In search of the tumour-suppressor functions of BRCA1 and BRCA2
Open accessAbstract
Hereditary breast and ovarian cancer syndromes can be caused by loss-of-function germline mutations in one of two tumour-suppressor genes, BRCA1 and BRCA2 (ref. 1). Each gene product interacts with recombination/DNA repair proteins in pathways that participate in preserving intact chromosome structure. However, it is unclear to what extent such functions specifically suppress breast and ovarian cancer. Here we analyse what is known of BRCA gene function and highlight some unanswered questions in the field.
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BRCA1 patient mutations are distributed throughout the gene and target the N-terminal RING and C-terminal BRCT domains.
“BRCA1 patient mutations were throughout the gene, targeting both the N-terminal RING and the C-terminal BRCT domains [34].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [34]
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Self-citation
- Authors
- Scully, R., & Livingston, D. M.
- Affiliations
- Harvard University (US)
- Corresponding author
- Scully, Ralph
- Venue
- Nature
- Published
- 2000-11
- Volume
- 408
- Issue
- 6811
- Pages
- 429-432
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2981135
- OpenAlex
- W1512321076
- Cited by
- 643
- References
- 42
- Citations by year
- 2026: 10 · 2025: 5 · 2024: 13 · 2023: 12 · 2022: 19 · 2021: 18 · 2020: 10 · 2019: 16 · 2018: 8 · 2017: 14 · 2016: 14 · 2015: 14 · 2014: 21 · 2013: 25 · 2012: 10
- FWCI
- 27.22
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Cancer Institute (K01CA079576)
- 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 › PARP inhibition in cancer therapy
- Keywords
- BRCA1, BRCA2, tumor suppressor function, hereditary breast cancer, hereditary ovarian cancer, germline mutations, DNA repair, recombination, chromosome stability, tumor suppression
- MeSH terms
- Chromatin, DNA, DNA-Directed DNA Polymerase, Female, Humans, Neoplasm Proteins, Neoplasms, Ovarian Neoplasms, Recombination, Genetic, Transcription Factors, Transcription, Genetic, Genes, Tumor Suppressor, S Phase, BRCA1 Protein, Genes, BRCA1, BRCA2 Protein
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