Evidence map›Paper›PMID 38929805›Full record

ArticleJournal of personalized medicine2024

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients.

Maria Valeria Freire, Marie Martin, Karin Segers, Edith Sepulchre, Natacha Leroi, Jérôme Coupier, Hassan Rezaei Kalantari, Pascal Wolter, Joëlle Collignon, Marc Polus and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of personalized medicine, 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. 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

13 authors.

Maria Valeria FreireDepartment of Human Genetics, GIGA Research Center, University of Liège and CHU Liège, Av. Hippocrate 1/11, 4000 Liège, Belgium.ORCID 0000-0002-2492-5169
Marie MartinDepartment of Human Genetics, CHU Liège, Domaine Universitaire, 4000 Liège, Belgium.
Karin SegersDepartment of Human Genetics, CHU Liège, Domaine Universitaire, 4000 Liège, Belgium.
Edith SepulchreDepartment of Human Genetics, CHU Liège, Domaine Universitaire, 4000 Liège, Belgium.
Natacha LeroiDepartment of Human Genetics, CHU Liège, Domaine Universitaire, 4000 Liège, Belgium.
Jérôme CoupierDepartment of Human Genetics, CHU Liège, Domaine Universitaire, 4000 Liège, Belgium.ORCID 0000-0001-5381-1649
Hassan Rezaei KalantariOnco-Hematology Department, CHR Verviers, Rue du Parc 29, 4800 Verviers, Belgium.
Pascal WolterOnco-Hematology Department, St Nikolaus Hospital, Hufengasse 4/8, 4700 Eupen, Belgium.
Joëlle CollignonDepartment of Medical Oncology, GIGA Research Center, University of Liège and CHU Liège, Domaine Universitaire, 4000 Liège, Belgium.
Marc PolusDepartment of Gastroenterology, CHU Liège, Av. Hippocrate 1/11, 4000 Liège, Belgium.
Olivier PlomteuxGastro-Enterology Department, CHC, Boulevard Patience et Beaujonc 2, 4000 Liège, Belgium.
Claire JosseDepartment of Medical Oncology, GIGA Research Center, University of Liège and CHU Liège, Domaine Universitaire, 4000 Liège, Belgium.ORCID 0000-0003-0315-3718
Vincent BoursDepartment of Human Genetics, GIGA Research Center, University of Liège and CHU Liège, Av. Hippocrate 1/11, 4000 Liège, Belgium.

Funding

CHU Liège 981481200Televie fellowship 7451419FWALGEMED 1710180
6 · The paper itself

Abstract

BACKGROUND/

objectives

methodsPVs were identified using NGS DNA sequencing and were confirmed by Sanger.

resultsFamilies 1, 2, and 3 presented PVs in

conclusionsThe early age of diagnosis and the development of multiple cancers in the reported patients indicate a very high risk of cancer in double-heterozygous patients associated with PVs in HR-related CPGs. Therefore, in families with patients who differ from other family members in terms of phenotype, age of diagnosis, or type of cancer, the cascade testing needs to include the study of other CPGs.

Indexed as

ATMBRCA1BRCA2CHEK2digenic inheritancedouble heterozygosityfamilial cancer

Identifiers

PMID38929805
PMCPMC11204488

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.