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A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants.

Clinical laboratory - 1 Apr 2024

Kim Jin Ju, Kim Dong Ja, Nam Eon Jeong, Song Kyung Eun, Ham Ji Yeon, Kim Yu Kyung, Lee Nan Young

Abstract excerpt

BACKGROUND: Hereditary breast/ovarian cancer is associated with BRCA gene mutations. As large volumes of clinical data on BRCA variants are continuously updated, their clinical interpretation may change, leading to their reclassification. This study analyzed the class and proportion of the changed clinical interpretations of BRCA variants to validate the need for periodic reviews of these variants. METHODS: This...

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Identifiers

PMID: 38623660
DOI: 10.7754/Clin.Lab.2023.230911

Provenance

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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