Evidence map›Paper›PMID 39363506›Full record

ArticleJNCI cancer spectrum2024

Germline reflex BRCA1/2 testing following tumor-only comprehensive genomic profiling: why, when, and how.

Giulia Maneri, Camilla Nero, Luciano Giacò, Giovanni Scambia, Angelo Minucci

Abstract read
In one paragraph

Article in JNCI cancer spectrum, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Timing ofCancer control : journal of the Moffitt Cancer Center
    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

5 authors.

Giulia ManeriDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.ORCID 0000-0002-6455-8973
Camilla NeroDepartment of Woman, Child and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.ORCID 0000-0002-4442-4046
Luciano GiacòBioinformatics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Scientific Directorate, Policlinico Gemelli IRCCS Foundation, Rome, Italy.ORCID 0000-0003-0657-4323
Giovanni ScambiaDepartment of Woman, Child and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.ORCID 0000-0003-2758-1063
Angelo MinucciDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.ORCID 0000-0002-0833-4334

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The majority of tumor comprehensive genomic profiling (CGP) currently does not include a matched normal control. The use of a tumor-only CGP approach needs the development of a strategy to refine germline pathogenic/likely pathogenic variants (gP/LPVs) calls, so as to limit the performance of unnecessary germline reflex tests and instead successfully identify patients who are carriers of likely gP/LPVs. Guidelines have been developed for the identification of gP/LPVs in BRCA1/2 genes on the basis of tumor-only CGP results and for the evaluation of the appropriateness of performing germline reflex BRCA1/2 testing. In this study, an algorithm to assist decision-making for germline reflex testing of BRCA1/2 variants following tumor-only CGP is proposed.

Indexed as

Genetic TestingGerm-Line MutationAlgorithmsBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenomicsHumansOvarian NeoplasmsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human

Identifiers

PMID39363506
PMCPMC11512647

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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.