By Dennis Thompson 
 
 HealthDay Reporter 
 
 (HealthDay) 
 
 WEDNESDAY, Aug. 16, 2017 (HealthDay News) -- A new genetic blood test might pave the way for detecting early stage cancers that often prove fatal when caught too late, a new study suggests. 
 
 The test scans blood for DNA fragments released by cancerous tumors, explained lead researcher Dr. Victor Velculescu. 
 
 By reviewing these DNA fragments for mutations found in 58 "cancer-driver" genes, the blood test detects many early stage cancers without rendering false positives for healthy people, said Velculescu, co-director of cancer biology at the Johns Hopkins Kimmel Cancer Center, in Baltimore. 
 
 The test detected stage 1 or 2 colon, breast, lung or ovarian cancers between 59 percent and 71 percent of the time when assessing 200 patients previously diagnosed with cancer, researchers found. 
 
 "If we are able to detect cancer earlier, our chances of saving lives would be much higher," Velculescu said. "The survival difference between late-stage and early stage disease in these cancers accounts for over a million lives worldwide each year." 
 
 The test also proved capable of screening out cancer-free people. 
 
 Dr. Len Lichtenfeld, deputy chief medical officer for the American Cancer Society, called this "important research" that "moves us one step further down the path to developing a blood test that might find cancer earlier." 
 
 "We still need to improve the sensitivity, but this is a step forward. It is a proof of concept," Lichtenfeld said. "It is not a test that's going to be available in a clinical laboratory anytime soon." 
 
 To develop a genetic blood test for cancer, researchers must find ways to spot DNA mutations linked to cancer while ignoring natural and harmless mutations that regularly occur in humans, Velculescu explained. 
 
 Velculescu and his team developed a genetic scan that essentially "takes a fragment here and a fragment there and uses it to create a picture of what the tumor DNA looks like," Lichtenfeld said. "That's what makes it so elegant." 
 
 The research team assembled a panel of 58 cancer-linked genes, and used their scan to look for tumor DNA fragments in the blood of 200 people known to have cancer. 
 
 Overall, researchers detected about 62 percent of stage 1 and 2 cancers. 
 
 The test specifically spotted early stage colon cancer 71 percent of the time, breast and lung cancer 59 percent of the time, and ovarian cancer 68 percent of the time. 
 
 The ability to catch early stage ovarian cancer is particularly needed, Lichtenfeld said. Fewer than one in five ovarian cancers are caught early, when the five-year survival rate is greater than 90 percent. Most are detected after they've spread, and by then the odds of five-year survival are 40 percent or less, he said. 
 
 "Finding any marker in a stage 1 ovarian cancer patient is very important, because this is a tumor that usually presents at a much later stage," Lichtenfeld said. 
 
 The researchers also directly tested cancerous tissue removed from half of the 200 cancer patients. They found that 82 percent of the tumors contained mutations that correlated with DNA fragments found in the person's blood. 
 
 To check the blood test's ability to weed out healthy people, the researchers also analyzed blood from 44 volunteers without cancer. No false positives occurred. 
 
 That equates to less than one false positive for more than 3.5 million letters of DNA sequenced, since each separate test requires assessment of 80,000 DNA base pairs associated with the 58-gene screening panel, Velculescu said. 
 
 Despite these promising results, researchers need to validate the blood test in larger studies, Velculescu said. 
 
 More work also needs to be done to improve the detection rate, Lichtenfeld added. "These tests were not able to detect 100 percent of the cancers," he said. 
 
 Finally, cancer doctors must discuss what will be done when technology evolves to the point that such tests regularly find tumors that aren't life-threatening, Lichtenfeld said. In some cases, treatment to remove the cancer could be worse than leaving it alone. 
 
 "What's going to be so important is to be able to distinguish cancers that will hurt people versus cancers that may not have long-term impact on survival," Lichtenfeld said. 
 
 The report appears in the Aug. 16 issue of the journal Science Translational Medicine. 
 
 More information 
 
 For more on the genetics of cancer, visit the U.S. National Cancer Institute. ||||| CHICAGO (Reuters) - A test that scans blood for tumor-specific DNA identified early-stage cancer in more than half of 138 patients with the disease, U.S. researchers reported on Wednesday, marking a new milestone in the rush for so-called “liquid biopsies.” 
 
 Several companies already offer tests that can detect cancer DNA in the blood of patients with late-stage cancers. Such tests are used to help guide treatment or identify whether cancers have returned after surgery. 
 
 Researchers behind the early-stage test hope it could be used to identify cancers at a stage when patients have a better chance at survival. 
 
 “To our knowledge, this is one of the first studies that has looked directly at early-stage cancers,” said Dr Victor Velculescu, professor of oncology at Johns Hopkins Kimmel Cancer Center, whose study was published in the journal Science Translational Medicine. 
 
 In making the test, the challenge was to identify rare DNA from real cancers while ignoring other types of genetic alterations that can occur as blood cells divide or genetic alterations that people are born with. 
 
 For the study, the team screened blood samples from patients with breast, lung, ovarian and colorectal cancers, looking for 58 genes typically linked with these cancers. Overall, they were able to detect 86 out of 138 stage I and stage II cancers. They also sequenced mutations in tumors from 100 of the patients studied, and found that in 82 patients, the same mutations found in the blood corresponded with those found in the tumor tissue. 
 
 They also tried the test on 44 healthy patients, and showed it did not detect any cancer-derived mutations. 
 
 Velculescu said more studies would be needed in much larger populations to prove the test can safely and accurately identify early-stage cancers, a process that could take up to five years. 
 
 The hope, he said, is that it would identify cancers at a stage when patients have a better chance at survival. First uses of the technology would be in patients at high risk for developing cancer, such as heavy smokers, he said. 
 
 In addition to being a researcher at Johns Hopkins, Velculescu is a co-founder of Personal Genome Diagnostics, a private liquid biopsy company. The study was done by Johns Hopkins researchers, he said. 
 
 In June, Grail, a spinoff from gene sequencer maker Illumina, presented a feasibility study for its liquid biopsy test at American Society of Clinical Oncology meeting in Chicago. In that study, researchers analyzed tissue and blood from patients with advanced cancers. Grail is also pursuing early-stage cancer detection. ||||| The Pap test, which has prevented countless deaths from cervical cancer , may eventually help to detect cancers of the uterus and ovaries as well, a new study suggests. 
 
 For the first time, researchers have found genetic material from uterine or ovarian cancers in Pap smears, meaning that it may become possible to detect three diseases with just one routine test. 
 
 But the research is early, years away from being used in medical practice, and there are caveats. The women studied were already known to have cancer, and while the Pap test found 100 percent of the uterine cancers, it detected only 41 percent of the ovarian cancers. And the approach has not yet been tried in women who appear healthy, to determine whether it can find early signs of uterine or ovarian cancer. 
 
 On the other hand, even a 41 percent detection rate would be better than the status quo in ovarian cancer, particularly if the detection extends to early stages. The disease is usually advanced by the time it is found, and survival rates are poor. About 22,280 new cases were expected in the United States in 2012, and 15,500 deaths. Improved tests are urgently needed. 
 
 Uterine cancer has a better prognosis, but still kills around 8,000 women a year in the United States. 
 
 These innovative applications of the Pap test are part of a new era in which advances in genetics are being applied to the detection of a wide variety of cancers or precancerous conditions. Scientists are learning to find minute bits of mutant DNA in tissue samples or bodily fluids that may signal the presence of hidden or incipient cancers. 
 
 Ideally, the new techniques would find the abnormalities early enough to cure the disease or even prevent it entirely. But it is too soon to tell. 
 
 “Is this the harbinger of things to come? I would answer yes,” said Dr. Bert Vogelstein, director of the Ludwig Center for Cancer Genetics and Therapeutics at Johns Hopkins University, and a senior author of a report on the Pap test study published on Wednesday in the journal Science Translational Medicine. He said the genomes of more than 50 types of tumors had been sequenced, and researchers were trying to take advantage of the information. 
 
 Similar studies are under way or are being considered to look for mutant DNA in blood, stool, urine and sputum, both to detect cancer and also to monitor the response to treatment in people known to have the disease. 
 
 But researchers warn that such tests, used for screening, can be a double-edged sword if they give false positive results that send patients down a rabbit hole of invasive tests and needless treatments. Even a test that finds only real cancers may be unable to tell aggressive, dangerous ones apart from indolent ones that might never do any harm, leaving patients to decide whether to watch and wait or to go through surgery, chemotherapy and radiation with all the associated risks and side effects. 
 
 “Will they start recovering mutations that are not cancer-related?” asked Dr. Christopher P. Crum, a professor at Harvard Medical School who was not involved in the research. 
 
 But he also called the study a “great proof of principle,” and said, “Any whisper of hope to women who suffer from endometrial or ovarian cancer would be most welcome.” 
 
 DNA testing is already performed on samples from Pap tests, to look for the human papillomavirus, or HPV, which causes cervical cancer. Dr. Vogelstein and his team decided to try DNA testing for cancer. They theorized that cells or DNA shed from cancers of the ovaries and the uterine lining, or endometrium, might reach the cervix and turn up in Pap smears. 
 
 The team picked common mutations found in these cancers, and looked for them in tumor samples from 24 women with endometrial cancer and 22 with ovarian cancer. All the cancers had one or more of the common mutations. 
 
 Then, the researchers performed Pap tests on the same women, and looked for the same DNA mutations in the Pap specimens. They found the mutations in 100 percent of the women with endometrial cancer, but in only 9 of the 22 with ovarian cancer. The test identified two of the four ovarian cancers that had been diagnosed at an early stage. 
 
 Finally, the team developed a test that would look simultaneously for cancer-associated mutations in 12 different genes in Pap samples. Used in a control sample of 14 healthy women, the test found no mutations — meaning no false-positive results. 
 
 Dr. Luis A. Diaz, the other senior author of the report and an associate professor of oncology at Johns Hopkins, called the research a step toward a screening test that at first blush appears very effective at detecting endometrial cancer, though obviously less so at finding ovarian cancer. 
 
 “Probably one of the most exciting features of this approach,” Dr. Diaz said, “is that we wanted a test that would seamlessly integrate with routine medical practice that could be utilized with the same test that women get every day all over the world, the Pap smear.” 
 
 But, he added: “We can’t say it’s ready for prime time. Like all good science, it needs to be validated.” 
 
 He and other members of the team said it might be possible to improve the detection rate for ovarian cancer by looking for more mutations and by changing the technique of performing Pap tests to increase the likelihood of capturing cells from the ovary. The change might involve timing the test to a certain point in a woman’s monthly cycle, using a longer brush to collect cells from deeper within the cervix or prescribing a drug that would raise the odds of cells being shed from the ovary. 
 
 The technique also needs to be tested in much larger groups of women, including healthy ones, to find out whether it works, particularly at finding cancers early enough to improve survival. And studies must also find out whether it generates false positive results, or identifies cancers that might not actually need to be treated. 
 
 Michael H. Melner, a program director in molecular genetics and biochemistry for the American Cancer Society, called the research “very promising,” in part because it is based on finding mutations. 
 
 “It tells you not just that cancer is there, but which mutation is there,” Dr. Melner said. “As we learn more and more about which mutations are associated with more or less severe forms of cancer, it’s more information, and possibly more diagnostic.”
– Human blood is rich with genetic material, and scientists have in recent years taken many steps forward in decoding it. The latest announcement—that a blood test can spot cancer at its earliest stages—has the potential to save millions of lives as treatment is administered earlier in the disease's progression, reports Reuters. Reporting in the journal Science Translational Medicine, scientists say that by analyzing DNA fragments in blood to look for several dozen cancer-driver genes, they spotted 86 out of 138 stage 1 and stage 2 cancers; they also confirmed no trace of cancer in 44 healthy patients (in other words, there were zero false positives). Some call this minimally invasive test a "liquid biopsy." "This is one of the first studies that has looked directly at early-stage cancers," says lead author Dr. Victor Velculescu, an oncologist at Johns Hopkins Kimmel Cancer Center. While the test is proof-of-concept and not yet ready for prime time, detecting 62% of cancers that were only in stages 1 or 2 is a major milestone, experts say. For instance, less than one in five ovarian cancers are caught that early, when the survival rate is higher than 90%; those that are caught after the cancer has spread face a dramatically lower 40% survival rate five years out, per HealthDay News. For this study, however, the blood test caught early-stage ovarian cancer 68% of the time. Scientists hope they can get the test much closer to a 100% detection rate. (This cancer treatment is being hailed as the most exciting in a lifetime.)