Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Rare Genetic Faults Identified in Families with Bowel Cancer

Published: Friday, January 04, 2013
Last Updated: Friday, January 04, 2013
Bookmark and Share
The findings are published in the journal Nature Genetics.

Rare DNA faults in two genes have been strongly linked to bowel cancer by Oxford University researchers, who sequenced the genomes of people from families with a strong history of developing the disease.

The researchers sequenced the entire DNA genomes of 20 people from families with a strong history of bowel cancer. Eight of the 20 people had developed bowel cancer, while the rest had a first-degree relative who had developed the disease.

They found that everyone who had a faulty POLE or POLD1 gene developed bowel cancer or had a precancerous growth in the bowel.

To confirm their findings they then looked for faults in these two genes in almost 4,000 people with bowel cancer, and 6,700 people without the disease.

Neither of the genetic faults was found in people without bowel cancer. However, 12 people with a fault in the POLE gene were found in the bowel cancer group, and one person had a POLD1 gene fault.

The POLD1 fault was also found to increase the risk of getting womb cancer and possibly brain cancer, with seven people in the study being diagnosed with womb cancer and one developing two brain tumours.

Professor Ian Tomlinson, who led the research at the Wellcome Trust Centre for Human Genetics at Oxford University, said: 'These are two rare faults, but if you inherit them your chance of bowel cancer is high. By testing people with a strong family history of the disease for these, we can identify those who are at high risk and try to prevent the disease by using colonoscopy and other methods.'

POLE and POLD1 are genes involved in processes that repair damage to DNA. Without these genes functioning properly, affected individuals can build up damage in their DNA which accumulates and it is thought this may lead to changes that cause bowel cancer.

'This research highlights how much more we still have to find out about the rare gene faults that can increase a person’s risk of bowel cancer,' said Dr Julie Sharp, senior science information manager at Cancer Research UK, which part-funded the work.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,000+ scientific posters on ePosters
  • More Than 4,500+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Biomarker Discovery Offers Hope For New TB Vaccine
A team of scientists led by Oxford University have made a discovery that could improve our chances of developing an effective vaccine against Tuberculosis.
Tuesday, April 12, 2016
Novel Collagen Fingerprinting Identifies A Neanderthal
Study from the universities of Oxford and Manchester uses ZooMS technique to identify traces of an extinct human.
Friday, April 01, 2016
Origin of a Species
A study by researchers at the Wellcome Trust Centre for Human Genetics at Oxford University has uncovered the key role played by a single gene in how groups of animals diverge to form new species.
Monday, February 15, 2016
HIV Keeps Growing, Even When Undetectable
A team of international researchers including scientists from Oxford University has found that HIV is still replicating in lymphoid tissue even when it is undetectable in the blood of patients on antiretroviral drugs.
Friday, January 29, 2016
Bacterial Superglue for Faster Vaccine Development
An interdisciplinary team of Oxford University researchers has devised a new technique to speed up the development of novel vaccines.
Wednesday, January 20, 2016
Millions at Risk of Little Known Deadly Tropical Disease
Melioidosis, a difficult to diagnose deadly bacterial disease, is likely to be present in many more countries than previously thought.
Tuesday, January 12, 2016
Identifying Drug Resistance Traits
Scientists have developed an easy-to-use computer program that can quickly analyse bacterial DNA from a patient's infection and predict which antibiotics will work, and which will fail due to drug resistance.
Tuesday, December 22, 2015
Faster, Cheaper TB Diagnosis
Whole Genome Sequencing is a faster, cheaper and more effective way of diagnosing tuberculosis says a new study.
Wednesday, December 09, 2015
Why we Still Don’t Have Personalised Medicine
15 years after sequencing the human genome we still do not have the promised personalised medicine, why is this?
Friday, December 04, 2015
The Secret Behind the Power of Bacterial Sex
Migration between different communities of bacteria is the key to the type of gene transfer that can lead to the spread of traits such as antibiotic resistance, according to researchers at Oxford University.
Tuesday, November 24, 2015
Seeking the Right Prescription in Fight Against Antibiotic Resistance
Researchers at the University of Oxford have received funding to look at ways to improve the prescribing of antibiotics.
Monday, November 23, 2015
£17M Project Launched to Develop HIV Vaccine
A new €23 million (£17 million) initiative to accelerate the search for an effective HIV vaccine has begun.
Wednesday, November 11, 2015
Blocking the Transmission Of Malaria Parasites
Vaccine candidate administered for the first time in humans in a phase I clinical trial led by Oxford University’s Jenner Institute, with partners Imaxio and GSK.
Tuesday, November 10, 2015
Mini DNA Sequencer’s Data Belies its Size
A miniature DNA sequencing device that plugs into a laptop and was developed by Oxford Nanopore has been tested by an open, international consortium, including Oxford University researchers.
Tuesday, October 20, 2015
Microbe Artwork Shows The Limits Of Antibiotics
An Oxford University research fellow has been creating art using bacteria found in the human gut and harvested from faecal samples.
Tuesday, September 29, 2015
Scientific News
AACR 2016: Cancer Immunotherapy and Beyond
At this year's meeting there was a palpable buzz around subjects ranging from microbiomics to the tumor microenvironment and cancer vaccines, big data to in vitro and in vivo modeling and drug delivery (to name just a few).
How Skeletal Stem Cells Form The Blueprint Of The Face
USC researchers discover that two types of molecular signals work to control where and when stem cells turn into facial cartilage.
Intestinal Worms Boost Immune System In A Surprising Way
EPFL researchers find that intestinal worm infections cause lymph nodes to produce more immune cells as well as grow in size.
Measuring The Airborne Toxicants Urban Bicyclists Inhale
Researchers analyze breath biomarkers to measure uptake of volatile organic compounds by bicyclists.
Breast Milk Hormones Impact Bacteria In Infants’ Guts
Intestinal microbiome of children born to obese mothers significantly different from those born to mothers of healthy weight, CU Anschutz researchers find.
Newborn Screening Test Developed For Rare, Deadly Neurological Disorder
Scientists have developed a new dried blood spot screening test for Niemann-Pick type C, with goal to speed diagnosis and treatment.
'Kidney on a Chip' Facilitates Safer Drug Dosing
University of Michigan researchers have used a "kidney on a chip" device to mimic the flow of medication through human kidneys and measure its effect on kidney cells.
New Autism Blood Biomarker Identified
Researchers at UT Southwestern Medical Center have identified a blood biomarker that may aid in earlier diagnosis of children with autism spectrum disorder, or ASD.
New Method Allows First Look At Embryo Implantation
Researchers at The Rockefeller University develop a method that shows the molecular and cellular processes that occur up to day 14 after fertilization.
Shining A Light On Bladder Cancer
Researchers scrutinize patterns of mutations in bladder tumor genomes, gleaning insights into the roles of DNA repair and tobacco-related DNA damage.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,500+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!