Evidence map›Paper›PMID 31337537›Full record

ReviewDNA repair2019

How do mutations affecting the breast cancer genes BRCA1 and BRCA2 cause cancer susceptibility?

Ashok R Venkitaraman

Open access · greenAbstract readReview
In one paragraph

Review in DNA repair, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed
7.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

48 citing papers in PubMed, 95 citations in OpenAlex.

  1. Tissue-Specific Prevalence and Clonal Architecture ofbioRxiv : the preprint server for biology · 2026
    Article
  2. Article
  3. Combinatorial chemistry & high throughput screening · 2026
    Article
  4. Review
  5. Article
  6. Article
  7. International journal of molecular sciences · 2025
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. BRCA1/2 Mutations and Breast/Ovarian Cancer Risk: A New Insights Review.Reproductive sciences (Thousand Oaks, Calif.) · 2024
    Review
  13. Article
  14. R-loop functions inProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Ashok R VenkitaramanMedical Research Council Cancer Unit, University of Cambridge, Box 197, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XZ, United Kingdom. Electronic address: arv22@mrc-cu.cam.ac.uk.
University of Cambridge · GB

Funding

Medical Research Council MC_U105359877Medical Research Council MC_UU_12022/1Medical Research Council MC_UU_12022/8
6 · The paper itself

Abstract

The inheritance of monoallelic germline mutations affecting BRCA1 or BRCA2 predisposes with a high penetrance to several forms of epithelial malignancy. The large, nuclear-localized BRCA proteins act as custodians of chromosome integrity through distinct functions in the assembly and activity of macromolecular complexes that mediate DNA repair, replication reactivation and mitotic progression. The loss of these tumour suppressive functions following biallelic BRCA gene inactivation has long been thought to provoke genomic instability and carcinogenesis. However, recent studies not only identify new functions for BRCA1 and BRCA2 in the regulation of transcription and RNA processing potentially relevant to their tumour suppressive activity, but also suggest that monoallelic BRCA2 gene mutations suffice for carcinogenesis. This emerging evidence opens fresh lines of enquiry concerning tissue-specific cancer evolution in BRCA mutation carriers. Collectively, these insights engender new models to explain how BRCA gene mutations cause cancer susceptibility in specific tissues.

Indexed as

DNA RepairMutationBRCA1 ProteinBRCA2 ProteinDNA ReplicationFemaleGenes, Tumor SuppressorGenetic Predisposition to DiseaseHumansNeoplasmsPolymorphism, Single NucleotideTranscription, GeneticBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2CarcinogenesisChromosome stabilityDNA repairDNA replicationR-loopsTranscription

Identifiers

PMID31337537
PMCPMC6765401
OpenAlexW2957868268

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.