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Article

Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2020

Han Eunhee, Yoo Jaeeun, Chae Hyojin, Lee Seungok, Kim Do-Hoon, Kim Kwang Joong, Kim Yonggoo, Kim Myungshin

Abstract excerpt

BACKGROUND: Germline mutations in BRCA1 and BRCA2 (BRCA1/2) have been conventionally analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Nowadays, next-generation sequencing (NGS) is increasingly being used in clinical genetics. The aim of this study was to evaluate the performance of NGS BRCA1/2 assays by comparing them with the conventional method. MATERIALS AND METHODS:...

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Identifiers

PMID: 32092317
DOI: 10.1016/j.cca.2020.02.023

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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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