A sobering thought as Mother’s Day approaches…
Breast cancer is the most common cancer in women worldwide, representing 25 percent of all cancers in women. According to World Cancer Research Fund International, nearly 1.7 new cases were diagnosed in 2012, making it the second most common cancer overall. According to the American Cancer Society, 1 in 8 U.S. women will develop invasive breast cancer over the course of her lifetime.
Scientists estimate that up to 10 percent of all breast cancers are hereditary. Two genes, BRCA1 and BRCA2, were identified in the 1990s as being responsible for up to 20 percent of inherited breast cancers. Since then, several other susceptibility genes have been identified, including ATM, CHEK2 and TP53. However, these genes only account for half of hereditary breast cancers. The remaining 50 percent are yet to be determined.
A team of researchers from Poland and Canada believe they have just identified another breast cancer susceptibility gene: RECQL.
To conduct their research, the scientists examined a group of 144 Polish and 51 French-Canadian breast cancer patients with similar genetic profiles. Each of these women had strong family histories of the disease, yet lacked any mutations in BRCA1, BRCA2 or other susceptibility genes.
The Polish women with an RECQL mutation had a fivefold increased risk for breast cancer, while the French women had a 50-fold increased risk. Overall, the researchers calculated that 50 percent of women with a RECQL mutation will develop breast cancer.
The team used whole-exome sequencing to conduct their research. (The “exome” is the part of a genome that contains the protein-encoding genes.) The Agilent SureSelect Human Exome Kit was used to capture target sequence regions.
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