FRIDAY, June 7 (HealthDay News) -- Researchers in South Korea say they've developed a blood test that spots genetic changes that signal the presence of colon cancer.

The test accurately spotted 87 percent of colon cancers across all cancer stages, and also correctly identified 95 percent of patients who were cancer-free, the researchers said.

Colon cancer remains the second leading cancer killer in the United States, after lung cancer. According to the U.S. Centers for Disease Control and Prevention, nearly 137,000 Americans were diagnosed with the disease in 2009; 40 percent of people diagnosed will die from the disease.

Right now, invasive colonoscopy remains the "gold standard" for spotting cancer early, although fecal occult blood testing (using stool samples) also is used. What's needed is a highly accurate but noninvasive testing method, experts say.

The new blood test looks at the "methylation" of genes, a biochemical process that is key to how genes are expressed and function. Investigators from Genomictree Inc. and Yonsei University College of Medicine in Seoul said they spotted a set of genes with patterns of methylation that seems to be specific to tissues from colon cancer tumors. Changes in one gene in particular, called SDC2, seemed especially tied to colon cancer growth and spread.

As reported in the July issue of the Journal of Molecular Diagnostics, the team tested the gene-based screen in tissues taken from 133 colon cancer patients. As expected, tissues taken from colon cancer tumors in these patients showed the characteristic gene changes, while samples taken from adjacent healthy tissues did not.

More important, the same genetic hallmarks of colon cancer (or their absence) "could be measured in [blood] samples from colorectal cancer patients and healthy individuals," the researchers said in a journal news release.

The test was able to detect stage 1 cancer 92 percent of the time, "indicating that SDC2 is suitable for early detection of [colorectal cancer] where therapeutic interventions have the greatest likelihood of curing the patient from the disease," study lead author TaeJeong Oh said in the news release.

Oh said the test could be used either in addition to conventional colonoscopy or perhaps as an alternative.

Experts were cautious about the potential utility of the new test.

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WEDNESDAY, June 5 (HealthDay News) -- Scientists say they've identified a gene mutation behind a condition that causes children to undergo puberty before the age of 9.

The condition, known as central precocious puberty, appears to be inherited via a gene passed along by fathers, say researchers reporting online June 5 in the New England Journal of Medicine.

Besides helping children with central precocious puberty, "these findings will open the door for a new understanding of what controls the timing of puberty" generally, co-senior study author Dr. Ursula Kaiser, chief of the endocrinology, diabetes and hypertension division at Brigham and Women's Hospital in Boston, said in a hospital news release.

According to the authors, the mutation leads to the start of puberty before age 8 in girls and before age 9 in boys. That's earlier than the typical onset of puberty, which begins in girls between ages 8 and 13 and in boys between ages 9 and 14.

The study included genetic analyses of 40 people from 15 families with a history of early puberty. In five of the 15 families, the researchers discovered four mutations in the MKRN3 gene. A mutation in the MKRN3 gene can lead to premature activation of reproductive hormones and trigger early puberty, the study authors explained in the news release.

All of the people with the MKRN3 mutations inherited them from their fathers.

One expert who reviewed the research said the finding should be a great advance for children with central precocious puberty.

Testing children for the MKRN3 mutation "may help in the diagnosis, preventing the use of extensive testing and procedures such as MRI of the head," explained Dr. Patricia Vuguin, pediatric endocrinologist at Steven & Alexandra Cohen Children's Medical Center of New York, in New Hyde Park, N.Y.

She said better diagnostic tests would help spot patients at risk for early puberty and problems that often accompany it, such as short stature, psychological issues and other possible health issues. More generally, "the diagnosis will also help understand the role of this gene and other associated genes on how and when kids go into puberty, an area that is currently not clear," Vuguin said.

The findings will also be presented June 17 at the Endocrine Society's annual meeting.

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Beijing, Jun 7 (IANS): Terming researches in gene-doping detection as promising, the World Anti-Doping Agency (WADA) has hoped that a reliable test could be ready for the Rio summer Olympic Games.

WADA vice president Arne Ljungqvist said Thursday that they were on path to detect gene-doping, a side-door of gene therapy to enhance athletes' sports performance by manipulating their genes, reports Xinhua.

"It is always difficult to predict when something is ready, validated and possibly used. Sometimes it goes much quicker than expected, sometimes you meet obstacles that are not foreseen," said the Swede after the fourth Gene and Cell Doping Symposium.

WADA has invested about $15 million into research since it first held a gene-doping symposium in 2002, when gene therapy had just taken its first step.

"I hope we are not very far from it. It is a very vague promise but we had a hope that for the next edition of the Games, we will have a proper method in place," said Ljunquivst, who also chairs International Olympic Committee's medical commission. "That is the message we are sending and a mission we are working hard on."

Theodore Friedmann, WADA's gene and cell doping panel head, said scientists involved in the project are making "major breakthroughs in lab level" but a test must be "accurate and fair and avoid too many false positives" before application.

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Marla Dansky is scheduled for two rounds of surgery this summer, shortly after she completes chemotherapy treatments for a tumor in her left breast.

Her first operation at Duke Cancer Center will remove both breasts. A second will take out her ovaries and uterus, which are not cancerous but are likely to develop the disease, based on genetic tests that show she carries a faulty BRCA1 gene.

"It's the best pre-emptive strike that I have," Dansky, 40, said of her decision to undergo a complete hysterectomy in addition to bilateral breast surgery. "My plan is to 'do cancer' once, and do it right the first time."

The strong link between the BRCA1 gene and cancer, as well as the option to sidestep much of the risk through elective surgery, grabbed headlines recently when actress Angelina Jolie made public her decision to undergo a double mastectomy.

But the procedure isn't only available to movie stars. More than a third of women who test positive for BRCA1 are choosing preventative surgeries -- largely because the gene mutation raises the typical 10 percent risk of female breast cancer to something closer to 80 percent, according to the National Cancer Institute.

Screening for breast cancer is now one of more than 1,000 genetic tests available to evaluate health risks. Such tests offer unprecedented opportunities to take steps to avoid serious illness in many cases, but they pose dilemmas for patients facing a high risk for diseases with no known cure.

Individuals seeking more general clues to their genetic profiles, for example, are turning to direct-to-consumer testing companies. A number of companies offer to scan blood or saliva samples for indications of risk for common diseases such as macular degeneration or diabetes, as well as more serious conditions such as cancer or Parkinson's disease.

One such testing company, the Web-based 23andMe, evaluates genetic indicators for health, ancestry and other traits using saliva samples sent in by customers, said company spokeswoman Catherine Afarian.

In 2007, when the testing was first offered, the service produced 14 reports for $999. Now more than 240 reports are available for $99, Afarian said.

"It's a reflection of the amount of research that is being done in the field of genetics," she said.

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Public release date: 6-Jun-2013 [ | E-mail | Share ]

Contact: Robert Perkins perkinsr@usc.edu 213-740-9226 University of Southern California

Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait.

When this Noonan syndrome mutation arises in a normal sperm stem cell it makes that cell more likely to reproduce itself than stem cells lacking the mutation. The father then is more likely to have an affected child because more mutant stem cells result in more mutant sperm. The longer the man waits to have children the greater the chance of having a child with Noonan syndrome.

Noonan Syndrome is among the most common genetic diseases with a simple inheritance pattern. About one of every 4,000 live births is a child with a new disease mutation. The disease can cause craniofacial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.

By examining the testes from 15 unaffected men, a team led by USC molecular and computational biologists Norman Arnheim and Peter Calabrese found that the new mutations were highly clustered in the testis, and that the overall proportion of mutated stem cells increased with age. Their computational analysis indicated that the mutation gave a selective edge over non-mutated cells.

"There is competition between stem cells with and without the mutation in each individual testis," said Arnheim, who has joint appointments at the USC Dornsife College of Letters, Arts and Sciences and the Keck School of Medicine of USC. "But what is also unusual in this case is that the mutation which confers the advantage to testis stem cells is disadvantageous to any offspring that inherits it."

The new findings also suggest an important new molecular mechanism to explain how certain genetic disease mutations can alter sperm stem cell function leading to exceptionally high frequencies of new cases every generation.

###

The Arnheim and Calabrese team included USC postdoctoral research associates Song-Ro Yoon, and Soo-Kung Choi, graduate student Jordan Eboreime and Dr. Bruce D. Gelb of the Icahn School of Medicine at Mount Sinai in New York City. A paper detailing their research will be published on June 6 in The American Journal of Human Genetics.

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Empowered: Howard Jacob can tackle problems before they arrive. Photo: Joe Armao

American geneticist Howard Jacob has glimpsed the future. Without medical motivation, he has had his genome sequenced and now carries his genetic profile around with him via an app on his tablet.

''Within a decade this is going to be common,'' Professor Jacob said. ''And if you want to get the most bang for your buck, you'd do it on the day that a baby is born.''

Genomics involves the study of the genome: the body's genetic blueprint. How a genome is assembled is different for every person.

After having his genome sequenced last year, Professor Jacob learnt of the genetic quirks that lurked in his family tree, including a predisposition to breast cancer for his female relatives.

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The genetics field is developing so rapidly that, like any other app on his tablet, Professor Jacobs needs to update the data.

On Wednesday, not long after arriving in Melbourne from Wisconsin, he learnt he was susceptible to Creutzfeldt-Jakob disease - also known as mad cow disease.

It sounds grim, but for Professor Jacob the information is empowering. It allows problems to be tackled before they arrive and for lifestyle choices to be made to reduce risk.

He also points out that the presence of a genetic variation doesn't guarantee a disease will develop.

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CHICAGO--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) today highlighted ongoing clinical development programs for ADCETRIS (brentuximab vedotin) in frontline Hodgkin lymphoma (HL) and mature T-cell lymphoma (MTCL) and progress with collaborator antibody-drug conjugate (ADC) programs that were presented at the 49th Annual Meeting of the American Society of Clinical Oncology being held May 31 June 4, 2013, in Chicago, IL. The phase 3 clinical trials, called ECHELON-1 and ECHELON-2, are evaluating ADCETRIS for the frontline treatment of HL and MTCL, including patients with systemic anaplastic large cell lymphoma (sALCL) and other types of peripheral T-cell lymphoma. ADCETRIS is an ADC directed to CD30, a defining marker of HL and sALCL, which was granted accelerated approval by the FDA in August 2011 for relapsed HL and relapsed sALCL. In addition, encouraging phase 1 data were presented from two ADC clinical programs being developed by Genentech, a member of the Roche Group (RO.SW) (SWX:ROG)(RHHBY), using Seattle Genetics technology.

ADCs represent an innovative and growing field in the fight against cancer, which is evident by the interest in this therapeutic approach at the ASCO annual meeting, said Clay B. Siegall, Ph.D., President and Chief Executive Officer of Seattle Genetics. As the first ADC to be approved by the FDA in this new class, we are focused on broadening the evaluation of ADCETRIS in earlier lines of therapy with our ongoing ECHELON-1 and ECHELON-2 global phase 3 trials, which are designed to redefine the standard of care for frontline treatment of HL and MTCL. While we advance our internal programs, our collaborators are making important progress utilizing our ADC technology. Notably, Genentech is presenting encouraging phase 1 data for two ADC candidates in solid tumor settings.

Seattle Genetics is the leader in developing ADCs, a technology designed to harness the targeting ability of antibodies to deliver cell-killing agents directly to cancer cells. Of the approximately 30 ADC candidates currently in development, more than half utilize Seattle Genetics proprietary ADC technology.

Phase III Trial of Brentuximab Vedotin Plus Doxorubicin, Vinblastine, and Dacarbazine (A+AVD) Versus Doxorubicin, Bleomycin, Vinblastine, and Dacarbazine (ABVD) as Front-line Treatment for Advanced Classical Hodgkin Lymphoma (HL) (Abstract #TPS8612)

Recent phase 1 data presented at the 2012 American Society of Hematology (ASH) Annual Meeting demonstrated that A+AVD, which removes bleomycin from the standard frontline ABVD regimen, was associated with a manageable safety profile and a complete remission (CR) rate of 96 percent in the treatment of newly diagnosed HL patients. A global phase 3 study, called ECHELON-1, is an ongoing open-label, randomized, multi-center trial designed to investigate A+AVD versus ABVD as frontline therapy in patients with advanced classical HL. The primary endpoint is modified progression free survival (mPFS) per independent review facility assessment using the Revised Response Criteria for malignant lymphoma (Cheson, 2007). Secondary endpoints include overall survival (OS), CR rate and safety. The trial is being conducted in North America, Europe, Latin America and Asia. The study will enroll approximately 1,040 eligible patients (approximately 520 patients per treatment arm) who have histologically-confirmed diagnosis of Stage III or IV classical HL and who have not been previously treated with systemic chemotherapy or radiotherapy.

Phase III Trial of Brentuximab Vedotin and CHP Versus CHOP in the Frontline Treatment of Patients with CD30+ Mature T-Cell Lymphomas (MTCL) (Abstract #TPS8611)

Recent phase 1 data presented at the 2012 ASH Annual Meeting demonstrated that ADCETRIS in combination with cyclophosphamide, doxorubicin and prednisone (A+CHP) in the frontline treatment of MTCL was associated with a manageable safety profile and 100 percent objective response rate, including 88 percent CRs. A global phase 3 study, called ECHELON-2, is an ongoing randomized, double-blind, placebo-controlled, multi-center trial designed to investigate A+CHP versus cyclophosphamide, doxorubicin, vincristine and prednisone (CHOP) as frontline therapy in patients with CD30-expressing MTCL. Approximately 300 patients (approximately 150 patients per treatment arm) will be randomized to receive A+CHP or CHOP for six to eight cycles every three weeks. The primary endpoint is progression-free survival (PFS) per independent review facility assessment using the Revised Response Criteria for malignant lymphoma. Secondary endpoints include OS, CR rate and safety. The trial is being conducted in North America, Europe and Asia.

ADCETRIS is currently not approved for frontline treatment of HL and MTCL. For more information about ECHELON-1 and ECHELON-2, visit http://www.clinicaltrials.gov.

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