Cited by 643BRCA gene mutations in cancerDNA Repair MechanismsPARP inhibition in cancer therapy

In search of the tumour-suppressor functions of BRCA1 and BRCA2

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Scully, Ralph, Livingston, David M.·2000·Nature

Abstract

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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Crossref · 10.1038/35044000

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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].”

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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
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
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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