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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

Estrogens, MSI and Lynch syndrome-associated tumors.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Estrogens play a major role in the biology of hormone-responsive tissues but also in the normal physiology of various non-typical hormone-responsive tissues. In disease, estrogens have been associated with tumor development, in particular with tumors such as breast, endometrium, ovary and prostate. In this paper we will review the molecular mechanisms by which estrogens are involved in cancer development, with a special focus in Lynch syndrome related neoplasia. Further, we discuss the role estrogens might have on cell proliferation and apoptosis, how estrogens metabolites can induce DNA damage and we discuss a possibl...
Source: Biochimica et Biophysica Acta - November 7, 2009 Category: Biochemistry Authors: Ferreira AM, Westers H, Albergaria A, Seruca R, Hofstra RM Tags: Biochim Biophys Acta Source Type: journals

Aspirin Confers Long-Term Protective Effect in Lynch Syndrome PatientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Lynch syndrome patients enrolled in an "unsuccessful" trial are demonstrating lower rates of colorectal cancer 4 years after the aspirin study's initiation. Medscape Medical News (Source: Medscape Hematology-Oncology Headlines)
Source: Medscape Hematology-Oncology Headlines - November 2, 2009 Category: Cancer & Oncology Tags: Pathology & Lab Medicine Source Type: info

Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic settingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The Edinburgh and Premm1,2 model were the models with the best performance for an intermediate to high risk setting. These models may well be of use in clinical practice to select patients for further testing of mismatch repair gene mutations. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Ramsoekh, D, van Leerdam, M E, Wagner, A, Kuipers, E J, Steyerberg, E W Tags: Molecular genetics, Colon cancer Original articles Source Type: journals

Colorectal Cancer Due to Deficiency in DNA Mismatch Repair Function: A ReviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome attributable to deleterious germline mutations in mismatch repair (MMR) genes. The syndrome is typified by early-onset, frequently right-sided colorectal cancers (CRCs) with characteristic histologic features and tendency for multiplicity and an increased risk for extracolonic tumors at particular sites; it accounts for 1% to 5% of CRC. Deficient mismatch repair (dMMR) function manifests as immunohistochemically detectable absence of one or more MMR proteins and microsatellite instability (MSI). Approximately 15% of sporadic, noninherited CRC are c...
Source: Advances in Anatomic Pathology - October 30, 2009 Category: Pathology Tags: Review Articles 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

ORIGINAL CONTRIBUTION: Risk of Pancreatic Cancer in Families With Lynch SyndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions Among 147 families with germline MMR gene mutations, the risk of pancreatic cancer was increased compared with the US population. Individuals with MMR gene mutations and a family history of pancreatic cancer are appropriate to include in studies to further define the risk of premalignant and malignant pancreatic neoplasms and potential benefits and limitations of surveillance. (Source: JAMA)
Source: JAMA - October 27, 2009 Category: Journals (General) Authors: Kastrinos, F., Mukherjee, B., Tayob, N., Wang, F., Sparr, J., Raymond, V. M., Bandipalliam, P., Stoffel, E. M., Gruber, S. B., Syngal, S. Tags: Oncology, Colon Cancer, Oncology, Other, Gastroenterology, Gastrointestinal Diseases, Liver/ Biliary Tract/ Pancreatic Diseases, Genetics, Genetic Disorders Original Contribution 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

Microsatellite instability screening should be done for right-sided colon cancer patients less than 60 years of ageEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions Colorectal cancers with MSI-H were predominantly located on the right side and had an early pathological stage. The results of this study suggest that microsatellite instability test should be used for all patients under 60 years of age with right-sided colon cancer. Content Type Journal ArticleCategory Original ArticleDOI 10.1007/s00384-009-0815-yAuthors Chia-Lin Chou, National Yang-Ming University Division of Colon & Rectal Surgery, Department of Surgery, Taipei Veterans General Hospital No 201, Section 2, Shih-Pai Road Taipei 11217 TaiwanJen-Kou Lin, National Yang-Ming University ...
Source: International Journal of Colorectal Disease - October 21, 2009 Category: Gastroenterology Tags: International Journal of colorectal Disease 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

Establishing pathogenicity of germline mismatch repair gene mutations: A Bayesian modelEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
An increasing problem in diagnostic molecular genetics is establishing the pathogenicity of mutations. It is therefore fortunate that in Lynch Syndrome data from the analysis of tumours can provide evidence for or against pathogenicity. Testing tumours for microsatellite instability and immunohistochemical changes in protein expression is now in almost routine use, but how confident can one be that these findings are evidence for or against pathogenicity? Attempts are being made to address the general issue of interpretation through e.g. IARC [Plon SE et al. Hum Mutat. (2008) 29(11):1282-91.], the UK Clinical Molecular Gen...
Source: European Journal of Surgical Oncology - October 16, 2009 Category: Cancer & Oncology Authors: Ian Frayling, E. Sheridan, D. Eccles 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

Familial adenomatous polyposisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, manifests equally in both sexes, and accounts for less than 1% colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or d...
Source: Orphanet Journal of Rare Diseases - October 11, 2009 Category: Internal Medicine Authors: Elizabeth HalfDani BercovichPaul Rozen Source Type: journals

Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of BrazilEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in one of the mismatch repair (MMR) genes: MLH1, MSH2, MSH6 and PMS2. Clinically, Lynch syndrome is characterized by early onset (45 years) of colorectal cancer (CRC), as well as extra-colonic cancer. Male and female carriers of Lynch syndrome-associated mutations have different lifetime risks for CRC and in women endometrial cancer (EC) may be the most common tumor. Whenever Amsterdam criteria are not fulfilled, the currently recommended laboratory screening strategies involve microsatellite ins...
Source: Familial Cancer - October 11, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

Aspirin Found to Prevent Cancer in Lynch SyndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
BERLIN (EGMN) - The perseverance of researchers has led to the preliminary finding that aspirin helps prevent cancers in Lynch syndrome, a genetic condition that accounts for about 5% of all colon cancers.A... (Source: OncologySTAT Latest News)
Source: OncologySTAT Latest News - October 7, 2009 Category: Cancer & Oncology Source Type: news

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

Ten Years After Mutation Testing for Lynch Syndrome: Cancer Incidence and Outcome in Mutation-Positive and Mutation-Negative Family Members [Cancer Prevention and Control]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion Long-term compliance in surveillance for CRC and EC exceeded 95% in Lynch syndrome. All CRC deaths were not prevented as a result of noncompliance or missed lesions. Still, after 10 years of surveillance, no significant increase in mortality had occurred compared with mutation-negative relatives. (Source: Journal of Clinical Oncology)
Source: Journal of Clinical Oncology - September 28, 2009 Category: Cancer & Oncology Authors: Jarvinen, Renkonen-Sinisalo, Aktan-Collan, Peltomaki, Aaltonen, Mecklin Tags: Hereditary cancer syndromes Cancer Prevention and Control 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

Aspirin Reduces Colon Cancer Risk in Lynch Syndrome PatientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Individuals with Lynch syndrome, who are at increased risk of colon cancer, in addition to other types of cancer, may be able to reduce this risk by taking aspirin. A study conducted in Europe among approximately... (Source: OncologySTAT What Patients Are Reading)
Source: OncologySTAT What Patients Are Reading - September 23, 2009 Category: Cancer & Oncology Source Type: info

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

Aspirin Use Reduces the Risk for Colorectal CancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Even after its use was discontinued, aspirin offered protection against colon cancer in individuals with Lynch syndrome. Medscape Medical News (Source: Medscape Hematology-Oncology Headlines)
Source: Medscape Hematology-Oncology Headlines - September 22, 2009 Category: Cancer & Oncology Tags: Hematology-Oncology Source Type: info

Aspirin Use Reduces Risk for Colorectal Cancer in Lynch SyndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Even after its use was discontinued, aspirin offered protection against colon cancer in individuals with Lynch syndrome. Medscape Medical News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - September 22, 2009 Category: Consumer Health News Tags: Hematology-Oncology Source Type: news

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

Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract To characterize the frequency of germline mutations associated with Lynch syndrome and review the potential expanded differential diagnoses in very early onset colorectal cancer (CRC) cases without apparent polyposis. Retrospectively reviewed medical records of 96 probands with CRC diagnosed prior to age 36 from three cancer centers. Determined the frequency of germline mutations in probands meeting different clinical criteria used to identify Lynch syndrome. Three of 46 (6.5%) single case indicators (probands without additional personal or family history suspicious for Lynch syndrome) were identifi...
Source: Familial Cancer - September 16, 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

Sebaceous lesions and their associated syndromes: Part IIEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear sebaceous nevus syndrome has been traditionally known as the triad of sebaceous nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir–Torre syndrome is described as the presence of sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to scr...
Source: Journal of the American Academy of Dermatology - September 14, 2009 Category: Dermatology Authors: Daniel B. Eisen, Daniel J. Michael Tags: Continuing Medical Education 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

[Cancer genetics: estimation of the needs of the population in France for the next ten years.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Organised since 1990 in France, cancer genetics has been strengthened since 2003 by the programme "Plan Cancer" which resulted in an improvement of the organisation of activities. The aim of this review is to present an update of the estimation of the needs of the population in this field for the next ten years, provided by a group of experts mandated by the French National Cancer Institute. Identification and management of major hereditary predispositions to cancer have a major impact on decrease in mortality and incidence. Sensitivity of criteria for the detection of BRCA1/2 mutations could be substantially improved ...
Source: Bulletin du Cancer - September 13, 2009 Category: Cancer & Oncology Authors: Bonaïti-Pellié C, Andrieu N, Arveux P, Bonadona V, Buecher B, Delpech M, Jolly D, Julian-Reynier C, Luporsi E, Noguès C, Nowak F, Olschwang S, Orsi F, Pujol P, Saurin JC, Sinilnikova O, Stoppa-Lyonnet D, Thépot F Tags: Bull Cancer 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

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, we aimed to estimate the frequency of suspected Lynch syndrome among a series of 135 PC patients. Further, we wanted to determine the frequency of MMR gene mutations in the suspected Lynch syndrome cases. We also aimed to verify the pathogenicity of any novel non-truncating variants we might detect with a functional assay. Based on personal and/or familial cancer history, 19 patients were classified as suspected Lynch syndrome cases. DNA material for mutation analysis was available for eleven of them. Four patients were found to carry a total of five MLH1 or MSH2 variants. Of these, MSH2-Q402X, MSH2-G32...
Source: Familial Cancer - September 3, 2009 Category: Cancer & Oncology Tags: Familial Cancer Source Type: journals

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

Potential Germline Epimutations in Lynch Syndrome: More Evidence for Genetics Superseding Epigenetics in Inactivation of DNA Mismatch Repair Genes in Hereditary Colorectal CancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Ligtenberg MJL, Kuiper RP, Chan TL, et al. (Department of Human Genetics 849 and Department of Pathology, Raboud University Nijmegen, The Netherlands; Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, and Hereditary Gastrointestinal Cancer Registry, Department of Pathology, St Paul's Hospital, Hong Kong; Department of Surgery, Yan Chai Hospital, Hong Kong). Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet 2009;41:112–117. (Source: Gastroenterology)
Source: Gastroenterology - August 30, 2009 Category: Gastroenterology Authors: Matthias P.A. Ebert, Oliver G. Opitz Tags: Selected Summaries 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

Lynch syndrome screening strategies among newly diagnosed endometrial cancer patients.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION:: Of the strategies studied, immunohistochemical evaluation of tumor specimens for mismatch repair protein expression after single gene sequencing for patients with endometrial cancer is a cost-effective strategy for detecting Lynch syndrome. LEVEL OF EVIDENCE:: III. PMID: 19701031 [PubMed - in process] (Source: Obstetrics and Gynecology)
Source: Obstetrics and Gynecology - August 26, 2009 Category: OBGYN Authors: Resnick K, Straughn JM, Backes F, Hampel H, Matthews KS, Cohn DE Tags: Obstet Gynecol 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

Cost-Effectiveness of Lynch Syndrome Screenings StudiedEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In patients newly diagnosed with endometrial cancer, immunohistochemistry followed by single gene sequencing may be the most cost-effective screening strategy for Lynch syndrome, according to a study published in the September issue of Obstetrics & Gynecology. (Source: Modern Medicine)
Source: Modern Medicine - August 23, 2009 Category: Journals (General) Source Type: info

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

Genetic variants in the cell cycle control pathways contribute to early onset colorectal cancer in Lynch syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions Polymorphisms in these cell cycle-related genes work together to modify the age at the onset of CRC in patients with Lynch syndrome. These studies provide an important part of the foundation for development of a model for stratifying age of onset risk among those with Lynch syndrome. Content Type Journal ArticleCategory Brief reportDOI 10.1007/s10552-009-9416-xAuthors Jinyun Chen, The University of Texas M. D. Anderson Cancer Center Department of Epidemiology Unit 1365, 1155 Pressler Boulevard Houston TX 77030 USACarol J. Etzel, The University of Texas M. D. Anderson Cancer Center Departme...
Source: Cancer Causes and Control - August 19, 2009 Category: Cancer & Oncology Tags: Cancer Causes and Control Source Type: journals

Colorectal Cancer Risk Perception on the Basis of Genetic Test Results in Individuals at Risk for Lynch Syndrome [Gastrointestinal Cancer]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion Patients at risk for Lynch syndrome with an indeterminate genetic test result may be falsely reassured. It is important that health care providers continue to discuss the implications of uninformative results on lifetime cancer risk. (Source: Journal of Clinical Oncology)
Source: Journal of Clinical Oncology - August 17, 2009 Category: Cancer & Oncology Authors: Grover, Stoffel, Mercado, Ford, Kohlman, Shannon, Conrad, Blanco, Terdiman, Gruber, Chung, Syngal Tags: Hereditary cancer syndromes Gastrointestinal 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