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Published in: Breast Cancer Research and Treatment 1/2014

01-07-2014 | Preclinical study

A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients

Authors: Moon-Woo Seong, Kyu Hyung Kim, Il Yong Chung, Eunyoung Kang, Jong Won Lee, Sue K. Park, Min Hyuk Lee, Jeong Eon Lee, Dong-Young Noh, Byung Ho Son, Hai-Lin Park, Sung Im Cho, Sung Sup Park, Sung-Won Kim, Korean Hereditary Breast Cancer Study Group

Published in: Breast Cancer Research and Treatment | Issue 1/2014

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Abstract

Triple-negative breast cancer (TNBC) accounts for 12–24 % of all breast cancers. Here, we studied 221 familial breast and/or ovarian cancer patients from 37 hospitals using a comprehensive approach to identify large genomic rearrangements (LGRs) as well as sequence variants, and investigated the association between BRCA1/2 mutational status and TNBC. We performed direct sequencing or mutation scanning followed by direct sequencing. Then, 143 BRCA1/2 mutation-negative patients were screened for LGRs. In this study, the prevalence of BRCA1/2 mutations was high (36.9 %). The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations: 49.4 versus 50.6 %, respectively. TNBC was diagnosed in 35.2 % of BRCA1/2 mutation carriers and 57.1 % of BRCA1 mutation carriers. Conversely, two-thirds of TNBC patients carried BRCA1/2 mutation(s), and about half were BRCA1 mutation carriers. When stratified by the mutated gene, TNBC prevalence in BRCA1 mutation carriers was significantly lower when there was a family history of ovarian cancer. Our multinomial logistic regression model demonstrated that no single factor was sufficient, and at least two factors, such as a patient with family history of both breast cancer and ovarian cancer or a patient diagnosed at a relatively young age (<40 years) with a TNBC phenotype, are necessary to indicate BRCA1/2 genetic testing in this population. Our results suggest that TNBC is a strong predictor for the presence of a BRCA1 mutation in this population, but additional risk factors should also be evaluated to ascertain a 10 % or higher prior probability of BRCA1/2 mutation testing.
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Metadata
Title
A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients
Authors
Moon-Woo Seong
Kyu Hyung Kim
Il Yong Chung
Eunyoung Kang
Jong Won Lee
Sue K. Park
Min Hyuk Lee
Jeong Eon Lee
Dong-Young Noh
Byung Ho Son
Hai-Lin Park
Sung Im Cho
Sung Sup Park
Sung-Won Kim
Korean Hereditary Breast Cancer Study Group
Publication date
01-07-2014
Publisher
Springer US
Published in
Breast Cancer Research and Treatment / Issue 1/2014
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-014-3006-7

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