Evidence map›Paper›PMID 36833189›Full record

ArticleGenes2023

Functional Analyses of Rare Germline Missense

Henrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, Sarah Louise Ariansen, Wenche Sjursen, Marijke Van Ghelue, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Regulatory diversification of conservedZoological research · 2026
    Article
  2. Article
  3. Article
  4. 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

10 authors at 4 institutions in 1 country.

Henrikke Nilsen HovlandWestern Norway Familial Cancer Center, Haukeland University Hospital, 5021 Bergen, Norway.
Eunice Kabanyana MchainaWestern Norway Familial Cancer Center, Haukeland University Hospital, 5021 Bergen, Norway.
Hildegunn Høberg-VettiWestern Norway Familial Cancer Center, Haukeland University Hospital, 5021 Bergen, Norway.ORCID 0000-0002-9876-576X
Sarah Louise AriansenDepartment of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.
Wenche SjursenDepartment of Medical Genetics, St. Olavs University Hospital, 7006 Trondheim, Norway.
Marijke Van GhelueDepartment of Medical Genetics, University Hospital of North Norway, 9038 Tromsø, Norway.
Bjørn Ivar HaukanesDepartment of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.ORCID 0000-0003-1559-3366
Per Morten KnappskogDepartment of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
Ingvild AukrustDepartment of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
Elisabet OgnedalWestern Norway Familial Cancer Center, Haukeland University Hospital, 5021 Bergen, Norway.
Haukeland University Hospital · NONorwegian University of Science and Technology · NOOslo University Hospital · NOUniversity Hospital of North Norway · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The BRCA1 protein is implicated in numerous important cellular processes to prevent genomic instability and tumorigenesis, and pathogenic germline variants predispose carriers to hereditary breast and ovarian cancer (HBOC). Most functional studies of missense variants in

Indexed as

BRCA1 ProteinBreast NeoplasmsMutation, MissenseOvarian NeoplasmsFemaleGerm CellsHumansProtein DomainsBRCA1 ProteinBRCA1 protein, humanBRCA1breastfunctional assayshereditary cancerovarianvariants of uncertain significanceVUS

Identifiers

PMID36833189
PMCPMC9957003
OpenAlexW4317434610

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.