‘False-Alarm’ Mammograms Linked to Increased Breast Cancer Risk


Eileen Moleski has received mammogram results suggesting she has breast cancer four times, but further testing showed, each time, that she didn’t have the disease.

Now, she gets anxious each time she’s due for another mammogram, said Moleski, 44, who lives in the Philadelphia area.

A new study suggests that, for women like Moleski who’ve had a false-positive mammogram, continuing to be watchful for signs of breast cancer may be a good idea — such women are 67 percent more likely to eventually develop the disease, compared with women who’ve only had negative mammogram results, the findings showed.

The findings suggest “that either that the false positive mammograms may not be false at all, or that the false positive mammograms may be representative of a biological process which contributes to elevated risk of developing breast cancer in the future,” said Dr. Richard Bleicher, of the Fox Chase Cancer Center, in Philadelphia.

The study is published today (April 5) in the Journal of the National Cancer Institute.

A heightened risk

Researchers at the University of Copenhagen compiled mammography data from more than 58,000 Danish women. The women in the study were between 50 and 69 years old, and were screened between 1991 and 2005.

The findings showed that 339 cases of breast cancer would be expected in one year in a group of 100,000 women who had only negative mammograms, whereas 583 cases would be expected in a year in a group of 100,000 women who’d previously had a false-positive mammogram.

The increased risk of breast cancer remained for six years after a false positive mammogram, compared with women who always had a negative mammogram.

The findings showed an association, not a cause-and-effect link, and further work is needed to confirm the results.

Still, similar findings have been shown in the United States, said Dr. Jeff Tice, of the Helen Diller Family Comprehensive Cancer Center in San Francisco, who was not involved in the study.

The link might be explained by breast density, Tice said. Women with higher-density breast tissue may be more likely to get a false positive mammogram, and studies, including one that Tice worked on, have shown these women also have increased risk of developing breast cancer.

Dr. Dana Whaley, an assistant professor of radiology at the Mayo Clinic in Rochester, Minn., agreed that breast density may be the common link.

“Breast density is an independent risk factor for breast cancer, and it is more significant than family history most of the time,” Whaley said, though he added that why this is the case is not understood.

The study researchers said that the new findings suggest that false positives are a sign of some change occurring in breast tissue. It’s not likely, they said, that there actually was a tumor that was missed in follow-up evaluation: women in the study with a false-positive mammogram tended not to develop cancer within two years of their false-positive tests.

Skepticism of a link

Some experts raised cautions about the new findings.

“We don’t know other critical factors about the risk of the patients in the study — family history, genetic mutations, hormone use,” Bleicher said. The false-positive test might not, in itself, be the risk factor for cancer— it may be related to something else entirely.

The findings would be more convincing if the study researchers had linked the specific location within the breast of the abnormality that caused the false positive with the location of later breast cancer, said Dr. Karla Kerlikowske, also of the Diller Cancer Center.

The underlying biology that might increase the risk of breast cancer in these women needs to be explained with follow-up studies, Kerlikowske said.

Like Moleski, many patients with previous false-positive mammograms have anxiety, Whaley said. But that anxiety is usually about the detection of cancer, not the false-positive result. “When and how this information is presented to women is very important in preventing unnecessary anxiety,” he said.

Pass it on: Women who have a false-positive mammogram should continue to be monitored closely to rule out breast cancer or benign breast disease that may be a risk factor for breast cancer.

This story was provided by MyHealthNewsDaily, a sister site to LiveScience.

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Gene Mutations Linked to Crohn’s Disease in Ashkenazi Jews


THURSDAY, March 8 (HealthDay News) — Researchers have identified five new genetic mutations associated with Crohn’s disease in Jews of Eastern European descent (Ashkenazi Jews) and say their findings may help explain why Crohn’s is nearly four times more prevalent in this group than in the general population.

Crohn’s is an inflammatory bowel disease that causes swelling and irritation in the digestive tract. Symptoms include abdominal pain, diarrhea, rectal bleeding, weight loss, and fever.

Previous research pinpointed 71 genetic variants associated with Crohn’s disease risk in people of European ancestry. In this new study, Mount Sinai School of Medicine researchers compared almost 2,000 Ashkenazi Jews with Crohn’s disease to another 4,500 Ashkenazi Jews without the disease.

The team found 12 of the known risk variants and also discovered five new genetic risk regions on chromosomes 5q21.1, 2p15, 8q21.11, 10q26.3 and 11q12.1.

“This is the largest study to date, and the first to discover the unique risk factors of Crohn’s disease in the Ashkenazi Jewish population,” study leader Inga Peter, an associate professor of genetics and genomic sciences, said in a Mount Sinai news release.

“The prevalence of this disease is so much higher in Ashkenazi Jews, and the involvement of genetic variants predominant in this population might help understand why that is,” she added.

The researchers also found that the genetic structure of the newly-identified regions associated with Crohn’s disease risk in Ashkenazi Jews was much less diverse than that of non-Jewish Europeans.

“Not only did we discover different risk factors for Ashkenazi Jews, but we found that some previously known risk factors are more potent to this population,” Peter said. “Armed with this new information, we can begin to analyze the specific signals in order to pinpoint causal genetic mutations, discover why they are malfunctioning, and eventually develop novel treatment approaches.”

The study is published March 8 in the online edition of PLoS Genetics.

More information

The U.S. National Institute of Diabetes and Digestive and Kidney Diseases has more about Crohn’s disease.

View the original article here

Leukemia gene mutations linked to survival odds


(Reuters) – Advances in genetic profiling are paving the way for more precise, and effective, treatment of the aggressive bone marrow cancer known as acute mylogenous leukemia, or AML, according to new research.

Two studies, published in the latest edition of the New England Journal of Medicine, show that genetic testing can guide doctors in how best to use current therapies as well as identify new drug targets.

“As lots of studies identify new alterations in genes in leukemia and other cancers, we need to begin to understand how these alterations in DNA can predict outcomes and determine differences in treatment,” said Dr. Ross Levine of Memorial Sloan-Kettering Cancer Center in New York, the lead author of one of the studies.

Such personalized therapy is considered the new frontier for medical practice, and hopes for its success underpin a $5.7 billion hostile bid by drugmaker Roche Holding for gene sequencing company Illumina.

The second study, from Washington University in St. Louis, found that 85 percent of bone marrow cells in patients with myelodysplastic syndrome, a blood-related disorder that can precede AML, were linked to mutations in progressive cancer.

The Sloan-Kettering study analyzed bone marrow samples from 502 AML patients for mutations in 18 genes associated with the disease. The researchers were able to categorize two-thirds of the patients into groups clearly defined by their survival chances.

The study found that high-dose chemotherapy improved the rate of survival for patients with three specific genetic mutations, compared with standard-dose chemo.

It also showed that genetic profiling makes it possible to more precisely determine which patients are most likely to have their leukemia return after treatment.

AML is typically cured in about 40 percent of adults between the ages of 18 and 60, according to Levine.

“We were able to identify a very large subset of patients who need new therapies,” he said. “Another set was found to do incredibly well with existing therapies, and that is very informative.”

The American Cancer Society estimates that AML will be diagnosed in nearly 14,000 Americans this year and that more than 10,000 people will die from the disease.

Gene profiling for AML, and most other cancers, is not currently part of standard clinical practice.

“There are aspects of this that are ready to be adopted,” Levine said, adding that the immediate hurdles are the cost of genetic testing and intellectual property rights pertaining to genes that have been patented.

And questions remain about the number of genetic mutations that AML patients should be screened for.

“It is exciting to think that the goal of personalized medicine is quickly approaching,” Dr. Lucy Godley said in a NEJM editorial. “But it will require careful thought to implement genomic-based clinical evaluation in a way that is meaningful for patients.”

(Reporting by Deena Beasley; Editing by Michele Gershberg and John Wallace)

View the original article here

Leukemia gene mutations linked to survival odds


(Reuters) – Advances in genetic profiling are paving the way for more precise, and effective, treatment of the aggressive bone marrow cancer known as acute mylogenous leukemia, or AML, according to new research.

Two studies, published in the latest edition of the New England Journal of Medicine, show that genetic testing can guide doctors in how best to use current therapies as well as identify new drug targets.

“As lots of studies identify new alterations in genes in leukemia and other cancers, we need to begin to understand how these alterations in DNA can predict outcomes and determine differences in treatment,” said Dr. Ross Levine of Memorial Sloan-Kettering Cancer Center in New York, the lead author of one of the studies.

Such personalized therapy is considered the new frontier for medical practice, and hopes for its success underpin a $5.7 billion hostile bid by drugmaker Roche Holding for gene sequencing company Illumina.

The second study, from Washington University in St. Louis, found that 85 percent of bone marrow cells in patients with myelodysplastic syndrome, a blood-related disorder that can precede AML, were linked to mutations in progressive cancer.

The Sloan-Kettering study analyzed bone marrow samples from 502 AML patients for mutations in 18 genes associated with the disease. The researchers were able to categorize two-thirds of the patients into groups clearly defined by their survival chances.

The study found that high-dose chemotherapy improved the rate of survival for patients with three specific genetic mutations, compared with standard-dose chemo.

It also showed that genetic profiling makes it possible to more precisely determine which patients are most likely to have their leukemia return after treatment.

AML is typically cured in about 40 percent of adults between the ages of 18 and 60, according to Levine.

“We were able to identify a very large subset of patients who need new therapies,” he said. “Another set was found to do incredibly well with existing therapies, and that is very informative.”

The American Cancer Society estimates that AML will be diagnosed in nearly 14,000 Americans this year and that more than 10,000 people will die from the disease.

Gene profiling for AML, and most other cancers, is not currently part of standard clinical practice.

“There are aspects of this that are ready to be adopted,” Levine said, adding that the immediate hurdles are the cost of genetic testing and intellectual property rights pertaining to genes that have been patented.

And questions remain about the number of genetic mutations that AML patients should be screened for.

“It is exciting to think that the goal of personalized medicine is quickly approaching,” Dr. Lucy Godley said in a NEJM editorial. “But it will require careful thought to implement genomic-based clinical evaluation in a way that is meaningful for patients.”

(Reporting by Deena Beasley; Editing by Michele Gershberg and John Wallace)

View the original article here