Cited by 240DNA Repair MechanismsBRCA gene mutations in cancerPARP inhibition in cancer therapy

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The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations

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Cantor, Sharon, Drapkin, Ronny, Zhang, Fan, Lin, Yafang, Han, Juliana, Pamidi, Sushmita, Livingston, David M.·2004·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.0308717101PMC PMC356955

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Abstract

BACH1 is a nuclear protein that directly interacts with the highly conserved, C-terminal BRCT repeats of the tumor suppressor, BRCA1. Mutations within the BRCT repeats disrupt the interaction between BRCA1 and BACH1, lead to defects in DNA repair, and result in breast and ovarian cancer. BACH1 is necessary for efficient double-strand break repair in a manner that depends on its association with BRCA1. Moreover, some women with early-onset breast cancer and no abnormalities in either BRCA1 or BRCA2 carry germline BACH1 coding sequence changes, suggesting that abnormal BACH1 function contributes to tumor induction. Here, we show that BACH1 is both a DNA-dependent ATPase and a 5′-to-3′ DNA helicase. In two patients with early-onset breast cancer who carry distinct germline BACH1 coding sequence changes, the resulting proteins are defective in helicase activity, indicating that these sequence changes disrupt protein function. These results reinforce the notion that mutant BACH1 participates in breast cancer development.

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Authors: Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S., & Livingston, D. M.
Affiliations: Harvard University (US)
ORCID: Cantor, Sharon
Drapkin, Ronny
Zhang, Fan
Pamidi, Sushmita
Livingston, David M.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2004-02-17
Volume: 101
Issue: 8
Pages: 2357-2362
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.0308717101
PMC: PMC356955
OpenAlex: W2122003098
Cited by: 240
References: 44
Citations by year: 2026: 7 · 2025: 3 · 2024: 4 · 2023: 9 · 2022: 7 · 2021: 11 · 2020: 9 · 2019: 6 · 2018: 5 · 2017: 6 · 2016: 6 · 2015: 10 · 2014: 12 · 2013: 14 · 2012: 13
FWCI: 5.80
Type: journal article
Language: en
Update notices: correction (2004-04-27)
Open access: green
europepmc.org
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
The Journal of the American Medical Association (JAMA) Network (American Medical Association) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Health Sciences › Medicine › Oncology › PARP inhibition in cancer therapy
Keywords: BACH1, BRCA1, DNA helicase, DNA-dependent ATPase, germline mutations, early-onset breast cancer, ovarian cancer, DNA double-strand break repair, DNA repair, protein-protein interaction, hereditary cancer predisposition
MeSH terms: Adenosine Triphosphatases, DNA Helicases, Humans, Nuclear Proteins, Transcription Factors, Mutagenesis, Site-Directed, Leucine Zippers, Germ-Line Mutation, BRCA1 Protein, Amino Acid Substitution, Basic-Leucine Zipper Transcription Factors, Fanconi Anemia Complementation Group Proteins

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The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations

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