Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer

• Published in: Journal of human genetics Vol. 65; no. 3; pp. 209 - 220
• Main Authors: 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, Son, Byung Ho, Jung, Kyung Hae, Kim, Yong-Man, Min, Won-Ki, Ahn, Sei-Hyun
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.03.2020
• Subjects: 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

The clinical utility of BRCA1/2 genotyping was recently extended from the selection of subjects at high risk for hereditary breast and ovary cancer to the identification of candidates for poly (ADP-ribose) polymerase (PARP) inhibitor treatment. This underscores the importance of accurate interpretat...