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Total 244 results found since Jan 2013.

Statement on risk assessment for inherited gynecologic cancer predispositions.
Abstract Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with Hereditary Breast & Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk of ovarian, tubal, and peritoneal cancers. Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, have up to a 40-60% lifetime risk of both endometrial and colorectal cancers as well as a 9-12% lifetime risk of ovarian cancer. Mutations in other genes including...
Source: Gynecologic Oncology - September 17, 2014 Category: Cancer & Oncology Authors: Lancaster JM, Powell CB, Chen LM, Richardson DL, SGO Clinical Practice Committee Tags: Gynecol Oncol Source Type: research

Familial Pancreatic Cancer: Challenging Diagnostic Approach and Therapeutic Management
Conclusions However, the optimal age of initial screening remains undefined. Furthermore, a multidisciplinary assessment is required to determine whether surgical interventions should be performed at high-volume specialty centers. The aim of this study is to collect all the recent information considering the genetic basis, screening protocols, and treatment of FPC in order to provide an update on the current contemporary concepts of therapeutic management of the disease.
Source: International Journal of Gastrointestinal Cancer - September 1, 2014 Category: Cancer & Oncology Source Type: research

Abstract 1910: Evolution of preleukemia stem cells to lymphoma initiating cells requires thymus in msh2-/- mice
In this study, we use MSH2-/- mice as a model to investigate the existence of PLSC and the evolution of PLSC to LIC. Using bone marrow transplantation, we found that limiting dilutions of MSH2-/- HSCs from young mice are able to reconstitute lethally irradiated wild-type recipients, and contribute to development of multiple hematopoietic lineages. However, all the recipients develop thymic lymphomas after a latency of 3-4 months post transplantation. Transplantation of different fractions of bone marrow cells or thymocytes from young MSH2-/- mice showed that only the HSC enriched fraction leads to lymphoma development. The...
Source: Cancer Research - September 30, 2014 Category: Cancer & Oncology Authors: Qing, Y., Gerson, S. L. Tags: Tumor Biology Source Type: research

P1-11-1 * IMPORTANCE TO CLARIFY GERMLINE hMLH1 K618A MISSENSE MUTATION FOR CLINICAL SURVEILLANCE AND GENETIC COUNSELING
Colorectal cancer (CRC) is the third common cancer and the fourth leading cause of cancer death worldwide. Subproportion CRC with defect function in one of the mismatch repair gene (MMR) are classed as inherited non-polyposis colorectal cancer (HNPCC) later called Lynch syndrome (LS). Disease causing germline mutations have so far been identified in five MMR genes. Among other MMR genes, germline mutations in hMLH1 account up to 50% LS patients and lead to increased risk of cancer development. hMLH1 K618A variant was first identified in our lab and was considered as a disease causing pathogenic alteration, our further inve...
Source: Annals of Oncology - October 19, 2014 Category: Cancer & Oncology Authors: Liu, T., Lindblom, A. Tags: Poster Session (Poster presentations categorized by each organ) Source Type: research

Abstract A27: BLM overexpression promotes tumorigenicity in an azoxymethane/dextran sulfate (AOM/DSS) murine model of intestinal cancer
The role of genomic instability in colorectal cancer susceptibility is well established by studies of hereditary non-polyposis colon cancer (HNPCC), its associated disruption of DNA mismatch repair, and other DNA repair deficiencies that predispose to colon cancer. DNA repair deficiency that results in loss of capacity to maintain the genome leads to increased mutation or chromosome instability that in turn increases tumor formation. In some recent experiments using mouse models of cancer, deletion of genomic housekeeping genes promoted tumorigenesis. The Blm gene encodes a RecQ helicase that represses aberrant homologous ...
Source: Molecular Cancer Research - November 13, 2014 Category: Cancer & Oncology Authors: Ebede, K., McIlhatton, M., Hankey, W., Groden, J. Tags: Target Discovery and Validation: Poster Presentations - Proffered Abstracts Source Type: research

The Incidence of Hereditary Gastric Cancer in Korean
CONCLUSION: In the present study, the incidences of HGC were remarkably altered in accordance with study methods. Retrospective reviews of medical records revealed to be ineffective for this kind of study since their informations were often incomplete and some suspected patients were lost during follow-up. According to the Minimal Criteria of ICG-HGC, the incidence of true and suspected HGC was 3.1% (6 probands) and 11.3% (22 probands), respectively, out of 195 gastric cancer patients. We propose that families who meet the Minimal Criteria of ICG-HGC should be prospectively found in order to determine the exact incidence of HGC in Korean.
Source: Cancer Research and Treatment - November 14, 2014 Category: Cancer & Oncology Tags: Original Article Source Type: research

MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.
Authors: Clark N, Wu X, Her C Abstract The prominence of the human mismatch repair (MMR) pathway is clearly reflected by the causal link between MMR gene mutations and the occurrence of Lynch syndrome (or HNPCC). The MMR family of proteins also carries out a plethora of diverse cellular functions beyond its primary role in MMR and homologous recombination. In fact, members of the MMR family of proteins are being increasingly recognized as critical mediators between DNA damage repair and cell survival. Thus, a better functional understanding of MMR proteins will undoubtedly aid the development of strategies to effec...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics 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 - 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

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

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 - 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

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 - 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

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

Relationship between smoking and multiple colorectal cancers in patients with Japanese Lynch syndrome: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum
The positive correlation between smoking and cancer risk is well estimated in sporadic colorectal cancer, whereas little is known with regard to Lynch syndrome-associated colorectal cancer. A total of 118 familial colorectal cancer patients from the Hereditary Nonpolyposis Colorectal Cancer Registry and Genetic Testing Project of the Japanese Society for Cancer of the Colon and Rectum, were assessed to determine whether smoking alters the incidence of multiple colorectal cancers. In male patients with Lynch syndrome (n = 29), the incidence of multiple colorectal cancers in patients who had ever smoked (smoking duration: me...
Source: Japanese Journal of Clinical Oncology - February 25, 2015 Category: Cancer & Oncology Authors: Tanakaya, K., Furukawa, Y., Nakamura, Y., Hirata, K., Tomita, N., Tamura, K., Sugano, K., Ishioka, C., Yoshida, T., Ishida, H., Watanabe, T., Sugihara, K., for HNPCC registry and genetic testing project of the Japanese Society for Cancer of the Colon and Tags: Short Communication Source Type: research