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

Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes —A systematic review
Familial Colorectal Cancer Type X (FCCTX) is a type of hereditary nonpolyposis colorectal cancer in accordance to Amsterdam criteria-1 for Lynch syndrome, with no related mutation in mismatch repair gene. FCCTX is microsatellite stable and is accounted for 40% of families with Amsterdam criteria-1 with a high age of onset. Thus, the carcinogenesis of FCCTX is different compared to Lynch syndrome. In addition to the microsatellite stability and the presence of less predominant tumors in proximal colon, various clinical features have also been associated with FCCTX in comparison with Lynch syndrome such as no increased risk ...
Source: Current Problems in Cancer - October 17, 2017 Category: Cancer & Oncology Authors: Mahdieh Nejadtaghi, Hamideh Jafari, Effat Farrokhi, Keihan Ghatreh Samani 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)
Source: Medicine - October 1, 2017 Category: Internal Medicine Tags: Research Article: Systematic Review and Meta-Analysis Source Type: research

Lynch syndrome and sextuple primary malignancies.
This article presents a rare clinical of a 61-year-old female diagnosed with extracolonic Lynch syndrome with six metachronous tumours acquiring in digestive tract during the period from 1993 to 2014 (over 21 years). No other cases of six primary malignancies in patient with Lynch syndrome have been reported in literature. Upon diagnosis of Lynch syndrome, it is important to screen patient for malignancies of different localization as this syndrome predisposes appearance of various cancers at earlier age than in general population. PMID: 28938854 [PubMed - as supplied by publisher] (Source: Acta Chirurgica Belgica)
Source: Acta Chirurgica Belgica - September 26, 2017 Category: Surgery Tags: Acta Chir Belg 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. (Source: Pathology Research and Practice)
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)
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)
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

Committee Opinion No. 716 Summary: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk.
Authors: Abstract Ovarian cancer is the second most common type of female reproductive cancer, and more women die from ovarian cancer than from cervical cancer and uterine cancer combined. Currently, there is no strategy for early detection of ovarian cancer that reduces ovarian cancer mortality. Taking a detailed personal and family history for breast, gynecologic, and colon cancer facilitates categorizing women based on their risk (average risk or high risk) of developing epithelial ovarian cancer. Women with a strong family history of ovarian, breast, or colon cancer may have hereditary breast and ovari...
Source: Obstetrics and Gynecology - August 25, 2017 Category: OBGYN Tags: Obstet Gynecol 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)
Source: Cancer Epidemiology - August 5, 2017 Category: Cancer & Oncology Source Type: research

Polymorphisms of xenobiotic ‐metabolizing genes and colorectal cancer risk in patients with lynch syndrome: A retrospective cohort study in Taiwan
This study investigated whether CYP, GST, and NAT single nucleotide polymorphisms (SNPs) are associated with colorectal cancer (CRC) in patients with Lynch syndrome. The interaction between these SNPs and cigarette smoking or meat consumption was also explored. We identified 270 patients with Lynch syndrome from the Taiwan Hereditary Nonpolyposis Colorectal Cancer Consortium. A weighted Cox proportional hazard model was used to calculate the hazard ratios (HRs) and 95% confidence interval (CIs). The GSTA1 rs3957356 TT (HR = 5.36, 95% CI = 2.39–12.0) and CYP1B1 rs1056836 CC (HR = 7.24, 95% CI = 3.51–14.9...
Source: Environmental and Molecular Mutagenesis - July 17, 2017 Category: Molecular Biology Authors: Abram Bunya Kamiza, Jeng ‐Fu You, Wen‐Chang Wang, Reiping Tang, Chun‐Yu Chang, Huei‐Tzu Chien, Chih‐Hsiung Lai, Li‐Ling Chiu, Tsai‐Ping Lo, Kuan‐Yi Hung, Chao A. Hsiung, Chih‐Ching Yeh Tags: Research Article 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. L...
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)
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. ...
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)
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)
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