Hereditary Nonpolyposis Colorectal Cancer Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Mismatch Repair mRNA and Protein Expression in Intestinal Adenocarcinoma in Sika Deer (Cervus nippon) Resembling Heritable Non-polyposis Colorectal Cancer in Man
Publication date: Available online 9 February 2015 Source:Journal of Comparative Pathology Author(s): H. Jahns , J.A. Browne Intestinal adenocarcinomas seen in an inbred herd of farmed sika deer (Cervus nippon) morphologically resembled human hereditary non-polyposis colorectal cancer (HNPCC). Features common to both included multiple de novo sites of tumourigenesis in the proximal colon, sessile and non-polyposis mucosal changes, the frequent finding of mucinous type adenocarcinoma, lymphocyte infiltration into the neoplastic tubules and Crohn's-like lymphoid follicles at the deep margin of the tumour. HNPCC is defi...
Source: Journal of Comparative Pathology - February 13, 2015 Category: Pathology Source Type: research

Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is Achievable for a High Proportion of Familial CRC by Exome Sequencing [Genetic Testing for Cancer]
Conclusion A genetic diagnosis is feasible in a high proportion of familial CRC. Mainstreaming such analysis in clinical practice should enable the medical management of patients and their families to be optimized. Findings suggest CRC screening of POLE and POLD1 mutation carriers should be comparable to that afforded to those at risk of HNPCC. Although the risk of CRC associated with unexplained familial CRC is in general moderate, in some families the risk is substantive and likely to be the consequence of unidentified genes, as exemplified by POLE and POLD1. Our findings have utility in the design of genetic analyses to...
Source: Journal of Clinical Oncology - February 6, 2015 Category: Cancer & Oncology Authors: Chubb, Broderick, Frampton, Kinnersley, Sherborne, Penegar, Lloyd, Ma, Dobbins, Houlston Tags: Bioinformatics, Statistical Genetics, Diagnosis & Staging Genetic Testing for Cancer Source Type: research

Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum
Conclusion A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome. (Source: Japanese Journal of Clinical Oncology)
Source: Japanese Journal of Clinical Oncology - January 31, 2015 Category: Cancer & Oncology Authors: Yamaguchi, T., Furukawa, Y., Nakamura, Y., Matsubara, N., Ishikawa, H., Arai, M., Tomita, N., Tamura, K., Sugano, K., Ishioka, C., Yoshida, T., Moriya, Y., Ishida, H., Watanabe, T., Sugihara, K., for HNPCC Registry and Genetic Testing Project of the Japan Tags: Gastrointestinal Medicine, Original Articles Source Type: research

Ideal colonoscopic surveillance intervals to reduce incidence of advanced adenoma and colorectal cancer
ConclusionsMost family history categories did not confer excess risk above personal history of advanced neoplasia. A prior cancer poses less of a risk than a prior advanced adenoma. Based on our models, a person with an advanced adenoma should be scheduled for colonoscopy at 3 years, corresponding to a 15% risk of advanced neoplasia for a male <56. Guidelines should be updated that uses a 15% risk as a benchmark for calculating surveillance intervals. (Source: Journal of Gastroenterology and Hepatology)
Source: Journal of Gastroenterology and Hepatology - January 22, 2015 Category: Gastroenterology Authors: Norm M Good, Finlay A Macrae, Graeme P Young, John O'Dywer, Masha Slattery, William Venables, Trevor J Lockett, Marilla O'Dwyer Tags: Experimental Gastroenterology Source Type: research

Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome
ConclusionIn Lynch syndrome brain tumors occurred in 14% of the families with significantly higher risks for individuals with MSH2 gene mutations and development of childhood brain tumors in individuals with constitutional MMR defects. (Source: European Journal of Neurology)
Source: European Journal of Neurology - January 19, 2015 Category: Neurology Authors: C. Therkildsen, S. Ladelund, E. Rambech, A. Persson, A. Petersen, M. Nilbert Tags: Original Article Source Type: research

Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families
Conclusions Due to the increased risk of OC and absence of any benefit from gynecological screening reported in the literature it is recommended that prophylactic oophorectomy for female carriers of MMR mutations after 35 year of age should be considered as a risk reducing option. Annual transvaginal ultrasound supported by CA125 or HE4 marker testing should be performed after prophylactic surgery in these women. Due to the high risk of EC it is reasonable to offer, after the age of 35 years, annual clinical gynecologic examinations with transvaginal ultrasound supported by rou...
Source: Hereditary Cancer in Clinical Practice - January 16, 2015 Category: Cancer & Oncology Source Type: research

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
In conclusion, a PPAP was identified in a substantial number of polyposis and familial colorectal cancer patients. Screening for polymerase proofreading mutations should therefore be considered, particularly in unexplained familial cases. The present study broadens the phenotypic spectrum of PPAP to duodenal adenomas and carcinomas, and identified novel, potentially pathogenic variants in four polymerase genes. This article is protected by copyright. All rights reserved. (Source: International Journal of Cancer)
Source: International Journal of Cancer - December 20, 2014 Category: Cancer & Oncology Authors: Isabel Spier, Stefanie Holzapfel, Janine Altmüller, Bixiao Zhao, Sukanya Horpaopan, Stefanie Vogt, Sophia Chen, Monika Morak, Susanne Raeder, Katrin Kayser, Dietlinde Stienen, Ronja Adam, Peter Nürnberg, Guido Plotz, Elke Holinski‐Feder, Richard P. Li Tags: Cancer Genetics Source Type: research

Tumoral expression of nuclear cofactor FHL2 is associated with lymphatic metastasis in sporadic but not in HNPCC-associated colorectal cancer
Conclusions We recently demonstrated that enhanced nuclear FHL2 expression in tumor stroma of sporadic colon cancer is associated with lymphatic metastasis. The results of the present study indicate a synergistic effect of nuclear cofactor FHL2 in tumor cells as well as in peritumoral stroma cells promoting lymphatic metastasis in sporadic CRC. As HNPCC-associated tumors did not show a significant association between tumoral nuclear FHL2 expression and lymphatic metastasis we speculate, that the intensive lymphocytic immune response in HNPCC precludes a direct contact of tumor cells and stromal cells resulting in reduced l...
Source: Pathology Research and Practice - December 18, 2014 Category: Pathology Source Type: research

Segmental versus extended colectomy in the management of HNPCC; a systematic review and meta‐analysis
ConclusionsThe optimal surgical approach in the management of HNPCC remains unclear. More adenomas and cancers occur after segmental colectomy than after total colectomy but there certainly isn't evidence to suggest that more radical surgery leads to improved survival.This article is protected by copyright. All rights reserved. (Source: Colorectal Disease)
Source: Colorectal Disease - December 16, 2014 Category: Gastroenterology Authors: Helen M Heneghan, Sean T Martin, Desmond C Winter Tags: Systematic Review Source Type: research

Abstract 18: Molecular characterization of Brazilian patients suspected for Lynch syndrome
Lynch syndrome (LS), former known as Hereditary Non Polyposis Colorectal cancer (HNPCC), accounts for 3-5% of all colorectal cancers (CRC) and is inherited in an autossomal dominant fashion. This syndrome is characterized by early CRC onset, high incidence of tumors in the ascending colon, excess of synchronous and metachronous tumors, and accelerated transition adenoma-carcinoma (2-3 years). Nowadays, LS is regarded of patients who carry deleterious germline mutations in one of the five Mismatch repair genes, such as MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MutS homolog 6 (MSH6), post-meiotic segregation increased 1 ...
Source: Cancer Research - December 12, 2014 Category: Cancer & Oncology Authors: Silva, F. C., Torrezan, G. T., Figueiredo, M. C., Ferreira, J. R. O., Santos, E. M., Nakagawa, W. T., Aguiar-Junior, S., Rossi, B. M., Ferreira, F. O., Carraro, D. M. Tags: Poster Presentations Source Type: research

Tumoural expression of nuclear cofactor FHL2 is associated with lymphatic metastasis in sporadic but not in HNPCC-associated colorectal cancer
Conclusions We recently demonstrated that enhanced nuclear FHL2 expression in tumour stroma of sporadic colon cancer is associated with lymphatic metastasis. The results of the present study indicate a synergistic effect of nuclear cofactor FHL2 in tumour cells as well as in peritumoural stroma cells promoting lymphatic metastasis in sporadic CRC. As HNPCC-associated tumours did not show a significant association between tumoural nuclear FHL2 expression and lymphatic metastasis we speculate, that the intensive lymphocytic immune response in HNPCC precludes a direct contact of tumour cells and stromal cells resulting in red...
Source: Pathology Research and Practice - December 12, 2014 Category: Pathology Source Type: research

Tumoral expression of nuclear cofactor FHL2 is associated with lymphatic metastasis in sporadic but not in HNPCC-associated colorectal cancer.
CONCLUSIONS: We recently demonstrated that enhanced nuclear FHL2 expression in tumor stroma of sporadic colon cancer is associated with lymphatic metastasis. The results of the present study indicate a synergistic effect of nuclear cofactor FHL2 in tumor cells as well as in peritumoral stroma cells promoting lymphatic metastasis in sporadic CRC. As HNPCC-associated tumors did not show a significant association between tumoral nuclear FHL2 expression and lymphatic metastasis we speculate, that the intensive lymphocytic immune response in HNPCC precludes a direct contact of tumor cells and stromal cells resulting in reduced ...
Source: Pathology, Research and Practice - December 11, 2014 Category: Pathology Authors: Al-Nomani L, Friedrichs J, Schüle R, Büttner R, Friedrichs N Tags: Pathol Res Pract Source Type: research

Erratum to: Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)
(Source: Medical Oncology)
Source: Medical Oncology - December 4, 2014 Category: Cancer & Oncology Source Type: research

Muir-torre syndrome.
Abstract Muir-Torre syndrome (MTS) is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Sebaceous tumors include sebaceous adenoma and carcinoma, which may be solitary or multiple. Visceral malignancies most often arise in the colorectum and endometrium. Because a subset of patients with phenotypic MTS will have germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, MTS is considered a phenotypic subtype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), in which inherited defects in DNA mism...
Source: Archives of Pathology and Laboratory Medicine - November 30, 2014 Category: Laboratory Medicine Authors: Bhaijee F, Brown AS Tags: Arch Pathol Lab Med Source Type: research

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)
Conclusions Quantitative MLH1 promoter region methylation using pyrosequencing is superior to BRAF codon 600 mutation status in identifying constitutional mutations in mismatch repair deficient tumours. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - November 17, 2014 Category: Genetics & Stem Cells Authors: Newton, K., Jorgensen, N. M., Wallace, A. J., Buchanan, D. D., Lalloo, F., McMahon, R. F. T., Hill, J., Evans, D. G. Tags: Colon cancer, Screening (oncology), Epidemiology Cancer genetics Source Type: research