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Total 244 results found since Jan 2013.

PD-L1 expression in HNPCC-associated colorectal cancer
Conclusion A subset of HNPCC-associated colorectal cancers in this study clearly showed PD-L1 expression of tumor epithelia and immune cells, therefore, the detection of PD-L1 status is useful.
Source: Pathology Research and Practice - September 19, 2017 Category: Pathology Source Type: research

New | phs001407.v1.p1 | HNPCC-Sys: Molecular Characterization of Lynch Syndromes
HNPCC-Sys: Molecular Characterization of Lynch Syndromes  (study page |release notes)
Source: dbGaP, the database of Genotypes and Phenotypes - September 18, 2017 Category: Genetics & Stem Cells Tags: StudyRelease Source Type: research

PD-L1 expression in HNPCC-associated colorectal cancer.
CONCLUSION: A subset of HNPCC-associated colorectal cancers in this study clearly showed PD-L1 expression of tumor epithelia and immune cells, therefore, the detection of PD-L1 status is useful. PMID: 29033182 [PubMed - as supplied by publisher]
Source: Pathology, Research and Practice - September 18, 2017 Category: Pathology Authors: Shiraliyeva N, Friedrichs J, Buettner R, Friedrichs N Tags: Pathol Res Pract Source Type: research

High-risk family colorectal cancer screening service in Ireland: Critical review of clinical outcomes
Conclusion Male gender and age (>50) were the core identifiable risk factors for neoplasia at screening colonoscopy in this family screening setting. Our results would support less intensive surveillance in younger patients (<50), particularly where index colonoscopy is normal.
Source: Cancer Epidemiology - August 5, 2017 Category: Cancer & Oncology Source Type: research

Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).
Authors: Nallamilli BRR, Hegde M Abstract Hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC) and increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. Lynch syndrome accounts for up to 3% of all CRC, making it the most common hereditary colorectal cancer syndrome. Germline mutations in methyl-directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA. Lynch synd...
Source: Current Protocols in Human Genetics - July 12, 2017 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research

Expending Role of Microsatellite Instability in Diagnosis and Treatment of Colorectal Cancers
ConclusionsMany experts and professional authorities have recommended a universal MSI testing in all individuals newly diagnosed with colorectal cancers.
Source: Journal of Gastrointestinal Cancer - July 11, 2017 Category: Cancer & Oncology Source Type: research

Significance of the monitoring and screening for hereditary nonpolyposis colorectal carcinoma syndrome patients by presenting a case of a family tree.
Abstract INTRODUCTION: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant disease, which shows familial clustering. AIM: We would like to emphasize the importance of monitoring the HNPCC syndrome patients by presenting a case of a proven MMR gene mutation carrier and her family tree encompassing 10 years. MATERIALS AND METHOD: To screen a suspected HNPCC Hungarian family member we are taking thorough family histories. If the diagnosis of HNPCC was further supported by immunohistology and the microsatellite status, sequencing of the MMR genes was carried out. RESULTS: A nov...
Source: Orvosi Hetilap - July 1, 2017 Category: General Medicine Authors: Kóder G, Olasz J, Tóth L, Urbancsek H, András C, Bubán T, Palatka K, Damjanovich L, Tanyi M Tags: Orv Hetil Source Type: research

Validation of microsatellite instability histology scores with Bethesda guidelines in hereditary nonpolyposis colorectal cancer
Conclusions: The MSI scoring systems, MsPath, and PathScore, are reliable systems and effectively correlated with BG for predicting patients who need advanced analysis techniques because of the risk of HNPCC.
Source: Journal of Cancer Research and Therapeutics - June 23, 2017 Category: Cancer & Oncology Authors: Mustafa Kaya Fatih Basak Abdullah Sisik Mustafa Hasbahceci Gurhan Bas Orhan Alimoglu Cumhur Sel & #231;uk Topal Gozde Kir Source Type: research

Universal tumor screening for Lynch syndrome: health-care providers ’ perspectives
Universal tumor screening for Lynch syndrome: health-care providers’ perspectives Genetics in Medicine 19, 568 (May 2017). doi:10.1038/gim.2016.150 Authors: Yvonne Bombard, Linda Rozmovits, Anne Sorvari, Corinne Daly, June C. Carroll, Erin Kennedy, Linda Rabeneck & Nancy N. Baxter
Source: Genetics in Medicine - May 11, 2017 Category: Genetics & Stem Cells Authors: Yvonne Bombard Linda Rozmovits Anne Sorvari Corinne Daly June C. Carroll Erin Kennedy Linda Rabeneck Nancy N. Baxter Tags: consent HNPCC Lynch syndrome reflex testing universal tumor screening Source Type: research

Su1215 Video Capsule Endoscopy in Patients With Muir-Torre Syndrome
Muir-Torre Syndrome (MTS) is a rare, primarily autosomal dominant disorder that is distinguished by having sebaceous skin malignancies in addition to visceral malignancies. The most common form of MTS is a variant of HNPCC. The cause of MTS appears to be germline mutations in the DNA mismatch repair genes, specifically MLH1, MSH2, and MSH6. Our aim in this study is to demonstrate the utilization of VCE in patients with MTS as a screening procedure.
Source: Gastrointestinal Endoscopy - April 28, 2017 Category: Gastroenterology Authors: Erik A. Holzwanger, Yasir AL-Azzawi, David R. Cave Tags: Sunday – ASGE poster Source Type: research

The 116G   >  A MSH6 and IVS1-1121C  >  T PMS2 Genes Polymorphisms Modulate the Risk of the Sporadic Colorectal Cancer Development in Polish Population.
In conclusion, our data suggests thatMSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in polish population. Linkage to the female gender, onset above 60 years old and further increase of risk when combined with wild-type allele of PMS2 IVS1-1121C > T polymorphism indicates defective mismatch repair system. PMID: 28451866 [PubMed - as supplied by publisher]
Source: Pathology Oncology Research - April 27, 2017 Category: Pathology Authors: Zelga P, Przybyłowska-Sygut K, Zelga M, Dziki A, Majsterek I Tags: Pathol Oncol Res Source Type: research

Outcome of 24 years national surveillance in different hereditary colorectal cancer subgroups leading to more individualised surveillance
Conclusions The risk of CRC in Lynch families is considerable, despite biannual surveillance. We suggest less frequent and more individualised surveillance in non-Lynch families. Individuals from families with a strong history of CRC could be offered 5-year surveillance colonoscopies (unless findings at the preceding surveillance session indicate shorter interval) and individuals from moderate-risk families could be handled with the population-based screening programme for CRC after an initial surveillance colonoscopy.
Source: Journal of Medical Genetics - April 24, 2017 Category: Genetics & Stem Cells Authors: Lindberg, L. J., Ladelund, S., Frederiksen, B. L., Smith-Hansen, L., Bernstein, I. Tags: Screening 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 - April 13, 2017 Category: Cancer & Oncology Tags: Original Article Source Type: research

Differential indications for ileoanal pouch anastomosis : Ulcerative colitis, familial adenomatous polyposis, synchronous colorectal cancer - Crohn's disease, constipation.
Abstract Ileoanal pouch anastomosis is the procedure of choice for patients with drug refractory ulcerative colitis, indeterminate colitis and familial adenomatous polyposis (FAP). In selected patient groups this procedure is a treatment option for patients with Crohn's disease, hereditary nonpolyposis colorectal cancer (HNPCC), synchronous colorectal cancer and for severe colorectal constipation refractory to conservative drug treatment. The pouch procedure provides the opportunity to avoid a permanent ileostomy. The majority of surgeons prefer the ileal J‑pouch as the construction is the easiest to perform an...
Source: Der Chirurg - April 12, 2017 Category: Surgery Authors: Fürst A Tags: Chirurg Source Type: research

Abstract B07: Molecular characterization of colorectal cancer in West Africans
Conclusion: In this dataset of relatively young onset CRC cases, a large percentage of cases are of the HNPCC subtype. Use of IHC as a universal screening test for all CRC cases, as well as follow-up referral for genetic counseling, could be an innovative approach to CRC cancer control in the population.Citation Format: Aliyu Lawan, Galina Khramtsova, David Irabor, Mustapha Ajani, Lise Sveen, Yusuf M. Abdullah, Henry O. Ebili, Umar Saad, John O. Ogunbiyi, Olufunmilayo I. Olopade, Abideen O. Oluwasola. Molecular characterization of colorectal cancer in West Africans. [abstract]. In: Proceedings of the AACR Special Conferenc...
Source: Cancer Research - January 30, 2017 Category: Cancer & Oncology Authors: Aliyu Lawan, Galina Khramtsova, David Irabor, Mustapha Ajani, Lise Sveen, Yusuf M. Abdullah, Henry O. Ebili, Umar Saad, John O. Ogunbiyi, Olufunmilayo I. Olopade, Abideen O. Oluwasola Tags: Molecular Diagnostics Source Type: research