Breast cancer awareness: Testing urged, guidelines explained, misconceptions explored

Women with BRCA1 and BRCA2, the
genes most commonly involved in breast
cancer, have up to an 80 percent chance
of getting the disease.

October is Breast Cancer Awareness Month. Although Kentucky's breast cancer rate is slightly lower than the nationwide rate, almost 600 women die every year from breast cancer in the Commonwealth. The American Cancer Society predicts approximately 3,160 new cases of breast cancer will be diagnosed in Kentucky this year. Early detection and prompt treatment can significantly reduce suffering and death from the disease.

According to the Cabinet for Health and Family Services, all health plans serving Kentuckians must, by law, cover mammograms. Medical guidelines strongly recommend that women older than 40 have annual mammograms and women younger than 40 with a family history of breast cancer should also have regular screenings. Through local health departments, the Kentucky Women's Cancer Screening Program provides breast cancer screenings, mammograms and Pap tests to eligible women in every county. During the 2011 fiscal year, KWCSP provided breast cancer screenings to 14,212 women. Services are provided to low-income women through the Kentucky Department for Public Health. Those women must be uninsured with incomes less than 250 percent of federal poverty guidelines.  For more information about breast cancer or screening services, call your local health department.

There are many misconceptions about the risks of developing breast cancer. Genetics, of course, is a well-documented factor but lifestyle issues have gotten a lot of talk. So what's true? Wendy Chen, MD, MPH, a breast cancer expert at Dana-Farber Cancer Institute in Boston, a principal teaching affiliate of Harvard University, tackles some of the more common questions here:

1) Soy may increase the risk of breast cancer returning.
False. Chen, who was part of a study that looked at over 9,500 American and Chinese breast cancer survivors who ate soy every day, says that eating soy may be linked to a lower risk of recurrence of breast cancer.

2) Alcohol consumption can increase the risk of breast cancer.
True. Dana-Farber researchers found that women who consume one alcoholic drink a day may increase their risk for breast cancer.  Chen and her colleagues analyzed data from over 105,000 women in the Nurses’ Health Study. Those who consumed three to six glasses of wine a week were 15 percent more likely to receive a diagnosis of breast cancer. Those who drank fewer than three drinks a week had no increased risk.

3) Fertility treatments increase a woman’s risk of breast cancer.
False. According to a recent study from the National Institutes of Health, ovulation-inducing fertility treatments like Clomid and follicle stimulating hormone (FSH) do not significantly increase a woman's risk of developing breast cancer.

4) Wearing deodorant can increase the risk of breast cancer.
False. According to the National Cancer Institute, there is no conclusive research linking underarm deodorants to breast cancer.

5) The bigger the baby the bigger the risk of getting breast cancer.
Possibly true. “This is a tough one because the research is still evolving,” says Chen. "But the latest research shows that women who have larger babies have more than twice the risk of developing breast cancer than mothers who give birth to smaller infants. Researchers say that having a heavier baby may create a hormonal environment in pregnancy that could lead to the future development of breast cancer. They found that during pregnancy in women who have heavier babies, the ratio of estrogen to anti-estrogen is unusually high. The greater the level of estrogen, the higher the risk of breast cancer. However, Chen emphasizes, women who have larger babies should not panic. There is definitely a need for further research.” (Read more)

UK researcher part of team that has identified Usher Syndrome gene, responsible for genetic loss of sight and hearing in babies

A University of Kentucky physiologist has teamed with researchers from several institutions to report a novel type of gene associated with Usher Syndrome, a hereditary disease that causes individuals to lose both hearing and sight. The work of Gregory Frolenkov, associate professor at the University of Kentucky College of Medicine, and others led by Zubair M. Ahmed from the University of Cincinnati and Cincinnati Children's Hospital Medical Center, is being published in the November 2012 issue of Nature Genetics.

 In the United States, approximately six of every 100,000 babies have Usher Syndrome. About 3 to 6 percent of all children who are deaf and another 3 to 6 percent of children who are hard of hearing have Usher Syndrome. According to the National Institute on Deafness and Other Communication Disorders, parents who have normal hearing and vision usually do not know if they are carriers of an Usher gene mutation. It is not yet possible to determine whether a person who does not have a family history of Usher syndrome is a carrier. Several genes associated with different types of Usher Syndrome have been identified.

Hospitals can learn from revealing account of the attack of a superbug; sequencing germ's DNA seems to be key

Dr. Tara Palmore, deputy hospital epidemiologist at the
National Institutes of Health Clinic Center, left, and Dr.
Julie Segre, a geneticist with the National Human
Genome Research Institute. Both were integral in
pinpointing the spread of a superbug at NIH.
Associated Press photo by Patrick Semansky.

A candid account of how a superbug was contained at one of the nation's leading research hospitals indicates that fast sequencing of a germ’s full DNA can make all the difference.

Over a six-month period, Klebsiella pneumonia, or KPC, a germ that cannot be treated by most antibiotics, sickened 18 people at the National Institutes of Health. Six of them died and another five, though they survived the effects of the germ, died from the disease that originally brought them to the facility.

Infections at health-care facilities kill about 100,000 Americans each year. But, fearful of lawsuits, hospitals generally don’t reveal to the public when infections outfox control measures, reports Lauran Neergaard for The Associated Press. That changed this week when government researchers published the story of what happened at NIH.

Dr. Julie Segre, a senior investigator at NIH’s National Human Genome Research Institute, was in charge of the “genetic sleuthing that found the bug hiding in sink drains and, most chilling, even in a ventilator that had been cleaned with bleach,” Neergaard reports. A multidrug-resistant strain of Klepsiella bacteria has emerged that spreads easily between patients who are very ill, and it kills half of whomever it sickens.

On June 13, 2011, a research nurse checked the medical records of a study participant who was being transferred from a New York City hospital and was critically ill with a rare lung disease. She found the patient had KPC, prompting the hospital to put her in strict isolation. “Everyone entering her room donned a protective gown and gloves and rigorously washed their hands,” Neergaard reports. “Her medical equipment got special decontamination. All other patients in the intensive care unit had their throats and groins tested regularly to see if the bug was spreading.” All seemed to be clear and the woman was sent home two days later.

But three weeks later, a patient with cancer was found to have KPC, though he was never in the presence of the first patient. Ten days later, a woman with an immune disease also got sick with KPC. Both died from the infection.

Researchers wondered if the cases were related or if the patients were arriving already infected with KPC. Segre turned to DNA for answers. "As bacteria multiply, mistakes appear and are repaired in their genetic codes," Neergaard reports. "Sequencing that genome allowed Segre to follow differences in single genetic letters like a trail of the germ’s transmission and evolution." Using this method, Segre discovered the KPC appearing at NIH was the same strain that came from the New York patient. "Testing bacteria from the 17 additional patients who ultimately caught it shows the KPC was transmitted three separate times from Patient No. 1 and then spread more widely," Neergaard reports.

NIH completely overhauled its decontamination practices, but the bacteria continued to spread. By November, the bacteria appeared in two patients who were not even in intensive care. Finally, the hospital built a new isolation room and all 200-plus patients in the hospital were subject to rectal testing.

The contamination is now contained, but the account of it is giving pause to infection-control specialists around the country. “Absolutely this could happen in any hospital,” said Dr. Deverick Anderson, co-director of a Duke Universityinfection control network. (Read more)

Two gene variants identified as risk factors for childhood obesity

The largest ever genome-wide study has identified two new gene variants that increase the risk of common childhood obesity.

"We have definitively identified and characterized a genetic predisposition to common childhood obesity," said lead investigator Struan F.A. Grant, associate director of the Center for Applied Genomics at The Children's Hospital of Philadelphia.

The analysis included 14 previous studies "encompassing 5,530 cases of childhood obesity and 8,300 control subjects, all of European ancestry," reports research-reporting service Newswise.

The study team identified two novel loci, or specific locations of a gene or DNA sequence on a chromosome. One is near the OLFM4 gene on Chromosome 13, the other in the HOXB5 gene on Chromosome 17. There was a degree of evidence for two other gene variants as well. "The known biology of three of the genes hints at a role of the intestine, although their precise functional role in obesity if currently unknown," Newswise reports. (Read more)