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Rare genetic faults identified in families with bowel cancer
http://feeds.sciencedaily.com/~r/sciencedaily/~3/pbRsb_OZ3Cs/121230175927.htm
Dec 30th 2012, 22:59

Dec. 30, 2012 — 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 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.
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The above story is reprinted from materials provided by University of Oxford.
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Journal Reference:
Claire Palles, Jean-Baptiste Cazier, Kimberley M Howarth, Enric Domingo, Angela M Jones, Peter Broderick, Zoe Kemp, Sarah L Spain, Estrella Guarino Almeida, Israel Salguero, Amy Sherborne, Daniel Chubb, Luis G Carvajal-Carmona, Yusanne Ma, Kulvinder Kaur, Sara Dobbins, Ella Barclay, Maggie Gorman, Lynn Martin, Michal B Kovac, Sean Humphray, Huw J W Thomas, Eamonn Maher, Gareth Evans, Anneke Lucassen, Carole Cummings, Margaret Stevens, Lisa Walker, Dorothy Halliday, Ruth Armstrong, Joan Paterson, Shirley Hodgson, Tessa Homfray, Lucy Side, Louise Izatt, Alan Donaldson, Susan Tomkins, Patrick Morrison, Selina Goodman, Carole Brewer, Alex Henderson, Rosemarie Davidson, Victoria Murday, Jaqueline Cook, Neva Haites, Timothy Bishop, Eamonn Sheridan, Andrew Green, Christopher Marks, Sue Carpenter, Mary Broughton, Lynn Greenhalge, Mohnish Suri, Peter Donnelly, John Bell, David Bentley, Gilean McVean, Peter Ratcliffe, Jenny Taylor, Andrew Wilkie, Peter Donnelly, John Broxholme, David Buck, Jean-Baptiste Cazier, Richard Cornall, Lorna Gregory, Julian Knight, Gerton Lunter, Gilean McVean, Jenny Taylor, Ian Tomlinson, Andrew Wilkie, David Buck, Lorna Gregory, Sean Humphray, Zoya Kingsbury, Gilean McVean, Peter Donnelly, Jean-Baptiste Cazier, John Broxholme, Russell Grocock, Edouard Hatton, Christopher C Holmes, Linda Hughes, Peter Humburg, Alexander Kanapin, Gerton Lunter, Lisa Murray, Andy Rimmer, Anneke Lucassen, Christopher C Holmes, David Bentley, Peter Donnelly, Jenny Taylor, Christos Petridis, Rebecca Roylance, Elinor J Sawyer, David J Kerr, Susan Clark, Jonathan Grimes, Stephen E Kearsey, Huw J W Thomas, Gilean McVean, Richard S Houlston, Ian Tomlinson. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nature Genetics, 2012; DOI: 10.1038/ng.2503



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