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Human Clinical Embryology and Assisted Conception MSc


Blood test could detect and locate cancer at early stage

13 March 2017

By Dr Loredana Guglielmi

Appeared in BioNews 892

Researchers have developed a new blood test that can not only detect cancer at an early stage, but can also indicate where the tumour is located in the body.

So-called 'liquid biopsies' detect fragments of tumour DNA called cell-free DNA (cfDNA), but until now they have only been able to detect the presence or absence of a tumour.

Professor Kun Zhang of the University of California, San Diego, and colleagues found that normal cells that compete with cancer cells for nutrients and space also release their DNA in the bloodstream. This DNA leaves organ-specific signatures – known as CpG methylation haplotypes – that could help doctors determine which part of the body has been invaded with cancer.

'We made this discovery by accident. Initially, we were taking the conventional approach and just looking for cancer cell signals and trying to find out where they were coming from. But we were also seeing signals from other cells and realised that if we integrate both sets of signals together, we could actually determine the presence or absence of a tumour, and where the tumour is growing,' Professor Zhang said.

The researchers generated a comprehensive database of tissue-specific signatures for ten different tissues (liver, intestine, colon, lung, brain, kidney, pancreas, spleen, stomach and blood). They then compared 29 patients with lung cancer, and 30 with colorectal cancer, with 75 healthy individuals to see whether they could distinguish cancer patients from healthy controls – and identify the where tumour was originating from.

As they report in Nature Genetics, they were 83 percent accurate in identifying the correct tissue of origin in the colorectal cancer samples, and 92 percent accurate in identifying lung-cancer samples.

'Current [liquid biopsy] assays are mainly applicable to people who have already been diagnosed with cancer, so you already know where the cancer comes from. But to go to the holy grail of early detection you need to know tissue origin,' said Professor Zhang.

Professor Yuval Dor of the Hadassah Medical School in Israel, who also works on DNA methylation signatures, said that 'the clinical potential is enormous, for detection of cancer and much beyond'.

The scientists are now aiming to commercialise the blood test through the genetics startup Singlera Genomics.


24 April 2017 - by Meghna Kataria 
A blood test could swiftly detect gene mutations found in lung cancer, allowing faster commencement of treatment...
03 April 2017 - by Annabel Slater 
New genes indicating risk of ovarian and brain cancer have been identified using genome-wide association studies...

19 December 2016 - by Isobel Steer 
A study has cast doubts on the reliability of 'liquid biopsies' – blood tests that detect tumour mutations and are increasingly used to guide treatment...
12 September 2016 - by Meetal Solanki 
A blood test costing only £35 could help in the early diagnosis of oesophageal cancer and could be available in five years' time...
21 March 2016 - by Hannah Somers 
Scientists say they have been able to detect multiple diseases, including pancreatic cancer, multiple sclerosis and type 1 diabetes, by analysing fragments of DNA in the bloodstream...
09 November 2015 - by Ayala Ochert 
Scientists say it may be possible to track the progress of cancer – and cancer treatment – in real time from fragments of tumour DNA that are shed into the bloodstream...
14 September 2015 - by Isobel Steer 
A US startup called Pathway Genomics has launched the first commercial 'liquid biopsy' to identify cancerous mutations via a blood test...

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