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Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: LGRs accounted for 25% of germline MMR mutations identified in 28 Slovakian HNPCC families. A high frequency of LGRs among the MSH2 mutations provides a rationale for a MLPA screening of the Slovakian HNPCC families prior scanning by DNA sequencing. LOH at part of the informative loci confined to the MLH1 or MSH2 gene (heterozygous LGR region, SNP, or microsatellite) is a novel finding and can be regarded as a partial LOH. The conversion begins within the gene, and the details of conversion tracts are discussed for each case. (Source: BioMed Central)
Source: BioMed Central - November 20, 2009 Category: Journals (General) Authors: Katarina ZavodnaTomas KrivulcikMaria Gerykova BujalkovaTomas SlamkaDavid MartinickyDenisa IlencikovaZdena Bartosova Source Type: journals

Inherited Colorectal Cancer SyndromesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Clinics in Colon and Rectal Surgery 2009; 22: 198-208DOI: 10.1055/s-0029-1242459ABSTRACTColorectal cancer is common in the Western world; ~5% of individuals diagnosed with colorectal cancer have an identifiable inherited genetic predisposition to this malignancy. Genetic testing and rational clinical management recommendations currently exist for the management of individuals with a variety of colorectal cancer syndromes, including hereditary nonpolyposis colorectal cancer (HNPCC, also known as Lynch syndrome), familial adenomatous polyposis (FAP), MYH-associated polyposis (MAP), and the hamartomatous polyposis syndromes (...
Source: Clinics in Colon and Rectal Surgery - November 7, 2009 Category: Surgery Source Type: journals

Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeastEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Results of our in vivo yeast-based approach correlate well with clinical data in five out of seven hMLH1 variants and the described model was thus shown to be useful for functional characterization of MLH1 variants in cancer patients found throughout the entire coding region of the gene. (Source: BMC Cancer)
Source: BMC Cancer - October 28, 2009 Category: Cancer & Oncology Authors: Matjaz VogelsangAleksandra CominoNeja ZupanecPetra HudlerRadovan Komel Source Type: journals

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCCEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we report of a common mutation in the MSH6 gene in Ashkenazi Jews. Genetic counseling and diagnostic work-up for HNPCC was conducted in families who attended the high risk clinic for inherited cancer. We identified the mutation c.3984_3987dup in the MSH6 gene in 19 members of four unrelated Ashkenazi families. This mutation results in truncation of the transcript and in loss of expression of the MSH6 protein in tumors. Tumor spectrum among carriers included colon, endometrial, gastric, ovarian, urinary, and breast cancer. All but one family qualified for the Bethesda guidelines and none fulfilled the Amste...
Source: Familial Cancer - October 22, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Review of family history taking in women aged under fifty years presenting with colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Introduction: Colorectal Cancer is a leading cause of mortality in the UK, with an average age of diagnosis of 64 years. HNPCC is a genetic condition caused by germline mutations in DNA mismatch repair gene, manifesting as an 80% lifetime risk of developing colorectal cancer with an average age of diagnosis of 44 years. HNPCC also signifies an increased risk of other cancers including endometrial, ovarian, small bowel, ureter and stomach. It is therefore relevant for a comprehensive family history to be elicited in women (Source: European Journal of Surgical Oncology)
Source: European Journal of Surgical Oncology - October 16, 2009 Category: Cancer & Oncology Authors: Ruth Copeland, W. Chorley, N. Hurst Tags: Abstracts Source Type: journals

Gynaecological cancers in genetically susceptible women: new thoughts on tubal pathologyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Women may be genetically susceptible to development of gynecological cancers. Major familial ovarian cancer syndromes include site-specific ovarian cancer, breast/ovarian cancer, and hereditary non-polyposis colon cancer (HNPCC). The former two syndromes are linked to BRCA1 and BRCA2 genes while DNA repair genes such as hMSH2 and hMLH1 are commonly involved in HNPCC. Carriers are also prone to endometrial carcinoma. BRCA mutation related ovarian tumours are more likely to be high grade serous whilst borderline tumours are conspicuously absent. Papillary serous carcinomas of the peritoneum and fallopian tube are a...
Source: Diagnostic Histopathology - October 12, 2009 Category: Pathology Authors: Ui-Soon Khoo, Dan-Hua Shen, Richard Wing-Cheuk Wong, Annie Nga-Yin Cheung Tags: Mini-Symposium: Pathology of the Uterus and Fallopian Tube 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)
Source: About.com Colon Cancer - October 4, 2009 Category: Cancer & Oncology Source Type: consumer

Role of Surgery in Familial Adenomatous Polyposis and Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Surgery remains the mainstay of treatment for patients who develop colorectal cancer (CRC) in the setting of a hereditary CRC syndrome. In patients with a hereditary CRC syndrome, surgery can be prophylactic, therapeutic with curative intent, and, in some cases, palliative. The type and extent of surgical resection in familial adenomatous polyposis (FAP) and in the Lynch syndrome is influenced by differences in the natural history of carcinogenesis between the two syndromes and by the effectiveness of and patient compliance with available surveillance strategies. In this article, the surgical options for the management of ...
Source: Surgical Oncology Clinics of North America - September 29, 2009 Category: Surgery Authors: Kerrington D. Smith, Miguel A. Rodriguez-Bigas Source Type: journals

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)
Source: Surgical Oncology Clinics of North America - September 29, 2009 Category: Surgery Authors: Patrick M. Lynch Source Type: journals

Familial Colorectal Cancer Type X: The Other Half of Hereditary Nonpolyposis Colon Cancer SyndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Establishing the Amsterdam criteria, based on pedigrees, was essential for defining hereditary nonpolyposis colorectal cancer (HNPCC) syndrome in such a way that the underlying genetic cause could be identified. It is now known that about half of families that fulfill the original Amsterdam criteria have a hereditary DNA mismatch repair (MMR) gene mutation. These families may be said to have Lynch syndrome. The other half of families with HNPCC has no evidence of DNA MMR deficiency, and studies show that these families are different from families with Lynch syndrome. Familial colorectal cancer type X is the name used to re...
Source: Surgical Oncology Clinics of North America - September 29, 2009 Category: Surgery Authors: Noralane M. Lindor Source Type: journals

Quadruplex MAPH: improvement of throughput in high-resolution copy number screening.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: QuadMAPH is an accurate, high-resolution method that allows targeted screening of large numbers of subjects without the expense of genome-wide approaches. Whilst we have applied this technique to a region of the human genome, it is equally applicable to the genomes of other organisms. (Source: BMC Genomics - Latest articles)
Source: BMC Genomics - Latest articles - September 27, 2009 Category: Genetics & Stem Cells Authors: Jess TysonTamsin MajerusSusan WalkerJohn Armour Source Type: journals

Cancer Risk Assessment by Rural and Appalachian Family Medicine PhysiciansEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Though rural Appalachian physicians do not differ in ability to identify high risk individuals, access barriers may exist for genetic testing. Interventions are needed to boost physician confidence in identifying hereditary cancer and to improve availability and awareness of availability of genetic services. (Source: The Journal of Rural Health)
Source: The Journal of Rural Health - September 22, 2009 Category: Rural Health Authors: Kimberly M. Kelly, Margaret M. Love, Kevin A. Pearce, Kyle Porter, Mary A. Barron, Michael Andrykowski Tags: Cancer Source Type: journals

Recommendations to improve identification of hereditary and familial colorectal cancer in EuropeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, the outcome of this survey and the discussions within an European expert group may be used to improve the strategies to identify individuals at high risk of CRC. More attention should be given to increasing the awareness of the general population of hereditary CRC. Immunohistochemical analysis or MSI-analysis of all CRCs may be an effective tool for identifying all Lynch syndrome families. The cost-effectiveness of this approach should be further evaluated. All countries with a CRC population screening program should obtain a full family history as part of patient assessment. Content Type Journal Art...
Source: Familial Cancer - September 18, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract  Hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome underlies between 2 and 5% of all colorectal cancer. It is inherited as an autosomal dominant condition due to mutations in the mismatch repair genes. Fifty-four non-related index cases, 21 of them fulfilling Amsterdam criteria I or II, were studied. Ten (10/21 = 47.6%) different pathological mutations were found in this group, two of which had not previously been reported—one in MLH1 and the other in MSH2-. In the remaining patients, we also found another family with one of these new mutations, and four additional chan...
Source: Familial Cancer - September 17, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Frequent alterations of the PI3K/AKT/mTOR pathways in hereditary nonpolyposis colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract  The phosphatidylinositol 3-kinases-AKT-mammalian target of rapamycin pathway (PI3K/AKT/mTOR) is central in colorectal tumors. Data on its role in hereditary cancers are, however, scarce and we therefore characterized mutations in PIK3CA and KRAS, and expression of PIK3CA, phosphorylated AKT, and PTEN in colorectal cancers linked to hereditary nonpolyposis colorectal cancer (HNPCC). Sequencing was used to identify mutations in PIK3CA, a real-time PCR-based method to identify KRAS mutations, and immunohistochemical staining was used to evaluate the expression of PIK3CA, phosphorylated AKT and PTEN in 5...
Source: Familial Cancer - September 16, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomasEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) is the most frequent inherited disease which can lead to the development of tumors in the colon and other locations. Its genetic basis is related to the germline mutation of the Mismatch Repair (MMR) genes. Muir-Torre syndrome is considered one of the subtypes of this disease, in which the HNPCC tumor spectrum is frequently associated with sebaceous carcinoma of the skin or keratoacanthoma.A 57 years old male patient is presented with a mucinous carcinoma of the caecum and an adenocarcinoma of the pancreas head. A malignant sebaceous carcinoma was removed from...
Source: European Journal of Surgical Oncology - September 14, 2009 Category: Cancer & Oncology Authors: M. Tanyi, J. Olasz, G. Lukács, J.L. Tanyi, L. Tóth, P. Antal-Szalmás, Z. Ress, T. Bubán, C. András, L. Damjanovich Tags: Educational Article 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)
Source: About.com Colon Cancer - September 8, 2009 Category: Cancer & Oncology Authors: coloncancer.guide at about.com Tags: health Source Type: consumer

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

Molecular Analysis of Endometrial Tumorigenesis: Importance of Complex Hyperplasia Regardless of Atypia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: Molecular changes in endometrial tissue are detectable several years before endometrial carcinoma in genetically predisposed individuals. Abnormal MMR and methylation classify normal endometrium and simple hyperplasia into one category and complex hyperplasia without atypia, complex hyperplasia with atypia, and endometrial carcinoma into another, suggesting that, contrary to a traditional view, complex hyperplasia without atypia and complex hyperplasia with atypia are equally important as precursor lesions of endometrial carcinoma. (Clin Cancer Res 2009;15(18):OF1-12). PMID: 19723644 [PubMed - as supplied ...
Source: Clinical Cancer Research - August 31, 2009 Category: Cancer & Oncology Authors: Nieminen TT, Gylling A, Abdel-Rahman WM, Nuorva K, Aarnio M, Renkonen-Sinisalo L, Järvinen HJ, Mecklin JP, Bützow R, Peltomäki P Tags: Clin Cancer Res Source Type: journals

Comprehensive Molecular Analysis of Mismatch Repair Gene Defects in Suspected Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) CasesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
An accurate algorithm is essential for effective molecular diagnosis of hereditary colorectal cancer (CRC). Here, we have extended the analysis of 71 CRC cases suspected to be Lynch syndrome cases for MSH2, MLH1, MSH6, and PMS2 gene defects. All cases were screened for mutations in MSH2, MLH1, and MSH6, and all cases where tumors were available were screened for microsatellite instability (MSI) and expression of MSH2 and MLH1. Subsequently, mutation-negative cases were screened for MLH1 methylation and mutations in PMS2. Of the MSI-high (MSI-H) cases, 96% had a mismatch repair (MMR) gene defect, mostly involving MSH2 or ML...
Source: Cancer Research - August 30, 2009 Category: Cancer & Oncology Authors: Mueller, J., Gazzoli, I., Bandipalliam, P., Garber, J. E., Syngal, S., Kolodner, R. D. Tags: Molecular Biology, Pathobiology, and Genetics 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)
Source: Health News from Medical News Today - August 28, 2009 Category: Consumer Health News Tags: Cancer / Oncology Source Type: news

Methotrexate induces oxidative DNA damage and is selectively lethal to tumour cells with defects in the DNA mismatch repair gene MSH2Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Mutations in the MSH2 gene predispose to a number of tumourigenic conditions, including hereditary non-polyposis colon cancer (HNPCC). MSH2 encodes a protein in the mismatch repair (MMR) pathway which is involved in the removal of mispairs originating during replication or from damaged DNA. To identify new therapeutic strategies for the treatment of cancer arising from MMR deficiency, we screened a small molecule library encompassing previously utilized drugs and drug-like molecules to identify agents selectively lethal to cells lacking functional MSH2. This approach identified the drug methotrexate as being highly selecti...
Source: EMBO Molecular Medicine - August 27, 2009 Category: Molecular Biology Authors: Sarah A. Martin, Afshan McCarthy, Louise J. Barber, Darren J. Burgess, Suzanne Parry, Christopher J. Lord, Alan Ashworth Source Type: journals

Nonfluorescent Denaturing HPLC-Based Primer-Extension Method for Allele-Specific Expression: Application to Analysis of Mismatch Repair Genes [Molecular Diagnostics and Genetics]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Independent DHPLC-based primer-extension assays for measuring and confirming ASE can be developed for different sequence variants of interest. This DHPLC application provides a cost-effective method for detecting ASE in cases for which conventional screening fails to detect pathogenic mutations in candidate genes and may be applicable for confirming ASE revealed by other methods, such as those used for transcriptome-wide analyses. . (Source: Clinical Chemistry)
Source: Clinical Chemistry - August 27, 2009 Category: Chemistry Authors: Aceto, G. M., De Lellis, L., Catalano, T., Veschi, S., Radice, P., Di Iorio, A., Mariani-Costantini, R., Cama, A., Curia, M. C. Tags: Molecular Diagnostics and Genetics Source Type: journals

Colorectal cancer in Iran: immunohistochemical profiles of four mismatch repair proteinsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions  Along with the recommendations of the National Institute of Cancer, we recommend immunohistochemistry staining for MLH1, MSH2, PMS2, and MSH6 for determining the eligibility of patients for mutation analysis of MMR genes. Content Type Journal ArticleCategory Original ArticleDOI 10.1007/s00384-009-0784-1Authors Mahsa Molaei, Shahid Beheshti University M.C. Department of Pathology, Research Institute for Gastroenterology and Liver Diseases, Taleghani Hospital Tehran IranBabak Khoshkrood Mansoori, Shahid Beheshti University M.C. Research Institute for Gastroenterology and Liver Diseases, Talegh...
Source: International Journal of Colorectal Disease - August 25, 2009 Category: Gastroenterology Tags: International Journal of colorectal Disease Source Type: journals

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, only 1/10 missense mutations displayed repair deficiency and could be classified as pathogenic. No final conclusion can be drawn on the MSH2 p.Met688Val mutation, which caused reduced protein expression. Although, no deficiencies have been identified in the proteins harbouring the other missense mutations, pathogenicity of these variants cannot be unambiguously excluded. Content Type Journal ArticleDOI 10.1007/s10689-009-9274-4Authors Lise Lotte Christensen, Aarhus University Hospital Molecular Diagnostic Laboratory Skejby DenmarkReetta Kariola, University of Helsinki Department of Biological and Env...
Source: Familial Cancer - August 20, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract  Hereditary non-polyposis colon cancer (HNPCC) is an autosomal dominant condition, caused by germline mutations in the mismatch repair genes, that presents with colorectal cancers at a young age, as well as extracolonic tumours. One of the causative mutations is the C1528T (Exon 13) mutation of the MLH1 gene. The purpose of this study is to document the cancer risk for subjects who carry this mutation. This is a prospective cohort study of 200 subjects who carry this mutation. We calculated the risk of developing colorectal cancer only in those subjects who had not undergone surveillance colonoscopy....
Source: Familial Cancer - August 17, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assayEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract  Lynch syndrome (hereditary non-polyposis colorectal cancer) is an inherited disease caused by germ-line mutation in mismatch repair genes such as MLH1, MSH2, and MSH6. The mutations include missense and nonsense mutations, small insertions and deletions, and gross genetic alterations including large deletions and duplications. In addition to these genetic changes, mutations in introns are also involved in the pathogenesis. However, it is sometimes difficult to interpret correctly the pathogenicity of variants in exons as well as introns. To evaluate the effect of splice-site mutations in two Lynch s...
Source: Familial Cancer - August 15, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Absence of germline mono-allelic promoter hypermethylation of the CDH1 gene in gastric cancer patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These results suggest that germline mono-allelic hypermethylation of the CDH1 promoter is not a major predisposing factor for gastric cancer. (Source: Molecular Cancer)
Source: Molecular Cancer - August 11, 2009 Category: Cancer & Oncology Authors: Hidetaka YamadaKazuya ShinmuraMasanori GotoMoriya IwaizumiHiroyuki KonnoHideki KataokaMasami YamadaTakachika OzawaToshihiro TsuneyoshiFumihiko TaniokaHaruhiko Sugimura Source Type: journals

Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract  Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is one of the commonest cancer susceptibility syndromes. It is characterized by early onset colon cancer and a variety of extracolonic tumours. Germline mutations in the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS1, and PMS2) are responsible for this disorder. Identifying an affected individual depends on the tumour histopathology, family history that fulfils the Amsterdam and/or Bethesda criteria, tumour immunohistochemistry, microsatellite instability, and finally molecular analysis of an affected member. It is a laborious, t...
Source: Familial Cancer - August 9, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Germline mutations or the malfunctioning of postreplicative mismatch repair genes (MMR) are responsible of hereditary nonpolyposis colorectal cancer (HNPCC), and are also implied in some sporadic colorectal cancer (CRC) forms without any familial history of this disease. Besides germinal mutations and methylation, single-nucleotide polymorphisms (SNP) can predispose to nonfamilial CRC with low to moderate penetrance. In this case–control study, we analyzed three MLH1 single-nucleotide polymorphisms (exon 5: 415G→C, rs28930073; exon 8: 655A→G, rs1799977 and exon 16: 1852-1853AA→GC) in 140 sporadic colorect...
Source: Cancer Genetics and Cytogenetics - August 8, 2009 Category: Genetics & Stem Cells Authors: Nargisse Nejda, Daniel Iglesias, Mariano Moreno Azcoita, Vicente Medina Arana, Juan J. González-Aguilera, Antonia M. Fernández-Peralta Tags: Original articles Source Type: journals

[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

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)
Source: About.com Colon Cancer - July 26, 2009 Category: Cancer & Oncology Source Type: consumer

Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract  Whether or not breast cancer can be a feature of the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome has been debated. In order to clarify if defective mismatch repair (MMR) may indeed play a role in breast cancer, we used the Danish HNPCC register to identify all breast cancers that occurred in MMR gene mutation carriers. In total, 20 female mutation carriers were diagnosed with breast cancer at mean 50 years of age. These tumors were predominantly ductal carcinomas with extensive lymphocytic reactions in 8/14 evaluated tumors. MMR protein immunostaining showed loss of expression of...
Source: Breast Cancer Research and Treatment - July 6, 2009 Category: Cancer & Oncology Tags: Breast Cancer Research and Treatment Source Type: journals

Somatic mutations of the CDC4 (FBXW7) gene in hereditary colorectal tumors.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: The results indicate that the frequency of CDC4 mutations in colorectal tumors is similar in patients with HNPCC and FAP compared to patients with sporadic carcinomas. Moreover, infrequent LOH suggests that the CDC4 gene does not follow the general 2-hit model. PMID: 19420964 [PubMed - indexed for MEDLINE] (Source: Oncology)
Source: Oncology - June 27, 2009 Category: Cancer & Oncology Authors: Miyaki M, Yamaguchi T, Iijima T, Takahashi K, Matsumoto H, Mori T Tags: Oncology 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)
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

Colon cancer screening practices and disclosure after receipt of positive or inconclusive genetic test results for hereditary nonpolyposis colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study compared endoscopy use and disclosure between individuals with positive and inconclusive genetic test results, within a year after results were received.Individuals with a personal history of cancer and suspected of having HNPCC participated in genetics education and counseling, underwent HNPCC testing, and received genetic test results (GCT) within a prospective cohort study. Demographic, psychosocial, and behavioral data were obtained from questionnaires and interviews completed before and after GCT.Index cases with inconclusive genetic test results were less likely to screen within 12 months. Index cases who ...
Source: Cancer - June 16, 2009 Category: Cancer & Oncology Authors: Anne L. Ersig, Donald W. Hadley, Laura M. Koehly Source Type: journals

Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract  In women with hereditary non polyposis colorectal carcinoma (HNPCC) an annual gynaecological surveillance has been recommended because of an increased lifetime risk of developing endometrial and ovarian carcinoma. The aim of this study was to assess the efficacy of gynaecological surveillance with regard to endometrial and ovarian carcinoma. Included were women from families that fulfilled the revised Amsterdam criteria for HNPCC or who showed a proven mutation in one of the mismatch repair genes. An annual gynaecological surveillance was performed (transvaginal ultrasound (TVU) and CA 125 assessmen...
Source: Familial Cancer - June 6, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Anaplastic oligoastrocytoma in Turcot syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report a 72 year old woman with anaplastic oligoastrocytoma in the setting of TS. Careful analysis of tumor DNA is required to exclude the chance occurrence of a brain tumor in HNPCC kindreds and increase our understanding of the pathogenesis of the disease. Our case adds to the handful of cases published with detailed molecular data previously. Content Type Journal ArticleCategory Case ReportDOI 10.1007/s11060-009-9928-yAuthors Joachim Baehring, Yale University School of Medicine Department of Neurology 333 Cedar Street, TMP412 New Haven CT 06510 USAPei Hui, Yale University School of Medicine Department of...
Source: Journal of Neuro-Oncology - June 4, 2009 Category: Cancer & Oncology Tags: Journal of Neuro-Oncology Source Type: journals

A Parametric Model for Analyzing Anticipation in Genetically Predisposed FamiliesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Anticipation, i.e. a decreasing age-at-onset in subsequent generations has been observed in a number of genetically triggered diseases. The impact of anticipation is generally studied in affected parent-child pairs. These analyses are restricted to pairs in which both individuals have been affected and are sensitive to right truncation of the data. We propose a normal random effects model that allows for right-censored observations and includes covariates, and draw statistical inference based on the likelihood function. We applied the model to the hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome family coho...
Source: Statistical Applications in Genetics and Molecular Biology - June 2, 2009 Category: Genetics & Stem Cells Tags: Genetics Source Type: journals

Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion  In all patients, an abnormal expression of the MMR proteins in HNPCC was related to the above novel mutations. Content Type Journal ArticleCategory Original ArticleDOI 10.1007/s00384-009-0731-1Authors Mahdi Montazer Haghighi, Taleghani Hospital, Shaheed Beheshti Medical University Research Center for Gastroenterology and Liver Diseases Zip Code: 1985711151 Tehran IranRamin Radpour, University of Basel Laboratory for Prenatal Medicine and Gynecologic Oncology, Women’s Hospital/Department of Biomedicine Hebelstrasse 20 CH 4031 Basel SwitzerlandKatayoun Aghajani, Taleghani Hospital, Shaheed Be...
Source: International Journal of Colorectal Disease - May 29, 2009 Category: Gastroenterology Tags: International Journal of colorectal Disease Source Type: journals

Serous oligocystic adenoma (SOIA) of the pancreas - first reported case of a genetically fixed association in a patient with hereditary non-polyposis colorectal cancer (HNPCC).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a 41-year-old man with a cystic lesion within the pancreatic head. Therefore, he underwent pylorus-preserving cephal duodenopancreatectomy. Pathohistologic investigation revealed a SOIA. He had a medical history significant for subtotal colectomy because of a synchronous double colonic carcinoma. Both tumor tissue specimens had been characterized for a high level of microsatellite instability (MSI) and loss of hMLH1, as well as for a corresponding germ line mutation in hMLH1 gene, leading to the diagnosis of hereditary non-polyposis associated colon cancer (HNPCC). The case is remarkable since the SOIA reveale...
Source: Pathology, Research and Practice - May 12, 2009 Category: Pathology Authors: Petersen M, Evert M, Schneider-Stock R, Pross M, Rüschoff J, Roessner A, Lippert H, Meyer F Tags: Pathol Res Pract Source Type: journals

A novel germline mutation of hMLH1 in a Korean hereditary non-polyposis colorectal cancer family.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on the case of a Korean HNPCC family with endometrial cancer, with the goal of elucidating the involvement of an MMR deficiency. Although the family history did not fulfill the Amsterdam criteria II, blood samples were subjected to genetic testing by the revised Bethesda guidelines. Immunohistochemistry and direct sequencing of the genomic DNA identified a C insertion at the 1780th base in exon 16 of hMLH1, a pathogenic mutation that has not been reported before. By this mutation, premature termination at codon 592 resulted with an estimated deletion of 21% of the C-terminus of the hMLH1 protein. For early detect...
Source: International Journal of Oncology - April 30, 2009 Category: Cancer & Oncology Authors: Kim KH, Kim JY, Oh SI, Baik HW, Kang DW, Jung SH, Rho JH, Hwang IT Tags: Int J Oncol Source Type: journals

A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCREmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Aims: Hereditary non-polyposis colon cancer (HNPCC) is an autosomal dominant disorder that is genetically heterogeneous because of underlying mutations in mismatch repair (MMR) genes, primarily MLH1, MSH2 and MSH6. One challenge to correctly diagnose HNPCC is that the large size of the causative genes makes identification of mutations both labour intensive and expensive.Methods: Our heteroduplex analysis by capillary array electrophoresis (HA-CAE) method, previously developed to increase the throughput and allow other multi-exon genes to be scanned, has been adapted for MMR genes. The altered peak patterns were t...
Source: European Journal of Cancer - April 28, 2009 Category: Cancer & Oncology Authors: Lucia Perez-Cabornero, Eladio Velasco, Mar Infante, David Sanz, Enrique Lastra, Lara Hernández, Cristina Miner, Mercedes Duran Tags: Experimental oncology Source Type: journals

Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screeningEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Endoscopy 2009; 41: 316-322DOI: 10.1055/s-0028-1119628 Individuals carrying germline mutations in one of the genes responsible for hereditary nonpolyposis colon cancer (HNPCC) have a lifetime risk of up to 80 % of developing colorectal cancer. As there is evidence for a higher incidence of flat adenomatous precursors and because an accelerated adenoma–carcinoma sequence has been postulated for these patients, early detection of these lesions is essential. It was the aim of the present study to assess the detection rate of polypoid lesions by comparing chromocolonoscopy with standard white light colonoscopy and ...
Source: Endoscopy - April 8, 2009 Category: Gastroenterology Tags: Original article Source Type: journals

[Our experience with the incidence of hereditary non-polyposis colorectal cancer]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: 8 out of 10 pathogenic mutations were novel and published rst time by ourselves. No repeatedly occurring mutations were found in our patients. It seems that these genetic alterations are located sporadically on different exons of the involved MMR genes. Our mutation detection rate was 77 percent in the Amsterdam positive patients who were completely examined, which appears to be better than the published data in the relevant literature. Importantly, 30 percent of the mutation carrier could be missed applying only this single criteria system. In order to detect the highest number of HNPCC patients, we suggest us...
Source: Magyar Sebeszet - March 31, 2009 Category: Surgery Authors: Tanyi M Tags: Magy Seb Source Type: journals

[Review] Management of extracolonic tumours in patients with Lynch syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Hereditary nonpolyposis colorectal cancer, or Lynch syndrome, is responsible for 2–3% of all colorectal cancers. Lynch syndrome is also associated with a high risk of extracolonic cancers, including endometrial, stomach, small bowel, pancreas, biliary tract, ovary, urinary tract, brain, and skin cancer. In this Review, we discuss the risks, surveillance tests, and guidelines for the management of extracolonic tumours associated with Lynch syndrome. For all types of extracolonic cancer, evidence supporting surveillance is scarce. A benefit of surveillance is evident only for endometrial cancer, where transvaginal ultrasou...
Source: The Lancet Oncology - March 30, 2009 Category: Cancer & Oncology Authors: Jan J Koornstra, Marian JE Mourits, Rolf H Sijmons, Annemarie M Leliveld, Harry Hollema, Jan H Kleibeuker Tags: Review 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

Study: Women and HNPCCEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study looked at ways to prevent the other cancers from occurring. (Source: About.com Colon Cancer)
Source: About.com Colon Cancer - March 7, 2009 Category: Cancer & Oncology Tags: health Source Type: consumer

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)
Source: About.com Colon Cancer - March 7, 2009 Category: Cancer & Oncology Tags: health Source Type: consumer

Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Scientific and rational detection strategy can improve the detection rate of HNPCC. Based on traditional molecular genetics and combined with epigenetics, multiple detection methods can accurately diagnose HNPCC. PMID: 19248199 [PubMed - in process] (Source: World Journal of Gastroenterology)
Source: World Journal of Gastroenterology - February 28, 2009 Category: Gastroenterology Authors: Sheng JQ, Zhang H, Ji M, Fu L, Mu H, Zhang MZ, Huang JS, Han M, Li AQ, Wei Z, Sun ZQ, Wu ZT, Xia CH, Li SR Tags: World J Gastroenterol Source Type: journals