Corporate Banner
Satellite Banner
RNAi
Scientific Community
 
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 3,300+ scientific posters on ePosters
  • More than 4,800+ 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

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
Investment In Cancer Research At Oxford University
Centre for Molecular Medicine to focus on cancer genomics and molecular diagnostics, through a partnership with the Chan Soon-Shiong Institute.
Friday, October 24, 2014
Genetic Tracking Identifies Cancer Stem Cells in Patients
The gene mutations driving cancer have been tracked for the first time in patients back to a distinct set of cells at the root of cancer – cancer stem cells.
Friday, May 16, 2014
Eating Organic Food Doesn't Lower Overall Cancer Risk
Women who always or mostly eat organic foods have the same likelihood of developing cancer as women who eat conventionally produced foods.
Tuesday, April 01, 2014
New Trial of Personalized Cancer Treatment Begins in Oxford
Phase I trial in Oxford will investigate a new drug, called CXD101.
Tuesday, March 18, 2014
Scientists Break Blood-Brain Barrier to Allow Cancer Drugs In
Oxford University scientists have found a way of delivering drugs more effectively to treat life-threatening cancers that have spread to the brain.
Tuesday, October 15, 2013
'Jekyll and Hyde' Protein Offers New Route to Cancer Drugs
The mood changes of a 'Jekyll-and-Hyde' protein, which sometimes boosts tumour cell growth and at other times suppresses it, have been explained.
Friday, September 27, 2013
Sex Hormones Linked to Breast Cancer Risk in Women Under 50
Premenopausal women with high levels of sex hormones in their blood have an increased risk of breast cancer, though further research is needed to understand this link.
Wednesday, July 24, 2013
One-two Combination Floors Cancer
A new tag-team approach to combating a type of skin cancer is showing early promise in the lab.
Wednesday, June 26, 2013
46 Gene Sequencing Test for Cancer Patients on the NHS
The first multi-gene test that can help predict cancer patients' responses to treatment using the latest DNA sequencing techniques has been launched in the NHS.
Wednesday, March 27, 2013
Genetic Cause of Insulin Sensitivity Offers Diabetes Clues
The first single gene cause of increased sensitivity to the hormone insulin has been discovered by a team of Oxford University researchers.
Friday, September 14, 2012
Probing What Fuels Cancer
Cancer is often described as a genetic disease, after all the transition a cell goes through in becoming cancerous tends to be driven by changes to the cell's DNA.
Monday, August 06, 2012
Scientific News
Liquid Biopsies: Miracle Diagnostic or Next New Fad?
Thanks to the development of highly specific gene-amplification and sequencing technologies liquid biopsies access more biomarkers relevant to more cancers than ever before.
Cancer Gene-Drug Combinations Ripe for Precision Medicine
The study aims to expand the number of cancer gene mutations that can be paired with a precision therapy.
Exploiting Malaria’s Achilles’ Heel
Researchers have uncovered an Achilles' heel in malaria's anti-drug treatment arsenal that could lead to a disease cure.
Targeting BRAF Mutations in Thyroid Cancer
Treating metastatic thyroid cancer patients harboring a BRAF mutation with vemurafenib showed anti-tumor activity in a third of patients.
Colon Cancer Blocked in Mice
Case Western Reserve University Researchers block common type of colon cancer tumour in mice, laying groundwork for human clinical trial.
Protein Nanocages Could Improve Drug Design and Delivery
HHMI scientists have designed and built 10 large protein icosahedra that are similar to viral capsids that carry viral DNA.
Cancer Related Immune Response Genes Uncovered
Researchers at the SBP have identified over 100 new genetic regions that affect the immune response to cancer.
New Therapeutic Targets For Small Cell Lung Cancer Identified
Researchers at UTSW Medical Center have identified a protein termed ASCL1 that is essential to the development of small cell lung cancer.
Liquid Biopsies Treating Ovarian Cancer
Researchers have discovered a promising monitor and treat recurrence of ovarian cancer. Detecting cancer long before tumours reappear.
Virus Inspired Cell Cargo Ships
Virus-inspired container design may lead to cell cargo ships following construction of ten large, two-component, icosahedral protein complexes.
SELECTBIO

SELECTBIO Market Reports
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
3,300+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!