Risk of breast cancer and a single nucleotide polymorphism

The single nucleotide polymorphism (SNP), known as 2q35-rs13387042 with an increased risk of estrogen receptor (ER)-positive and negative breast cancer, according to a study published online in the July 1st Review National Cancer Institute.

This study was undertaken to confirm previous studies found that the SNP as markers of vulnerability for breast cancer ER-positive.

Roger L. Milne, Ph.D., Centro Nacional de Investigaciones Oncologica in Madrid and his colleagues used data from 25 case-control studies in the Breast Cancer Association Consortium for the Study of the Association of the genetic risk breast cancer and the SNP. The studies focused on more than 31.000 women with invasive breast cancer, more than 1000 women duktale carcinoma in situ, and nearly 36,000 women as controls. The participants came from Europe and Asia.

The researchers found that the implementation of one of the two alleles of the SNP rs13387042-2q35 was an increased risk of breast cancer. The size of the association was lower than in the past noted. This association was also in both ER-positive and ER-negative breast cancer among women, whites of European origin.

"2q35-rs13387042 SNP is located in a 90 kb region of high linkage disequilibrium that are neither known genes or noncoding RNAs. The variation of causation (or variants) in this region has not been determined, and it is possible that this may be a higher risk, as rs13387042, "write the authors. "Information Mechanisms of causation can improve our understanding of the etiology of breast cancer."

In an accompanying editorial, Kenneth Offit, MD, MPH, of Memorial Sloan-Kettering Cancer Center in New York, acknowledged the study "statistically significant" results. But, as many studies the genome of association, he said, requires further research.

After Offit, however, the study is a good example for the commitments and challenges of genetic epidemiological approaches to SNP genotyping for risk of breast cancer. "