Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example.

Kari HemminkiAayushi SrivastavaSivaramakrishna RachakondaObul BandapalliEduardo NagoreAkseli HemminkiRajiv Kumar

Published in: Hereditary cancer in clinical practice (2020)

The pedigree data showed at the most a low penetrance variant, which, if taken into consideration, might have altered the provided diagnosis. When dealing with 'practically' unknown variants the counselors would be advised to incorporate a detailed family history rather than basing predictions on functionality provided by sequencing facilities.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
electronic health record
copy number
deep learning
skin cancer