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01.12.2018 | Research article | Ausgabe 1/2018 Open Access

BMC Cancer 1/2018

Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer

BMC Cancer > Ausgabe 1/2018
Ji Soo Park, Seung-Tae Lee, Eun Ji Nam, Jung Woo Han, Jung-Yun Lee, Jieun Kim, Tae Il Kim, Hyung Seok Park
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Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1186/​s12885-017-3940-y) contains supplementary material, which is available to authorized users.



We evaluated the incidence and spectrum of pathogenic and likely pathogenic variants of cancer susceptibility genes in BRCA1/2 mutation-negative Korean patients with a high risk for hereditary breast cancer using a comprehensive multigene panel that included 35 cancer susceptibility genes.


Samples from 120 patients who were negative for BRCA1/2 mutations, but had been diagnosed with breast cancer that was likely hereditary, were prospectively evaluated for the prevalence of high-penetrance and moderate-penetrance germline mutations.


Nine patients (7.5%) had at least one pathogenic or likely pathogenic variant. Ten variants were identified in these patients: TP53 in two patients, PALB2 in three patients, BARD1 in two patients, BRIP1 in two patients, and MRE11A in one patient. We also identified 30 types of 139 variants of unknown significance (VUS). High-penetrance germline mutations, including TP53 and PALB2, tended to occur with high frequency in young (< 35 years) breast cancer patients (4/19, 21.1%) than in those diagnosed with breast cancer at ≥35 years of age (1/101, 1.0%; p = 0.003).


These combined results demonstrate that multigene panels offer an alternative strategy for identifying veiled pathogenic and likely pathogenic mutations in breast cancer susceptibility genes.
Additional file 1: Figures S1 and S2. This file includes the methods detecting pathogenic variants and lage deletion in this study; depth of coverage and method for detection of large insertion-deletion of exon using next-generation sequencing, and confirmation of deleterious mutations using Sanger sequencing or MLPA in four patients. (PDF 1477 kb)
Additional file 2: Tables S1 and S2. This file includes two tables regarding baseline characteristics of study participants, possibly pathogenic variants and the classification according to ACMG guidelines mentied in the main manuscript. (DOCX 24 kb)
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