Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.

Autor: Richardson ME; Ambry Genetics, Aliso Viejo, CA 92656, USA., Hu C; Mayo Clinic, Rochester, MN 55905, USA., Lee KY; Mayo Clinic, Rochester, MN 55905, USA., LaDuca H; Ambry Genetics, Aliso Viejo, CA 92656, USA., Fulk K; Ambry Genetics, Aliso Viejo, CA 92656, USA., Durda KM; Ambry Genetics, Aliso Viejo, CA 92656, USA., Deckman AM; Ambry Genetics, Aliso Viejo, CA 92656, USA., Goldgar DE; University of Utah, Salt Lake City, UT 84132, USA., Monteiro ANA; Moffitt Cancer Center, Tampa, FL 33612, USA., Gnanaolivu R; Mayo Clinic, Rochester, MN 55905, USA., Hart SN; Mayo Clinic, Rochester, MN 55905, USA., Polley EC; Mayo Clinic, Rochester, MN 55905, USA., Chao E; Ambry Genetics, Aliso Viejo, CA 92656, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA 92656, USA., Couch FJ; Mayo Clinic, Rochester, MN 55905, USA. Electronic address: couch.fergus@mayo.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 458-468. Date of Electronic Publication: 2021 Feb 19.