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Total 244 results found since Jan 2013.

Abstract 3902: MSS HNPCC frequently contain CNVs in chromatin regulators
CONCLUSIONS: Genetic aberrations in chromatin remodeling could contribute to the development of MSS HNPCCs.Note: This abstract was not presented at the meeting.Citation Format: WeiXiang Chen, Xia sheng, Jun Ding. MSS HNPCC frequently contain CNVs in chromatin regulators. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 3902. doi:10.1158/1538-7445.AM2015-3902
Source: Cancer Research - August 2, 2015 Category: Cancer & Oncology Authors: Chen, W., sheng, X., Ding, J. Tags: Molecular and Cellular Biology Source Type: research

Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study
Conclusion Although the overall risk in FDRs of CRC patients in our study was comparable with the results of previous studies, the risk in families with multiple relatives with CRC or one CRC patient diagnosed young may be lower than reported previously.
Source: Cancer Epidemiology - July 27, 2015 Category: Cancer & Oncology Source Type: research

Papillary thyroid carcinoma (PTC) in Lynch syndrome: Report of two cases and discussion on Lynch syndrome behaviour and genetics
We present here two cases of papillary thyroid carcinoma (PTC) in patients affected by Lynch syndrome (LS). The first case is a 47-year-old woman with typical hereditary non-polyposis colorectal cancer (HNPCC) syndrome, reported with endometrial and ovarian carcinoma at age 43, and colon cancer at age 45. The patient underwent total thyroidectomy and central node dissection in 2007, at 47years old, with a histological diagnosis of PTC (T1aN1a). Molecular genetics showed a germ-line mutation of the MLH1 gene, 1858 G>T(E620X), with substitution of glycine with a stop codon at position 620. This mutation has pathogenet...
Source: Biomedicine and Pharmacotherapy - July 27, 2015 Category: Drugs & Pharmacology Source Type: research

Intraductal papillary mucinous neoplasm of the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer: A case report.
We report a case of intraductal papillary mucinous neoplasm (IPMN) originating from the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer (HNPCC). A 49-year-old woman had a past history of total colectomy and total hysterectomy with bilateral salpingo-oophorectomy due to colonic adenocarcinoma and endometrial adenocarcinoma 11 years ago. Her parents died from colonic adenocarcinoma and her sister died from colonic adenocarcinoma and endometrial adenocarcinoma. The clinician found an ileal mass with necrotic change and the mass increased in size from 1.7 cm to 2.2 cm during the past 2 y...
Source: World Journal of Gastroenterology : WJG - July 7, 2015 Category: Gastroenterology Authors: Lee SH, Kim WY, Hwang DY, Han HS Tags: World J Gastroenterol Source Type: research

Muir-Torre Syndrome and founder Mismatch Repair genes mutations: A long gone historical genetic challenge.
Abstract A "cancer predisposing syndrome" later labeled as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, was firstly described by Warthin, about one century ago. An increased predisposition to the development of multiple familial tumors is described as characteristic of this syndrome where visceral and cutaneous malignancies may appear at an early age namely endometrial, gastric, small bowel, ureteral and renal pelvis, ovarian, hepatobiliary tract, pancreatic, brain (Turcot Syndrome) and sebaceous glands (Muir-Torre Syndrome). The latter, a variant of Lynch Syndrome, is characterized by the...
Source: Gene - July 1, 2015 Category: Genetics & Stem Cells Authors: Ponti G, Manfredini M, Tomasi A, Pellacani G Tags: Gene Source Type: research

Epidemioclinical Feature of Early-Onset Colorectal Cancer at-Risk for Lynch Syndrome in Central Iran.
CONCLUSIONS: Given the high prevalence of FCC (~1/4 of early-onset Iranian CRC patients), it is necessary to establish a comprehensive cancer genetic counseling and systematic screening program for early detection and to improve cancer prognosis among high risk families. PMID: 26107218 [PubMed - in process]
Source: Asian Pacific Journal of Cancer Prevention - June 26, 2015 Category: Cancer & Oncology Tags: Asian Pac J Cancer Prev Source Type: research

Epigenetics could explain some Moroccan population colorectal cancers peculiarities: microsatellite instability pathway exploration
Conclusions: These results confirm the high occurrence of CRCs to young patients and the high frequency of rectal localizations in Moroccan population. They mostly show an absence of BRAF mutation, supposing a rarity of MLH1 promoter hypermethylation pathway, which may even partially explain the CRC peculiarities in our context.Virtual SlidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5868184711716884
Source: Diagnostic Pathology - June 24, 2015 Category: Pathology Authors: Mohammed SekalHassania AmeurtesseLaila ChbaniKarim OuldimSanae BennisMohammed AbkariAmal BoulouzDafr BenajahBasher BenjellounAbdelmalek OusaddenKhalid Ait TalebSaid Ait LaalimImane ToghraiKhalid MazazSamia ArifiNawfel MellasKarima El RhaziTaoufiq Harmouch Source Type: research

Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions
We report a family with an MSH2 mutation c.1126_1127delTT (p.Leu376Thrfs*12). A 46‐year‐old male proband developed KA with sebaceous differentiation, colon cancer and gastric cancer, and fulfilled the diagnostic criteria for MTS. His 80‐year‐old mother, diagnosed with HNPCC, presented with multiple gastrointestinal tract cancers, Bowen's disease and actinic keratosis. Immunostaining revealed attenuated MSH2 protein expression in KA, as well as in Bowen's disease and actinic keratosis lesions. These findings suggest that MMR gene abnormality is also critical in the development of benign or malignant cutaneous tumors...
Source: The Journal of Dermatology - June 16, 2015 Category: Dermatology Authors: Naohito Hatta, Akiko Takata, Shin Ishizawa, Yo Niida Tags: Concise Communication Source Type: research

Survival in familial colorectal cancer: a Danish cohort study
Abstract The monogenic Lynch syndrome (LS) is associated with better survival in colorectal cancer (CRC) patients. Whether family history of CRC affects CRC prognosis in general remains unclear. We evaluated overall mortality in a Danish cohort of CRC patients comparing patients with a family history (FHpos) to those without (FHneg) with focus on patients from non-syndromic families, thus FHpos patients were further divided into a non-syndromic group (FHNS) and a HNPCC/LS group (FHHNPCC). We included CRC patients diagnosed 1995–1998. First degree relatives were identified using Danish population registries and f...
Source: Familial Cancer - May 11, 2015 Category: Cancer & Oncology Source Type: research

Segmental vs extended colectomy in the management of hereditary nonpolyposis colorectal cancer: a systematic review and meta‐analysis
ConclusionThe optimal surgical approach in the management of HNPCC remains unclear. More adenomas and cancers occur after SC than after TC but there certainly is no evidence to suggest that more radical surgery leads to improved survival.
Source: Colorectal Disease - April 21, 2015 Category: Gastroenterology Authors: H. M. Heneghan, S. T. Martin, D. C. Winter Tags: Systematic Review Source Type: research

HNPCC-Associated Pheochromocytoma: Expanding the Tumor Spectrum
No abstract available
Source: Pancreas - April 17, 2015 Category: Gastroenterology Tags: Letters to the Editor Source Type: research

Hereditary Non-polyposis Colorectal Cancer: Prevention and Therapeutic Options
Abstract Lynch syndrome (LS), also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common hereditary colorectal cancer (CRC) syndrome. The first and foremost preventive measure is to identify patients with LS among CRC patients. This requires the screening of colorectal cancer through polymerase chain reaction-based microsatellite instability (MSI) testing or immunohistochemistry to look for a loss of expression of one of the mismatch repair (MMR) proteins and the referral of selected patients to genetic counseling. In LS patients, annual or biannual complete colonoscopy with chromoendosco...
Source: Current Colorectal Cancer Reports - March 19, 2015 Category: Cancer & Oncology Source Type: research

Resources to increase genetics and genomics capacity of oncology nurses.
Abstract Since the completion of the Human Genome Project (HGP) in 2003, the understanding of genetics and its influence on disease, particularly cancer, has increased dramatically. The initial focus after the completion of HGP was on identifying single-gene disorders, such as many hereditary cancer syndromes (e.g., BRCA1, BRCA2, HNPCC). As research continues, the major impact that genetics and genomics have across the healthcare continuum is only beginning to become clear (Pestka, Burbank, & Junglen, 2010; Thompson & Brooks, 2011). More specifically, genetics and genomics play a role in disease risk and p...
Source: Oncology Nursing Forum - March 1, 2015 Category: Nursing Authors: Aiello LB Tags: Oncol Nurs Forum 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

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 defined ...
Source: Journal of Comparative Pathology - February 13, 2015 Category: Pathology Source Type: research