New study suggests simple test could detect breast and ovarian cancer risk without genetic sequencing
1 / 1 Development of the BRCA-mt signature. UMAP representation of BRCA-mt and BRCA-wt samples from all evaluated cohorts without (a) and after (b) batch adjustment (N = 653). Volcano plots showing differentially expressed miRNAs between BRCA-mutated and wild-type samples without (c) and after (d) batch adjustment (N = 521); red markings represent miRNAs with P < 0.01 and FC > 1.5 or <0.66; purple markings denote ones that were significant in both comparisons. Limma package was used for between-group miRNA expression comparison, presented unadjusted P values, and FCs were calculated by limma algorithm. e Heatmap of 19 miRNAs with convergent BRCA-mt; BRCA-wt profiles regardless of data preprocessing. Clustering primarily by BRCA status with no clear pattern of BRCA1 or BRCA2 or interference by prior oophorectomy (N = 521). Euclidean distance and complete linkage were used to determine cluster structure. Credit: DOI: 10.1038/s41467-023-38925-4
Researchers from Dana-Farber Cancer Institute, Brigham and Women’s Hospital, and Medical University of Lodz have found a way to detect increased cancer risk associated with BRCA1 and BRCA2 mutations without genetic sequencing, according to a new study in Nature Communications. The assessment isn’t based on the presence of BRCA1/2 gene mutations. Rather, it’s based on functional changes that occur when the pathway those and other genes regulate is not working properly. “For the first time, we have found a signal in the blood to detect pathology associated with increased cancer risk,” says senior author and Dana-Farber researcher Dipanjan Chowdhury.
This new way of detecting risk could become the basis for a more accessible, affordable, and potentially more comprehensive way to detect an inherited risk of breast or ovarian cancer.
