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New study provides more precise data on gene mutations

For women carrying BCRA1 and BCRA2 gene mutations with their wide risk bracket of 43% to 88% of developing from breast cancer before age 70, taking critical decisions such as opting for preventive surgery is not easy, reports [s]News-Medical[/s]. A study by the [b]Spanish National Cancer Research Centre[/b] (CNIO) will, however, contribute towards giving every woman far more precise data about her personal risk. The paper, authored by 200 researchers from 55 research groups around the world and published [s]PLOS Genetics[/s], describes two new genes that influence the risk of women developing breast and ovarian cancer when they are carriers of BCRA1 and BCRA2 mutations. According to Ana Osorio, lead author and a researcher in the [b]Human Genetics Group[/b], at CNIO: 'The aim is to create a test that includes all known genetic variants that affect the risk of developing cancer, and at what age, in order to be able to compile a personalised profile for each patient.'

More diagnostic news – a blood sample could one day be enough to diagnose many types of solid cancers, or to monitor the amount of cancer in a patient's body and responses to treatment, reports [s]Medical Xpress[/s]. Previous versions of the approach, which relies on monitoring levels of tumour DNA circulating in the blood, have required cumbersome and time-consuming steps to customise it to each patient or have not been sufficiently sensitive. Now researchers at [b]Stanford University School of Medicine[/b], the study published in [s]Nature Medicine[/s], have devised a way to quickly bring the technique to the clinic. Their approach, which should be broadly applicable to many types of cancers, is highly sensitive and specific.

While the usefulness of the tests still needs to be proved, proponents say that because liquid biopsies are not invasive, they can be easier to repeat periodically, potentially tracking the disease as it evolves and allowing treatments to be adjusted accordingly, reports [s]The New York Times[/s]. Some developers think that such blood tests might one day be used to screen healthy people, providing early detection of a wide variety of cancers, not just a single type as with mammograms or PSA tests. Similar technology has already transformed prenatal testing.

[link url=http://www.news-medical.net/news/20140407/Study-describes-two-new-genes-that-influence-risk-of-women-developing-breast-ovarian-cancer.aspx]Full News-Medical report[/link]
[link url=http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1004256]PG full study[/link]
[link url=http://medicalxpress.com/news/2014-04-blood-rapid-accurate-method-solid.html]Full Medical Xpress report[/link]
[link url=http://med.stanford.edu/ism/2014/april/diehn.html]Stanford research[/link]
[link url=http://www.nytimes.com/2014/04/08/business/cancer-analysis-tools-circumvent-biopsies.html?emc=edit_th_20140408&nl=todaysheadlines&nlid=42505380&_r=0]Full report in The New York Times[/link]

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