New process for early cancer diagnosis found

16 August 2011

A reliable and cost-effective way of indentifying people with a cancer-causing genetic syndrome has been found, which could impact upon cancer diagnosis rates.

According to a study published in the American Journal of Managed Care, faults in the sequencing code for genes used to repair DNA can significantly increase the risk of urologic, uterine and pancreatic cancers in a condition known as Lynch syndrome.

A team at the Intermountain Clinical Genetics Institute in the US developed computer models to help gauge whether patients might be carriers of the faulty sequence and to reduce people needing expensive full genome sequencing, revealed Dr Marc S Williams, director of the Clinical Genetics Institute at LDS Hospital.

"Confirming the Lynch diagnosis changes the way we treat the disease. This form of colon cancer has a generally better prognosis than sporadic colon cancer, but it doesn't respond as well to certain kinds of chemotherapy," continued Dr Williams, claiming cancer treatment could be improved thanks to the screening process.

In similar research into cancer defects and gene sequencing, recent studies published in the journal Nature Genetics demonstrated how abnormalities in the RAD51 gene represented an increased risk of developing ovarian and breast cancer in women.

Posted Edward Bartel


1 Gudgeon, James M, et al., "Lynch Syndrome Screening Implementation: Business Analysis by a Healthcare System". American Journal of Managed Care. August 2011.

2 Loveday, Chey and Clare Turnbull, et al., "Germline mutations in RAD51D confer susceptibility to ovarian cancer". Nature Genetics. Sunday August 7th 2011.


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