Evidence map›Paper›PMID 34920368›Full record

ArticleBreast (Edinburgh, Scotland)2022

BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications.

Dafina Petrova, Maite Cruz, María-José Sánchez

Open access · goldAbstract readScoping Review
In one paragraph

Article in Breast (Edinburgh, Scotland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.7field-weighted citation impact, top 14% 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

7 citing papers in PubMed, 15 citations in OpenAlex.

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  6. Population-based germline testing ofGenetics in medicine open · 2024
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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

3 authors at 3 institutions in 1 country.

Dafina PetrovaInstituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain; Escuela Andaluza de Salud Pública, Granada, Spain; CIBER of Epidemiology and Public Health (CIBERESP), Madrid, Spain. Electronic address: dafina.petrova.easp@juntadeandalucia.es.
Maite CruzEscuela Andaluza de Salud Pública, Granada, Spain.
María-José SánchezInstituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain; Escuela Andaluza de Salud Pública, Granada, Spain; CIBER of Epidemiology and Public Health (CIBERESP), Madrid, Spain; Department of Preventive Medicine and Public Health, University of Granada, Granada, Spain.
Andalusian School of Public Health · ESInstituto de Investigación Biosanitaria de Granada · ESUniversidad de Granada · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutations in the genes called BRCA1 and BRCA2 are associated with significantly elevated lifetime risk of developing breast and ovarian cancer. This year marks 25 years since genetic tests for BRCA1/2 mutations became available to the public. Currently, comprehensive guidelines exist regarding BRCA1/2 testing and preventive measures in mutation carriers. As such, BRCA1/2 testing represents a precedent not only in genetic testing and management of genetic cancer risk, but also in bioethics. The goal of the current research was to offer a review and an ethical primer of the main ethical challenges related to BRCA testing.

methodA systematic scoping review was undertaken following the PRISMA Extension for Scoping Reviews (PRISMA-ScR). Four databases were searched and 18 articles that met the inclusion criteria were synthetized narratively into a conceptual map.

resultsEthical discussions revolved around the BRCA1/2 gene discovery, how tests are distributed for clinical use, the choice to undergo testing, unresolved issues in receiving and disclosing test results, reproductive decision-making, and culture-specific ethics. Several unique properties of the latest developments in testing circumstances (e.g., incorporation of BRCA1/2 testing in multi-gene or whole genome sequence panels and tests sold directly to consumers) significantly raised the complexity of ethical debates.

conclusionsMultidisciplinary ethical discussion is necessary to guide not only individual decision making but also societal practices and medical guidelines in light of the new technologies available and the latest results regarding psychological, social, and health outcomes in cancer previvors and survivors affected by BRCA mutations.

Indexed as

Breast NeoplasmsOvarian NeoplasmsBRCA1 ProteinBRCA2 ProteinFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenetic TestingHumansMutationBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human

Identifiers

PMID34920368
PMCPMC8686063
OpenAlexW4200614276

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.