Survival rates are worse in younger women, and a multivariate analysis has shown a younger age to be an independent predictor of an adverse outcome. This disease accounts for more than 40% of all cancers in women before the age of 40. Two million women were diagnosed with breast cancer worldwide in 2018 of which approximately 7% were diagnosed before the age of 40 and 22% before the age of 50. More than 90% of women diagnosed with breast cancer at the earliest stage survive the disease for at least five years, compared to a survival rate of around 15% of women diagnosed at the most advanced stage of disease. Our results demonstrate a differential abundance of splicing factor mRNA in the saliva of breast cancer patients.Īn early diagnosis is crucial to improve the morbidity and mortality of breast cancer. Recording the mRNA level of seven splicing factors in these samples demonstrated that the combination of all these factors is different in the two groups ( p value = 0.005). Next, we extracted RNA from 36 healthy subjects and 31 breast cancer patients. We found that the level of the splicing factors is unique to each woman and consistent in the same woman at different time points. For these reasons, we chose to focus on splicing factors as biomarkers for the early detection of breast cancer. Pre-mRNA splicing is a tightly regulated process and its misregulation in cancer cells promotes the formation of cancer-driving isoforms.
The 1254 transcripts identified were enriched for genes with an annotation of alternative pre-mRNA splicing. To this end, we sequenced RNA from a pool of ten women.
We set out to develop a test based on the detection of cell-free RNA from saliva. Screening mammography is recommended for women above 50 years however, 22% of breast cancer cases are diagnosed in women below this age. Breast cancer is the second leading cause of death in women above 60 years in the US.
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