Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.

Autor: Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Huang H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Na J; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Lumby C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Abozaid M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Holdren MA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Rao TJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Karam R; Ambry Genetics, Aliso Viejo, CA 92656, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA 92656, USA., Weyandt JD; Ambry Genetics, Aliso Viejo, CA 92656, USA., Csuy CM; Ambry Genetics, Aliso Viejo, CA 92656, USA., Seelaus CA; Ambry Genetics, Aliso Viejo, CA 92656, USA., Young CC; Ambry Genetics, Aliso Viejo, CA 92656, USA., Fulk K; Ambry Genetics, Aliso Viejo, CA 92656, USA., Heidari Z; Ambry Genetics, Aliso Viejo, CA 92656, USA., Morais Lyra PC Jr; Cancer Epidemiology Program, Moffit Cancer Center, Tampa, FL 33612, USA., Couch RE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Persons B; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Polley EC; Department of Public Health Sciences, University of Chicago, Chicago, IL 60637, USA., Gnanaolivu RD; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Boddicker NJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Monteiro ANA; Cancer Epidemiology Program, Moffit Cancer Center, Tampa, FL 33612, USA., Yadav S; Department of Medical Oncology, Mayo Clinic, Rochester, MN 55902, USA., Domchek SM; Division of Hematology Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA., Richardson ME; Ambry Genetics, Aliso Viejo, CA 92656, USA., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA. Electronic address: couch.fergus@mayo.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Mar 07; Vol. 111 (3), pp. 584-593. Date of Electronic Publication: 2024 Feb 27.