Evidence map›Paper›PMID 34755241›Full record

ArticleBreast cancer research and treatment2022

A catalog of curated breast cancer genes.

Muthiah Bose, Jan Benada, Jayashree Vijay Thatte, Savvas Kinalis, Bent Ejlertsen, Finn Cilius Nielsen, Claus Storgaard Sørensen, Maria Rossing

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Breast cancer research and treatment, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Decoding the Epigenome of Breast Cancer.International journal of molecular sciences · 2025
    Review
  5. Article
  6. bioRxiv : the preprint server for biology · 2023
    Article
  7. Article
  8. Obesity as a Risk Factor for Breast Cancer-The Role of miRNA.International journal of molecular sciences · 2022
    Review
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

8 authors.

Muthiah BoseBiotech Research and Innovation Centre (BRIC), Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark.
Jan Benada *Biotech Research and Innovation Centre (BRIC), Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark.
Jayashree Vijay Thatte *Biotech Research and Innovation Centre (BRIC), Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark.
Savvas KinalisCentre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Bent EjlertsenDepartment of Clinical Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Finn Cilius NielsenCentre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Claus Storgaard SørensenBiotech Research and Innovation Centre (BRIC), Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark.
Maria RossingCentre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark. Caroline.maria.rossing@regionh.dk.ORCID http://orcid.org/0000-0003-4325-3027

Funding

kræftens bekæmpelse R204-A12415kræftens bekæmpelse R269-A15884lundbeckfonden R223-2016-956Marie Curie 896102
6 · The paper itself

Abstract

purposeDecades of research have identified multiple genetic variants associated with breast cancer etiology. However, there is no database that archives breast cancer genes and variants responsible for predisposition. We set out to build a dynamic repository of curated breast cancer genes.

methodsA comprehensive literature search was performed in PubMed and Google Scholar, followed by data extraction and harmonization for downstream analysis.

resultsUsing a subset of 345 studies, we cataloged 652 breast cancer-associated loci across the genome. A majority of these were present in the non-coding region (i.e., intergenic (101) and intronic (345)), whereas only 158 were located within an exon. Using the odds ratio, we identified 429 loci to increase the disease risk and 198 to confer protection against breast cancer, whereas 25 were identified to both increase disease risk and confer protection against breast cancer. Chromosomal ideogram analysis indicated that chromosomes 17 and 19 have the highest density of breast cancer loci. We manually annotated and collated breast cancer genes in which a previous association between rare-monogenic variant and breast cancer has been documented. Finally, network and functional enrichment analysis revealed that steroid metabolism and DNA repair pathways were predominant among breast cancer genes and variants.

conclusionsWe have built an online interactive catalog of curated breast cancer genes ( https://cbcg.dk ). This will expedite clinical diagnostics and support the ongoing efforts in managing breast cancer etiology. Moreover, the database will serve as an essential repository when designing new breast cancer multigene panels.

Indexed as

Breast NeoplasmsFemaleGenetic Predisposition to DiseaseGenotypeHumansPolymorphism, Single NucleotideBreast cancerCommon-polygenic variantsDatabaseDNA repair pathwaysGenetic predispositionRare-monogenic variants

Identifiers

PMID34755241
PMCPMC8763822

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Registered trials

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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.