Researchers have published findings of genetic evidence that confirms the role of the APOBEC family of genes in cancer development. The research is published in Nature Genetics. These genes control enzymes that are believed to fight viral infections. There has been speculation by the scientific community that that these enzymes may be responsible for mutations in approximately half of all cancer types. The research team studied the genomes of breast cancers in patients with a specific inherited deletion in two of these APOBEC genes. They found that these cancer genomes had a greater prevalence of the distinct mutational signature that is thought to be driven by the APOBEC family of genes.
This genetic deletion is found on chromosome 22 where the APOBEC genes, APOBEC3A and APOBEC3B, sit next to each other. It has been previously reported that women with this genetic deletion may be more susceptible to breast cancer. The team examined 923 samples of breast cancer worldwide and found more than 140 women with either one or two copies of the deletion on each chromosome. According to the researchers, breast cancer in women with the deletion had a greater quantity of mutations of this particular genetic signature.
Source: Wellcome Trust Sanger Institute