Evidence map›Paper›PMID 41986381›Full record

ReviewNPJ breast cancer2026

Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications.

Muthiah Bose, Elangoli Ebrahimkutty Faseela, Maria Rossing, Claus Storgaard Sørensen

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in NPJ breast cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Muthiah Bose *MDxCore, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Elangoli Ebrahimkutty Faseela *Biotech Research and Innovation Center (BRIC), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Maria RossingMDxCore, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. caroline.maria.rossing@regionh.dk.
Claus Storgaard SørensenBiotech Research and Innovation Center (BRIC), Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. claus.storgaard@bric.ku.dk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic variants perturbing BRCA1 and BRCA2 function are linked to hereditary breast and ovarian cancers. As BRCA1 and BRCA2 are critical for homologous recombination-mediated DNA repair, interpretation of variants of uncertain significance is essential. Here, we review established and emerging assays used to functionally characterize BRCA1 and BRCA2 variants and highlight the strengths and limitations of each approach, as well as their general relevance to variant classification and clinical applications.

Identifiers

PMID41986381
PMCPMC13458296

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.