Evidence map›Paper›PMID 36232793›Full record

ArticleInternational journal of molecular sciences2022

Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?

Mar Infante, Mónica Arranz-Ledo, Enrique Lastra, Luis Enrique Abella, Raquel Ferreira, Marta Orozco, Lara Hernández, Noemí Martínez, Mercedes Durán

Open access · goldAbstract readCase Reports
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 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.4field-weighted citation impact, top 10% 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

12 citing papers in PubMed, 16 citations in OpenAlex.

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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

9 authors at 3 institutions in 1 country.

Mar InfanteCancer Genetics Group, Excellence Unit of the Institute of Biology and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa-CSIC), C/ Sanz y Forés 3, 47003 Valladolid, Spain.ORCID 0000-0002-7197-5249
Mónica Arranz-LedoCancer Genetics Group, Excellence Unit of the Institute of Biology and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa-CSIC), C/ Sanz y Forés 3, 47003 Valladolid, Spain.ORCID 0000-0002-1707-4001
Enrique LastraUnit of Genetic Counseling in Cancer, Burgos University Hospital, 09006 Burgos, Spain.ORCID 0000-0001-8813-9733
Luis Enrique AbellaUnit of Genetic Counseling in Cancer, Rio Hortega University Hospital, 47012 Valladolid, Spain.
Raquel FerreiraUnit of Genetic Counseling in Cancer, Rio Hortega University Hospital, 47012 Valladolid, Spain.
Marta OrozcoUnit of Genetic Counseling in Cancer, Rio Hortega University Hospital, 47012 Valladolid, Spain.
Lara HernándezCancer Genetics Group, Excellence Unit of the Institute of Biology and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa-CSIC), C/ Sanz y Forés 3, 47003 Valladolid, Spain.ORCID 0000-0002-7932-271X
Noemí MartínezCancer Genetics Group, Excellence Unit of the Institute of Biology and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa-CSIC), C/ Sanz y Forés 3, 47003 Valladolid, Spain.ORCID 0000-0002-8628-7449
Mercedes DuránCancer Genetics Group, Excellence Unit of the Institute of Biology and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa-CSIC), C/ Sanz y Forés 3, 47003 Valladolid, Spain.ORCID 0000-0002-6301-9732
Universidad de Valladolid · ESHospital Universitario Río Hortega · ESUniversidad de Burgos · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is uncommon, except in populations where founder effects exist. Two breast cancer women that are double heterozygotes (DH) for both

Indexed as

Breast NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisOvarian NeoplasmsBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenes, BRCA2Genetic Predisposition to DiseaseGenetic TestingHumansMismatch Repair Endonuclease PMS2MutationBRCA1 ProteinBRCA2 ProteinMismatch Repair Endonuclease PMS2double heterozygotesgenetic counselingHereditary Breast and Ovarian Cancer Syndrome (HBOC)Lynch Syndrome (LS)multi-gene panel testing

Identifiers

PMID36232793
PMCPMC9570103
OpenAlexW4297977854

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.