Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain

Glover, J. N. Mark

doi:10.1007/s10689-005-2579-z

Cited by 57BRCA gene mutations in cancerDNA Repair MechanismsCancer-related Molecular Pathways

Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain

Glover, J. N. Mark·2006·Familial Cancer

DOI 10.1007/s10689-005-2579-z

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Abstract

The C-terminal, BRCT repeats of BRCA1 are essential for the tumor suppressor function of this protein. Here we review structural and functional studies of this domain. Both repeats adopt similar folds and pack in an intimate, head-to-tail manner. The domain binds phosphorylated targets such as the DNA damage-associated kinase BACH1, with a specificity for pSer-X-X-Phe motifs. Structural studies reveal that the N-terminal repeat is responsible for pSer binding while a groove at the interface of the two repeats recognizes the Phe. Missense variants identified in breast cancer screening programs often disrupt these interactions and these molecular defects may lead to an increased cancer risk.

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BRCT domains are frequently affected by clinically important mutations, and most of these mutations disrupt the BRCT domain's phosphopeptide-binding surface.
“BRCT domains are frequently targeted by many clinically important mutations and most of these mutations disrupt the binding surface of the BRCT domains to phosphorylated peptides (Bouwman et al., 2013; Glover, 2006).”
From The BRCA1-Interacting Protein Abraxas Is Required for Genomic Stability and Tumor Suppression (2014) · cites this paper as Glover, 2006

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Authors: Glover, J. N. M.
Affiliations: University of Alberta (CA)
Corresponding author: Glover, J. N. Mark
ORCID: Glover, J. N. Mark
Venue: Familial Cancer
Publisher: Springer Science and Business Media LLC
Published: 2006-03
Volume: 5
Issue: 1
Pages: 89-93
ISSN: 1389-9600 (ISSN-L)
1573-7292
DOI: 10.1007/s10689-005-2579-z
OpenAlex: W2153525029
Cited by: 57
References: 23
Citations by year: 2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2022: 4 · 2021: 3 · 2020: 1 · 2018: 2 · 2017: 3 · 2016: 4 · 2014: 3 · 2013: 6 · 2012: 3
FWCI: 2.46
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Familial Cancer (publishedVersion)
PubMed (publishedVersion)
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 › Oncology › Cancer-related Molecular Pathways
Keywords: BRCA1, BRCT domain, hereditary breast cancer, tumor suppressor function, BACH1, protein structure, missense mutations, breast cancer screening, DNA damage response
MeSH terms: Breast Neoplasms, DNA Repair, DNA, Neoplasm, Female, Humans, Molecular Biology, Neoplastic Syndromes, Hereditary, Sensitivity and Specificity, Gene Expression Regulation, Neoplastic, BRCA1 Protein, Genetic Predisposition to Disease, Mutation, Missense, Intracellular Signaling Peptides and Proteins

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Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain

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