Rare genetic faults identified in families with bowel cancer

December 24, 2012, Oxford University
Rare genetic faults identified in families with bowel cancer

(Medical Xpress)—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. The findings are published in the journal Nature Genetics.

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 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 , with seven people in the study being diagnosed with and one developing two

Professor Ian Tomlinson, who led the research at the Wellcome Trust Centre for 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 ,' said Dr Julie Sharp, senior science information manager at Cancer Research UK, which part-funded the work. 

Explore further: Scientists discover how iron levels and a faulty gene cause bowel cancer

More information: Palles, C et al Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas, Nature Genetics (2012)

Related Stories

Scientists discover how iron levels and a faulty gene cause bowel cancer

August 9, 2012
High levels of iron could raise the risk of bowel cancer by switching on a key pathway in people with faults in a critical anti-cancer gene, according to a study published in Cell Reports today.

Gene link to higher rates of bowel cancer in men

June 1, 2012
(Medical Xpress) -- Scientists have shown for the first time that one of the sex chromosomes is involved in the development of a cancer that can afflict both genders, according to a Cancer Research UK-funded study in Nature ...

Researchers discover genes involved in colorectal cancer

November 6, 2011
A jumping gene with the fairy tale name "Sleeping Beauty" has helped to unlock vital clues for researchers investigating the genetics of colorectal cancer.

Scientists prove regular aspirin intake halves cancer risk

October 28, 2011
Scientists including those from Queen's University have discovered that taking regular aspirin halves the risk of developing hereditary cancers.

Recommended for you

Single blood test screens for eight cancer types

January 18, 2018
Johns Hopkins Kimmel Cancer Center researchers developed a single blood test that screens for eight common cancer types and helps identify the location of the cancer.

Researchers find a way to 'starve' cancer

January 18, 2018
Researchers at Vanderbilt University Medical Center (VUMC) have demonstrated for the first time that it is possible to starve a tumor and stop its growth with a newly discovered small compound that blocks uptake of the vital ...

How cancer metastasis happens: Researchers reveal a key mechanism

January 18, 2018
Cancer metastasis, the migration of cells from a primary tumor to form distant tumors in the body, can be triggered by a chronic leakage of DNA within tumor cells, according to a team led by Weill Cornell Medicine and Memorial ...

Modular gene enhancer promotes leukemia and regulates effectiveness of chemotherapy

January 18, 2018
Every day, billions of new blood cells are generated in the bone marrow. The gene Myc is known to play an important role in this process, and is also known to play a role in cancer. Scientists from the German Cancer Research ...

These foods may up your odds for colon cancer

January 18, 2018
(HealthDay)—Chowing down on red meat, white bread and sugar-laden drinks might increase your long-term risk of colon cancer, a new study suggests.

The pill lowers ovarian cancer risk, even for smokers

January 18, 2018
(HealthDay)—It's known that use of the birth control pill is tied to lower odds for ovarian cancer, but new research shows the benefit extends to smokers or women who are obese.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.