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Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 1/2017

Open Access 01-12-2017 | Research

Clinical and genetic characterization of hereditary breast cancer in a Chinese population

Authors: Wenjing Jian, Kang Shao, Qi Qin, Xiaohong Wang, Shufen Song, Xianming Wang

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2017

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Abstract

Background

Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary nature of certain breast cancers. However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. There are few studies examining the role of these causative variants. Our study aimed to examine the clinical and genetic characterization of hereditary breast cancer in a Chinese population.

Methods

We tested a panel of 27 genes implicated in breast cancer risk in 240 participants using Next-Generation Sequencing. The prevalence of genetic causative variants was determined and the association between causative variants and clinico-pathological characteristics was analyzed.

Results

Causative variant rate was 19.2% in the breast cancer (case) group and 12.5% in the high-risk group. In the case group 2.5% of patients carried BRCA1 causative variant, 7.5% BRCA2 variants, 1.7% patients had MUTYH, CHEK or PALB2 variants, and 0.8% patients carried ATM, BARD1, NBN, RAD51C or TP53 variants. In the high-risk group 5.8% women carried MUTYH causative variants, 2.5% had causative variants in ATM, 1.7% patients had variants in BRCA2 and 0.8% in BARD1, BRIP1 or CDH1. There was no significant difference in the presence of causative variants among clinical stages of breast cancer, tumor size and lymph nodes status. However, eight of the 12 BRCA1/2 causative variants were found in the TNBC group.

Conclusions

We found increased genetic causative variants in the familial breast cancer group and in high-risk women with a family history of breast cancer. However, the variant MUTYH c.892-2A > G may not be directly associated with hereditary breast carcinoma.
Appendix
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Metadata
Title
Clinical and genetic characterization of hereditary breast cancer in a Chinese population
Authors
Wenjing Jian
Kang Shao
Qi Qin
Xiaohong Wang
Shufen Song
Xianming Wang
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2017
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/s13053-017-0079-4

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