domingo, 8 de octubre de 2023
Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives. Brandie Heald et al. J Natl Cancer Inst 2023 9
https://phgkb.cdc.gov/PHGKB/phgHome.action?query=Cascade%20Screening&action=search&Mysubmit=Search
From the abstract: "Cascade testing using multigene panels was performed in 3,696 relatives of 7,433 probands. Unexpected PGVs were identified in 230 (6.2%) relatives, including 144 who were negative for the familial PGV but positive for a PGV in a different gene than the proband and 74 who tested positive for the familial PGV and had an additional PGV in a different gene than the proband. Of the relatives with unexpected PGVs, 36.3% would have qualified for different or additional cancer screening recommendations. Limiting cascade testing to only the familial PGV would have resulted in missed, actionable findings for a subset of relatives."
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