Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer - Kim, Hyun-Ki; Lee, Eun Jin; Lee, Young-Jae; Kim, Jisun; Kim, Yongsub; Kim, Kyunggon; Lee, Shin-Wha; Chang, Suhwan; Lee, Young Joo; Lee, Jong Won; Lee, Woochang; Chun, Sail; et al. (Journal of human genetics, 2020)
Keywords: Adult; Aged; Amino acids; AMP; BRCA1 protein; BRCA1 Protein - genetics; BRCA2 protein; BRCA2 Protein - genetics; Breast cancer; Breast Neoplasms - drug therapy; Breast Neoplasms - epidemiology; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Classification; Family medical history; Female; Genetic diversity; Genetic Predisposition to Disease; Genetic screening; Genetic Testing; Genetic Variation - genetics; Genetics; Genotype; Genotyping; Germ-Line Mutation - genetics; Humans; Laboratories; Medical schools; Medicine; Middle Aged; Mutation, Missense - genetics; Ovarian cancer; Ovarian Neoplasms - drug therapy; Ovarian Neoplasms - epidemiology; Ovarian Neoplasms - genetics; Ovarian Neoplasms - pathology; Patients; Poly(ADP-ribose) polymerase; Poly(ADP-ribose) Polymerase Inhibitors - therapeutic use; Poly(ADP-ribose) Polymerases - genetics; Proteins; Reclassification; Republic of Korea - epidemiology; Ribose; Stem cells; Studies; Republic of Korea