New study suggests simple test could detect breast and ovariancancer risk without geneticsequencing danafarber NatureComms
. Whether alterations in the levels of these miRNAs are an adaptive response to genomic instability or they function as messengers between cells remains to be established in future studies.
Homologous recombination haploinsufficiency is characterized by increased risks of ovarian, breast, pancreatic and prostate cancer as well as sensitivity to DNA damaging agents and PARPi.
function through large-scale genomic rearrangements, promoter methylation, or mutations in less commonly mutated genes also in the HR repair pathway . The matter of deploying the proposed test in clinical practice would also need to consider calibrating its cutoff to specific needs of the tested population. For the general population with the prevalence of germlinemutations in the range of ~0.4%, the negative predictive value corresponding to a cutoff probability of 0.25 would be 99.6% and the positive predictive value would be 8.
We also acknowledge the study’s weaknesses. First, the presented models rely on next-generation sequencing . While the costs of this tool are coming down, and the use of NGS has entered some clinical applications , other platforms, such as qRT-PCR, might be more efficient. Considerable batch effects related mainly to the application of different sequencing platforms is an issue that cannot be ignored as a potential obstacle in the translation of our results.
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