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Total 244 results found since Jan 2013.

Enhanced Tumoral MLH1-Expression in MLH1-/PMS2-Deficient Colon Cancer Is Indicative of Sporadic Colon Cancer and Not HNPCC.
This study analyzed semiquantitatively whether the MLH1 staining pattern might be indicative of sporadic or HNPCC-associated colorectal cancer. Using a semiquantitative score ranging from 0 (negative) to 12 (maximum immunopositivity) we analyzed MLH1 expression patterns in 130 MLH1-/PMS2-deficient colorectal cancers. The collective consisted of 70 HNPCC-associated colorectal cancers and 60 sporadic colon cancers. In tumor cells of 70 HNPCC-associated colorectal cancers, 64 cases (91.43%) showed no MLH1 staining, 5 cases weak (7.14%) and 1 case (1.43%) stronger staining intensity. In contrast, in tumor cells of 60 sporadic ...
Source: Pathology Oncology Research - January 6, 2019 Category: Pathology Authors: Tarancón-Diez M, Büttner R, Friedrichs N Tags: Pathol Oncol Res Source Type: research

A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study.
Abstract Lynch syndrome (LS), an autosomal dominantly inherited disease previously known as hereditary non-polyposis colorectal cancer (HNPCC), leads to a high risk of colorectal cancer (CRC) as well as malignancy at certain sites including endometrium, ovary, stomach, and small bowel (Hampel et al., 2008; Lynch et al., 2009). Clinically, LS is considered the most common hereditary CRC-predisposing syndrome, accounting for about 3% of all CRC cases (Popat et al., 2005). LS is associated with mutations of DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM (Ligtenberg et al., 2009; Lynch et al...
Source: J Zhejiang Univ Sci ... - January 1, 2019 Category: Science Authors: Sui QQ, Jiang W, Wu XD, Ling YH, Pan ZZ, Ding PR Tags: J Zhejiang Univ Sci B Source Type: research

BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma.
Authors: Ng J, Lu CT, Lam AK Abstract The aims are to review the relevance of the BRAF mutations in the clinical settings of colorectal carcinoma. All the literature concerning BRAF mutations and colorectal carcinoma published in PubMed from 2010 to 2018 was reviewed. Multiple variants of BRAF mutations exist in colorectal cancer, the most common type being V600E. The mutation is found in 5 to 15% of colorectal carcinomas and is less common in Asian populations. BRAF mutations are linked with older age, female gender, cigarette smoking and are more common in the right (proximal) portion of the large intestine. BRAF...
Source: Histology and Histopathology - December 30, 2018 Category: Cytology Tags: Histol Histopathol Source Type: research

Epidemiology and risk factors of pancreatic cancer.
Abstract The most frequent pancreatic cancer is pancreatic adenocarcinoma. It has high and early locally and distant invasiveness; this is the reason why it often shows little sign or symptoms in early stage and poor prognosis after the diagnosis, frequently in advanced stage. Although it is possible to detect this tumor in early stage because of its neoplastic precursor (PanINs). Epidemiological data shows that pancreatic cancer is not very common but obvious it is one of the most neoplastic death-cause in the world. The trend of incidence is quite increasing through years, proportionally to the increase of risk ...
Source: Acta Bio-Medica : Atenei Parmensis - December 17, 2018 Category: General Medicine Authors: Capasso M, Franceschi M, Rodriguez-Castro KI, Crafa P, Cambiè G, Miraglia C, Barchi A, Nouvenne A, Leandro G, Meschi T, De' Angelis GL, Di Mario F Tags: Acta Biomed Source Type: research

Microsatellite instability in colorectal cancer.
Abstract Microsatellites are short tandem repeat DNA sequences of one to tetra base pairs distributed throughout the human genome, both in coding and non-coding regions. Owing to their repeated structure, microsatellites are particularly prone to replication errors that are normally repaired by the Mismatch Repair (MMR) system. MMR is a very highly conserved cellular process, involving many proteins, resulting in the identification, and subsequent repair of mismatched bases, likely to have arisen during DNA replication, genetic recombination or chemical or physical damage. Proteins within the MMR system include ML...
Source: Acta Bio-Medica : Atenei Parmensis - December 17, 2018 Category: General Medicine Authors: De' Angelis GL, Bottarelli L, Azzoni C, De' Angelis N, Leandro G, Di Mario F, Gaiani F, Negri F Tags: Acta Biomed Source Type: research

Risk of endometrial cancer in asymptomatic postmenopausal patients with thickened endometrium: data from the FAME-Endo study: an observational register study
ConclusionsOur data compare favorably to a theoretical cohort suggesting a clinically reasonable cut-off of  >  11 mm endometrial thickness to discriminate between “normal” and “pathological”. The data regarding “risk for endometrial cancer” can be used for counseling affected women.
Source: Archives of Gynecology and Obstetrics - October 1, 2018 Category: OBGYN Source Type: research

Screening for susceptibility genes in hereditary non-polyposis colorectal cancer.
Authors: Yu L, Yin B, Qu K, Li J, Jin Q, Liu L, Liu C, Zhu Y, Wang Q, Peng X, Zhou J, Cao P, Cao K Abstract In the present study, hereditary non-polyposis colorectal cancer (HNPCC) susceptibility genes were screened for using whole exome sequencing in 3 HNPCC patients from 1 family and using single nucleotide polymorphism (SNP) genotyping assays in 96 other colorectal cancer and control samples. Peripheral blood was obtained from 3 HNPCC patients from 1 family; the proband and the proband's brother and cousin. High-throughput sequencing was performed using whole exome capture technology. Sequences were aligned agai...
Source: Oncology Letters - June 1, 2018 Category: Cancer & Oncology Tags: Oncol Lett Source Type: research

Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries.
Authors: Chen E, Xu X, Liu T Abstract Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies and extrac...
Source: Journal of Oncology - June 1, 2018 Category: Cancer & Oncology Tags: J Oncol Source Type: research

Mo1717 HOW TO CREATE AN ELECTRONIC DATABASE FOR HNPCC (LYNCH SYNDROME) FROM EXISTING SOFTWARE PROGRAMS: MD ANDERSON CANCER CENTER HNPCC SURVEILLANCE OUTCOMES, A STEP TOWARDS ESTABLISHING QUALITY METRICS FOR HIGH RISK CANCER PATIENTS
A European multicenter group was the first to calculate cumulative cancer incidence rates in patients with HNPCC stratified by mutation and patient demographics. As a step toward U.S. collaboration, we retrospectively evaluated existing clinical software programs to create our HNPCC database. This database was prospectively queried to calculate surveillance outcomes to help establish quality metrics in this field.
Source: Gastrointestinal Endoscopy - May 30, 2018 Category: Gastroenterology Authors: Selvi Thirumurthi, Mala Pande, Phillip Lum, Sarah A. Bannon, Maureen Mork, Miguel A. Rodriguez-Bigas, Y. Nancy You, Eduardo Vilar Sanchez, Patrick M. Lynch Tags: Monday abstract Source Type: research

Analysis of human MutS homolog 2 missense mutations in patients with colorectal cancer.
Authors: Zhang X, Chen S, Yu J, Zhang Y, Lv M, Zhu M Abstract Germline mutations of DNA mismatch repair gene human MutS homolog 2 (hMSH2) are associated with hereditary nonpolyposis colorectal cancer (HNPCC). A total of one-third of these mutations are missense mutations. Several hMSH2 missense mutations have been identified in patients in East Asia, although their function has not been evaluated. In the present study, the role of ten hMSH2 missense mutations in the pathogenesis of colorectal cancer was examined. The hMSH2/hMSH6 protein interaction system was established using yeast two-hybrid screening. Next, the ...
Source: Oncology Letters - May 10, 2018 Category: Cancer & Oncology Tags: Oncol Lett Source Type: research

Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes
AbstractDissemination of information on a genetically increased risk should according to guidelines primarily be family-mediated. Incomplete and incorrect information spread has, however, been documented and implies missed possibilities for prevention. In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer. To evaluate this approach, we investigated reactions and attitudes to unsolicited letters in 708 members of families wi...
Source: Familial Cancer - April 12, 2018 Category: Cancer & Oncology Source Type: research

Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders.
Abstract Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, is an autosomal dominant, tumor predisposing disorder usuallycaused by germline mutations in mismatch repair (MMR) genes. A subset of HNPCC, Muir-Torre Syndrome (MTS) also involves MMR gene defects and is generally accepted as a variant of HNPCC. MTS is typicallycharacterized by at least one visceral malignancy and one cutaneous neoplasm of sebaceous differentiation, with or without keratoacanthomas. In either version of the disorder, nonfunctional MMR systems lead tothe loss of genomic integrity, marked commonly by mismatche...
Source: Dermatol Online J - November 15, 2017 Category: Dermatology Authors: Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A Tags: Dermatol Online J Source Type: research

Familial Colorectal Cancer Type X.
This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to localize new FCCTX genes, along with an overview of the genes and chromosomal areas that possibly relate to FCCTX. FCCTX is a heterogeneous group, mainly comprising cases caused by single high-penetrance genes, or by multiple low-penetrance genes acting together, and sporadic CRC cases. FCCTX differs in clinical, morphological and molecular genetic characteristics compared to LS, including a later age of onset, distal location of tumours in the colon, lower risk of developing extracolon...
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

The association between CCND1 G870A polymorphism and colorectal cancer risk: A meta-analysis
Conclusions: Conclusions:This meta-analysis suggests that the CCND1 G870A polymorphism is associated with an increased risk of CRC, especially that A carriers may be a major risk factor for CRC.
Source: Medicine - October 1, 2017 Category: Internal Medicine Tags: Research Article: Systematic Review and Meta-Analysis Source Type: research