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Cited by 37BRCA gene mutations in cancerDNA Repair MechanismsGenetic factors in colorectal cancer

Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives

Cao, A-Yong, Huang, Juan, Hu, Zhen, Li, Wen-Feng, Ma, Zhong-Liang, Tang, Li-Li, Zhang, Bin, Su, Feng-Xi +10 more·2009·Breast Cancer Research and Treatment
DOI 10.1007/s10549-008-0052-z
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Abstract

The proper interaction between BRIP1/BACH1 and BRCA1 protein has been found to be crucial for BRCA1-mediated DNA double-strand break repair and BRIP1/BACH1 mutations were estimated to confer a relative risk for breast cancer of 2.0 in western populations. In Chinese population, BRCA1 mutations could explain a relatively large proportion of inherited breast cancer cases in comparison with BRCA2 mutations, which probably deduced a hypothesis that those genes involved in BRCA1-mediated DNA repair pathway might play a more significant role in the etiology of Chinese breast cancer. To investigate the contribution of BRIP1/BACH1 mutations to the predisposition of Chinese non-BRCA1/BRCA2 hereditary breast cancer, we screened all the coding exons and adjacent intronic splice junction regions of BRIP1/BACH1 in 357 Chinese women with early-onset breast cancer or affected relatives from five different breast disease clinical centers in China, using PCR-DHPLC and DNA sequencing analysis. Some genetic variants identified in the cases were then studied in 864 normal controls with no personal or family history of breast cancer. We found no protein-truncated mutations in our population, while a novel recurrent non-synonymous variant, Q944E, was detected in two independent families in contrast with none in the controls, interestingly, this alteration occurs in the BRCA1 binding domain of the BACH1 protein. Then a further study performed on the two mutation positive families revealed the partial co-segregation of this mutation allele with cancer. The novel alteration Q944E identified in our study possibly represents a rare disease-related allele, nevertheless functional analysis is still warranted to resolve the ability of this altered BACH1 protein to bind BRCA1. Altogether, the results of our study indicated that germline mutations in BRIP1/BACH were extremely rare in Chinese population and there was no evidence for the recommendation of BRIP1/BACH1 for genetic testing in Chinese.

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  • Tumor suppression likely requires both the helicase domain and nuclear co-localization with BRCA1, because variants in the nuclear localization sequence (A173C) or BRCA1-binding domain were detected in patients with a strong family history of breast cancer.

    “Tumor suppression likely requires not only the helicase domain, but also nuclear co-localization with BRCA1, given that variants with a sequence change in the nuclear localization sequence (A173C) [60] or BRCA1-binding domain were detected in patients with a strong family history of breast cancer [43,53].”

    From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [53]

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Authors
Cao, A.-Y., Huang, J., Hu, Z., Li, W.-F., Ma, Z.-L., Tang, L.-L., Zhang, B., Su, F.-X., Zhou, J., Di, G.-H., Shen, K.-W., Wu, J., Lu, J.-S., Luo, J.-M., Yuan, W.-T., Shen, Z.-Z., Huang, W., & Shao, Z.-M.
Affiliations
  • Shanghai Medical College of Fudan University (CN)
  • Central South University (CN)
  • Liaoning Cancer Hospital & Institute (CN)
  • Chinese National Human Genome Center at Shanghai (CN)
Corresponding author
Shao, Zhi-Ming
ORCID
Venue
Breast Cancer Research and Treatment
Publisher
Springer Science and Business Media LLC
Published
2008-05-16
Volume
115
Issue
1
Pages
51-55
ISSN
  • 0167-6806 (ISSN-L)
  • 1573-7217
DOI
10.1007/s10549-008-0052-z
OpenAlex
W1981123531
Cited by
37
References
20
Citations by year
2025: 1 · 2023: 1 · 2021: 1 · 2020: 1 · 2019: 3 · 2018: 1 · 2017: 3 · 2016: 3 · 2015: 2 · 2014: 3 · 2013: 3 · 2012: 4
FWCI
2.09
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Breast Cancer Research and Treatment (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Science Foundation
  • National Natural Science Foundation of China
  • Fudan University
  • National Key Research and Development Program of China
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords
BRIP1, BACH1, BRCA1, BRCA2, hereditary breast cancer, early-onset breast cancer, germline mutations, DNA double-strand break repair, Chinese women, genetic testing
MeSH terms
Adult, Alleles, Breast Neoplasms, China, DNA Mutational Analysis, DNA-Binding Proteins, Exons, Family Health, Female, Humans, Middle Aged, Germ-Line Mutation, Genes, BRCA1, RNA Helicases, Genes, BRCA2, Basic-Leucine Zipper Transcription Factors, Fanconi Anemia Complementation Group Proteins

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