A review on role of ATM gene in hereditary transfer of colorectal cancer.

A review on role of ATM gene in hereditary transfer of colorectal cancer. Acta Biomed. 2019 Jan 15;89(4):463-469 Authors: Sriramulu S, Ramachandran M, Subramanian S, Kannan R, Gopinath M, Sollaono J, Bissi L, Banerjee A, Marotta F, Pathak S Abstract Colorectal cancer found to be the most commonly occurring cancer worldwide which can be prevented by screening and its curable if diagnosed early. Lynch syndrome/HNPCC being an autosomal genetic disease and propensity in forming colorectal cancer is inherited wherein genomic instabilities and epigenetic changes are being the characteristic forms in hereditary cancers. It is very important to determine the polymorphism in several DNA repairing genes such as ATM, RAD51, XRCC2, XRCC3 and XRCC9 to study the risk exploring both the prognosis and the developing of colorectal cancer. The role of ATM gene has been studied which involves in the hereditary transfer of colorectal cancer associated with other related cancers such as stomach, lung and breast cancers. ATM found to be the mutation target and also a modifier gene with more risk of developing the disease by its polymorphism in variant of ATM D1853N. It was identified that ATM gene polymorphism did not drastically change HNPCC age of onset. ATM expression levels were studied and it has been concluded that the complete loss of ATM expression resulted in a propensity of worse survival and no better prognosis with increase in mortality rate. This ATM gene might b...
Source: Acta Bio-Medica : Atenei Parmensis - Category: General Medicine Authors: Tags: Acta Biomed Source Type: research

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ConclusionsThis case highlights the importance of genetic testing with rare malignancies because the full scope of phenotypic sequelae for known hereditary syndromes has not been mapped.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Introduction: Lynch syndrome or hereditary non-polyposis colon cancer (HNPCC) is inherited disorder in DNA mismatch repair genes which lead to microsatellite instability and increased risk of developing such cancers as colorectal, gastric, endometrial and others in relatively young adults under 50 years of age. Since genes who account for this syndrome have been identified and are transferred to next generations, many countries have launched a screening programme for selected patient groups to carry out prevention strategies.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Basic Science 5 – Oncology Source Type: research
Abstract Lynch syndrome (LS), an autosomal dominantly inherited disease previously known as hereditary non-polyposis colorectal cancer (HNPCC), leads to a high risk of colorectal cancer (CRC) as well as malignancy at certain sites including endometrium, ovary, stomach, and small bowel (Hampel et al., 2008; Lynch et al., 2009). Clinically, LS is considered the most common hereditary CRC-predisposing syndrome, accounting for about 3% of all CRC cases (Popat et al., 2005). LS is associated with mutations of DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM (Ligtenberg et al., 2009; Lynch et al...
Source: J Zhejiang Univ Sci ... - Category: Science Authors: Tags: J Zhejiang Univ Sci B Source Type: research
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 - Category: Surgery Tags: Acta Chir Belg Source Type: research
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 - Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research
Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers. A variety of other epithelial cancers may be associated with this syndrome, including ovarian, gastric, small bowel, hepatobiliary, renal, ureteral, skin, breast, prostate, and pancreatic cancers. Brain tumors are infrequent, but have been reported in series [1]. Individuals who have biallelic Lynch syndrome mutations in MLH1, MSH-2, MSH-6, or PMS-2 have a childhood-onset disorder now referred to as constitutional mismatch repair deficiency syndrome, in whic...
Source: Clinical Neurology and Neurosurgery - Category: Neurosurgery Authors: Tags: Case Report Source Type: research
In a recent note, I discused some theories about why the incidence of colonic cancer is increasing in younger patients (see:Why the Increased Incidence of Colonic Cancer Among Younger Americans?). Continuing in this same vein, a recent article I came across raised the issue of multigene panel testing to reveal genetic mutations in the roughly one-third of patents with early onset colonic cancer (see:Multigene Panel Testing Reveals Mutations in One-Third of Early Onset CRC Patients). Below is an excerpt from the article:Although the overall incidence of colorectal cancer (CRC) has been decreasing in the Unite...
Source: Lab Soft News - Category: Laboratory Medicine Authors: Tags: Clinical Lab Industry News Clinical Lab Testing Lab Industry Trends Lab Processes and Procedures Medical Research Preventive Medicine Source Type: blogs
This document presents the official recommendations of the American Gastroenterological Association (AGA) Institute on the diagnosis and management of Lynch syndrome. Lynch syndrome (previously referred to as hereditary nonpolyposis colorectal cancer syndrome) is the most common heritable colorectal cancer syndrome, accounting for 2% to 3% of colorectal cancers, and has an estimated prevalence in the general population of 1 in 440. Patients with Lynch syndrome have an estimated lifetime cumulative incidence of colorectal cancer up to 80% and endometrial cancer up to 60% and also have increased risks of other cancers, ...
Source: Gastroenterology - Category: Gastroenterology Authors: Tags: AGA Section Source Type: research
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 pathogenetic s...
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
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 characteri...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
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