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Article

Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea.

BMC medical genetics - 28 Mar 2017

Kim Do-Hoon, Chae Hyojin, Jo Irene, Yoo Jaeeun, Lee Hyeyoung, Jang Woori, Park Joonhong, Lee Gun Dong, Jeon Dong-Seok, Lee Keun Ho, Hur Soo Young, Chae Byung Joo, Song Byung Joo, Kim Myungshin, Kim Yonggoo

Abstract excerpt

BACKGROUND: While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. METHODS: We performed multiplex ligation-dependent probe amplification assay for small-scale...

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Source

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Identifiers

PMID: 28351343
DOI: 10.1186/s12881-017-0398-3
PMCID: PMC5371242

Genes

BRCA1

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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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