Genetic Mutation in Women with African Ancestry Linked to Breast Cancer Mortality

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According to a new study published in the journal BMC Medical Genomics, researchers at the University of Pennsylvania in Philadelphia, Pennsylvania have discovered 30 genetic mutations in microRNAs, regulatory molecules that influence the development and severity of cancer. In the study, researchers looked for microRNA variations in the genome sequences of 69 participants from Africa, the Americas, Asia, and Europe.


The researchers found 33 new variants and that many were more closely linked to certain populations over others. In addition, they found that African groups had more microRNA expression diversity compared with the other populations.


After identifying which microRNAs were overexpressed in which populations, they determined which genes these microRNAs inhibit. The research team found seven microRNA variants in certain ethnic populations that have been linked to numerous types of cancer, including breast, ovarian, and prostate cancers.


One particular microRNA mutation, miRNA 202, improves mortality in patients with breast cancer. MicroRNA 202 was found to be significantly underexpressed in African populations, thereby possibly explaining why women of African ancestry with breast cancer have reduced survival rates compared with women of European ancestry.

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30 genetic mutations in microRNAs that influence the development and severity of cancer.

One of the goals of genome sequencing is to identify genetic mutations associated with increased susceptibility to disease. Yet by and large these discoveries have been made in people of European or Asian ancestry, resulting in an incomplete picture of global genetic variation in disease vulnerability.

In a new study published in the journal BMC Medical Genomics, researchers at the University of Pennsylvania have addressed this omission. Their investigation identified more than 30 previously undescribed mutations in important regulatory molecules called microRNAs. Many of these mutations influence whether a person develops cancer or the severity of the disease.

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