A Diagnostics & Imaging Week

Researchers have identified genetic variations in a region of DNA that may be associated with breast cancer risk. Women with the variation have a 1.4 times greater risk of developing breast cancer compared to those without this variation, according to the researchers.

The study is one of several genome-wide association studies looking for breast cancer genes, to be published this year by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health. The findings appeared online in the Proceedings of the National Academy of Sciences on Monday.

“A genome-wide association study looks at the entire genome for a type of genetic variation that occurs more frequently in people who have a certain disease than in similar people who do not have the disease,” said Bert Gold, PhD, of NCI’s Center for Cancer Research, the study’s lead author. “[W]e found variations in a gene locus, a specific place on a chromosome where a gene is located, that had not been identified in previous studies.”

Genome-wide association studies look for genetic variations known as single nucleotide polymorphisms (SNP), alterations in the genetic code in which a single nucleotide — the individual building blocks that make up DNA — is changed. The researchers found that variations in four SNPs located in a region of chromosome 6 were present more often in breast cancer patients, suggesting that genes in this region might contribute to the risk of breast cancer. The researchers also confirmed the finding of previous studies indicating that the locus named FGFR2 is associated with a 20% increased risk of breast cancer.

“The likelihood that this finding could be due to chance alone is about 1 in 300 million,” Gold said. “We have already begun experiments to try to identify the genes associated with risk, and then try to characterize their function. It is hoped that identifying the genes responsible for this increased risk may lead to new therapies that target the actions of these genes.”

Several genes located in this chromosome region play a role in regulating important cell processes, such as cell cycle, DNA replication and repair, cell signaling, and programmed cell death. Defects in these processes have been well documented in breast cancer, according to NCI.

The study participants indicated that all four of their grandparents were Jewish and of Eastern European descent. The study was designed and directed by a research team at Memorial Sloan-Kettering Cancer Center (New York), with participation from other centers in the U.S., Canada, and Israel.

Data on Parkinson’s released

Data from one of the first genome-wide association studies (GWAS), which focused on Parkinson’s diseases, funded in part by The Michael J. Fox Foundation for Parkinson’s Research (MJFF; New York), is now being made available to researchers through the National Human Genome Research Institute (NHGRI) and the National Center for Biotechnology Information (NCBI), of the National Institutes of Health. NHGRI said it hopes to speed up research by making previously unavailable GWAS data sets publicly available to the research community.

The study, conducted by researchers at Mayo Clinic (Rochester, Minnesota) and Perlegen Sciences (Mountain View, California), was the first genome-wide association study applied to Parkinson’s, according to NHGRI. It was funded under MJFF’s Linked Efforts to Accelerate Parkinson’s Solutions (LEAPS) initiative.

“Until now, the individual-level data from this study had been available only to a few researchers,” said Teri Manolio, MD, PhD, director of NHGRI’s Office of Population Genomics. “This is the first orphan data set NHGRI is adopting to make public through NCBI, but it certainly will not be the last. We appreciate the willingness of the LEAPS researchers and patients to share their data with the rest of the research community ... .”

Survey: 63% against Medicare cuts

As Congress prepares to begin debate on the Bush Administration’s proposed FY09 budget containing five-year, $24 billion cuts to Medicare’s nursing home benefit, a national survey conducted by Zogby International for the American Health Care Association (AHCA; Washington) finds 63% of likely voters opposing the cut and nearly half “strongly opposed” to it.

Of those survey respondents who said they “strongly oppose” the Medicare cuts, 56.9% are Democrats, 47.1% are Independents and 31.3% Republicans.

Further, 61% of the total sample said they would be less likely to re-elect their U.S. Representative if he or she voted for the budget that includes the Medicare cuts. The survey of 1,105 likely U.S. voters, conducted last month has an error margin of +/-3%.

“This new poll, coming at a critical time in the budget process, shows strong bipartisan opposition to the Medicare cuts contained in the administration’s budget plan,” said Bruce Yarwood, president/CEO of AHCA. “Our profession intends to clearly outline both here in Washington and in key states and congressional districts how these cuts would undermine seniors’ care quality, threaten facilities’ staffing enhancement initiatives, and because of the growing cross-subsidization problem, further destabilize state Medicaid programs.”