Monday, 18 February 2013

Oxford researchers locate high-risk genes for bowel cancer

Research carried out by Oxford University's Wellcome Trust Centre and Cancer Research UK has linked two faulty genes with the development of bowel cancer within families.

Oxford University researchers have located two genetic faults which increase the risk of individuals with a history of bowel cancer in the family developing it themselves.

The research was carried out by the Wellcome Trust Centre for Human Genetics in Oxford and Cancer Research UK, and established a high correlation between bowel cancer development and mutations in two specific genes, POLE and POLD1, which are involved in the DNA repairing processes.

The research found that defects in these genes can cause an accumulation of DNA damage in the body that may contribute to bowel cancer.

The Cancer Research UK-funded project selected twenty people as study subjects, eight of which had previously been diagnosed with bowel cancer whilst the rest had a first-degree relative who developed the illness. After sequencing the genomes of the 20 participants, the scientists found both of the faulty genes in all subjects with bowel cancer or malignant tumours in the bowel.

To further consolidate the result, the research team broadened their inspection base to 4000 people with bowel cancer and a control group of 6700 without the disease. Not a single case of genetic deficiencies in POLE or POLD1 was found in the control group, while the researchers found 12 people with POLE fault and one person with POLD1 fault in the bowel cancer group.

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