PMC:6037202 / 33111-33842 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6037202","sourcedb":"PMC","sourceid":"6037202","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6037202","text":"In our dataset, 52 truncating or splice-site variants were observed in 440 MPT probands, whereas 298 were observed in 8,992 gnomAD genomes; the latter is based on observed variant frequency estimates adjusted to reflect sex distribution of the MPT series (13.6% for the MPT dataset versus 3.3% for the gnomAD dataset; χ2 = 84.903, p = \u003c 0.0001). 41 truncating or splice-site CPG variants occurred in a proband with at least one tumor type uncharacteristic of the relevant CPG, and the frequency of such variants in these individuals was also compared with that in gnomAD. This was significantly higher in the MPT probands with uncharacteristic tumors than in gnomAD (41/440 [9.3%] versus 298/8,992 [3.3%]; χ2 = 43.642; p ≤ 0.0001).","tracks":[]}