order not to overlook a hereditary cancer, urologists should be aware of the possible urological malignancies associated with HNPCC (i.e., prostate and testicular carcinomas) and evaluate appropriately anyone they feel are at high risk of underlying HNPCC based on set clinical criteria. PMID: 18715695 [PubMed - as supplied by publisher]
Source: European Urology - August 12, 2008 Category: Urology & Nephrology Authors: Rouprêt M, Yates DR, Comperat E, Cussenot O Tags: Eur Urol Source Type: journals

Novel hMSH2 gene mutation in colorectal cancer patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
About 20% of colorectal cancer (CRC) patients have a genetic component and HNPCC is the most common autosomal dominant hereditary syndrome.
Source: News-Medical News Feed - February 26, 2008 Category: Consumer Health News Source Type: news

Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Discussion UC is not a proper method of screening for UTC in HNPCC. However, the study can not reveal if screening for UTC in special families ought to be recommended. Consequently, further studies needs to be performed in order to evaluate an appropriate screening programme. Content Type Journal ArticleDOI 10.1007/s10689-008-9193-9Authors T. Myrhøj, Hvidovre University Hospital The Danish HNPCC register, Department of Surgical Gastroenterology Copenhagen DenmarkM.-B. Andersen, Hvidovre University Hospital Patobank Copenhagen DenmarkI. Bernstein, Hvidovre University Hospital The Danish HNPCC register, Department of...
Source: Familial Cancer - April 4, 2008 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Immune response against frameshift-induced neopeptides in HNPCC patients and healthy HNPCC mutation carriers.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: These data suggest that FSPs presented by DNA mismatch repair-deficient CRC cells are effectively recognized by the patient's immune system and may explain the characteristic clinicopathologic features of HNPCC-associated but also sporadic MSI-H CRCs. These observations are of high relevance for the development of FSP-based vaccination approaches, particularly for the preventive application in HNPCC mutation carriers. PMID: 18395080 [PubMed - in process]
Source: Gastroenterology - April 1, 2008 Category: Gastroenterology Authors: Schwitalle Y, Kloor M, Eiermann S, Linnebacher M, Kienle P, Knaebel HP, Tariverdian M, Benner A, von Knebel Doeberitz M Tags: Gastroenterology Source Type: journals

[Need of new clinical criteria for the identification of genetic Lynch syndrome]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: The classic, modified AC and BG allowed the detection of an identical percentage of families with mutation positive HNPCC. The absence of the age criteria in the ACI makes the HNPCC diagnosis highly unlikely. Simpler and uniform criteria should be elaborated, to allow a homogeneous identification of families with HNPCC. PMID: 18331697 [PubMed - in process]
Source: Acta Medica Portuguesa - November 1, 2007 Category: Journals (General) Authors: Sousa R, Lage P, Ferreira S, Claro I, Francisco I, Filipe B, Albuquerque C, Suspiro A, Rodrigues P, Nobre-Leitão C Tags: Acta Med Port Source Type: journals

[Clinical and pathological analysis of 8 hereditary nonpolyposis colorectal cancer pedigrees.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
OBJECTIVE: To analyze the clinical and pathological features of patients with hereditary nonpolyposis colorectal cancer (HNPCC). METHODS: The data of 8 HNPCC pedigrees according with Amsterdam standard II were collected and their pedigree trees were generated. RESULTS: The morbidity of HNPCC was 1.59%. Thirty-one patients were found in the 8 HNPCC pedigrees including 25 with colorectal cancer and 6 with extraintestinal tumors. The 8 prohands consisted of 6 female and 2 male patients, among whom 4 were younger than 40 years old, 2 had lesions in the right colon, 3 in the left colon, and 3 in the rectum. The tumors were ...
Source: Journal of Southern Medical University - December 20, 2009 Category: Universities & Medical Training Authors: Wang Y, Yang L, Ding YQ, Tong J Tags: Nan Fang Yi Ke Da Xue Xue Bao Source Type: journals

Mutations of the PIK3CA gene in hereditary colorectal cancersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Somatic mutations of the PIK3CA gene have recently been detected in various human cancers, including sporadic colorectal cancer. However, mutations of the PIK3CA gene in hereditary colorectal cancers have not been clarified. To elucidate the mutation status in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC), which are the most common hereditary colorectal cancers, we investigated PIK3CA mutations in 163 colorectal tumors, including adenomas, intramucosal carcinomas and invasive carcinomas. For comparison, we also analyzed mutations of the same gene in 160 sporadic colorectal tumor...
Source: International Journal of Cancer - June 1, 2007 Category: Cancer & Oncology Authors: Michiko Miyaki, Takeru Iijima, Tatsuro Yamaguchi, Keiichi Takahashi, Hiroshi Matsumoto, Michiya Yasutome, Nobuaki Funata, Takeo Mori Source Type: journals

Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Clinical Genetics, Volume 0, Issue 0, Page ???, November 2004. Barrow E, Alduaij W, Robinson L, Shenton A, Clancy T, Lalloo F, Hill J, Evans DG. Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations.Clin Genet 2008. © Blackwell ...
Source: Clinical Genetics - June 12, 2008 Category: Stem Cells Tags: article Source Type: journals

Which strategy holds most promise for women with HNPCC?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Source: Inpharma - August 11, 2008 Category: Drugs & Pharmacology Tags: Research article Source Type: journals

The -149C>T SNP within the DeltaDNMT3B gene, is not associated with early disease onset in hereditary non-polyposis colorectal cancer.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we determined the DeltaDNMT3B genotype in 404 confirmed HNPCC participants (total of 194 CRC cases) from Australia (203) and Poland (201). From the total number of participants there were 194 diagnosed cases of CRC and 210 healthy MMR gene mutation carriers. The study was undertaken to assess whether the reported effect observed in a previous study of 146 HNPCC patients is consistent in a larger separate and unrelated participant cohort. Through the statistical tests of Kaplan-Meier survival analysis and Cox hazard regression models we did not observe any significant association between the DeltaDNMT3B C>T...
Source: Cancer Letters - March 10, 2008 Category: Cancer & Oncology Authors: Reeves SG, Mossman D, Meldrum CJ, Kurzawski G, Suchy J, Lubinski J, Scott RJ Tags: Cancer Lett Source Type: journals

Which strategy holds most promise for women with HNPCC?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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Source: Inpharma Weekly - August 9, 2008 Category: Drugs & Pharmacology Tags: HTML Source Type: journals

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