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Article

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

Journal of human genetics - 1 Mar 2020

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

Abstract excerpt

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 interpretation of BRCA1/2 genetic variants and of reducing the number of variants of uncertain significance (VUSs). Two recent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 31907386
DOI: 10.1038/s10038-019-0713-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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