Evidence map›Paper›PMID 35409408›Full record

ArticleInternational journal of molecular sciences2022

Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.

Francesca Bellè, Alberto Mercatanti, Samuele Lodovichi, Caterina Congregati, Chiara Guglielmi, Mariella Tancredi, Maria Adelaide Caligo, Tiziana Cervelli, Alvaro Galli

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 39% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Special Issue: "Yeast as a Model System to Study Human Diseases".International journal of molecular sciences · 2025
    Article
  3. Article
  4. Review
  5. 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

9 authors at 2 institutions in 1 country.

Francesca BellèYeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, CNR via Moruzzi 1, 56125 Pisa, Italy.
Alberto MercatantiYeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, CNR via Moruzzi 1, 56125 Pisa, Italy.ORCID 0000-0001-5110-9688
Samuele LodovichiYeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, CNR via Moruzzi 1, 56125 Pisa, Italy.ORCID 0000-0002-6780-7410
Caterina CongregatiDivision of Internal Medicine, University Hospital of Pisa, 56125 Pisa, Italy.
Chiara GuglielmiMolecular Genetics Unit, Department of Laboratory Medicine, University Hospital of Pisa, 56125 Pisa, Italy.
Mariella TancrediMolecular Genetics Unit, Department of Laboratory Medicine, University Hospital of Pisa, 56125 Pisa, Italy.
Maria Adelaide CaligoMolecular Genetics Unit, Department of Laboratory Medicine, University Hospital of Pisa, 56125 Pisa, Italy.ORCID 0000-0003-0589-1829
Tiziana CervelliYeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, CNR via Moruzzi 1, 56125 Pisa, Italy.ORCID 0000-0002-9997-1741
Alvaro GalliYeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, CNR via Moruzzi 1, 56125 Pisa, Italy.ORCID 0000-0002-9091-5639
Istituto di Fisiologia Clinica · ITAzienda Ospedaliera Universitaria Pisana · IT

Funding

Fondazione Pisa 127/16
6 · The paper itself

Abstract

Germline mutations in the BRCA1 gene have been reported to increase the lifetime risk of developing breast and/or ovarian cancer (BOC). By new sequencing technologies, numerous variants of uncertain significance (VUS) are identified. It is mandatory to develop new tools to evaluate their functional impact and pathogenicity. As the expression of pathogenic BRCA1 variants in

Indexed as

Breast NeoplasmsOvarian NeoplasmsBRCA1 ProteinBRCA2 ProteinFemaleGenes, BRCA1Genetic Predisposition to DiseaseHumansMutation, MissenseSaccharomyces cerevisiaeBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA1gene reversionhomologous recombinationmachine learningvariant classificationvariant of uncertain significanceyeast-based functional assays

Identifiers

PMID35409408
PMCPMC8999655
OpenAlexW4223612742

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.