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Article

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Breast cancer research and treatment - 1 May 2017

Park Boyoung, Sohn Ji Yeon, Yoon Kyong-Ah, Lee Keun Seok, Cho Eun Hae, Lim Myong Cheol, Yang Moon Jung, Park Soo Jin, Lee Moo Hyun, Lee See Youn, Chang Yoon Jung, Lee Dong Ock, Kong Sun-Young, Lee Eun Sook

Abstract excerpt

PURPOSE: We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic. METHODS: In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe...

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Identifiers

PMID: 28205045
DOI: 10.1007/s10549-017-4142-7
PMCID: PMC5387004

Genes

BRCA1
BRCA2

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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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