Evidence map›Paper›PMID 33333735›Full record

ArticleCancers2020

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the

Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Patricia Llovet, Beatriz Díez-Gómez, María José Caloca, Pedro Pérez-Segura, Eugenia Fraile-Bethencourt, Marta Colmena, Sara Carvalho and 6 more

Open access · goldAbstract read
In one paragraph

Article in Cancers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 26% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

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  15. Cancers · 2021
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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

16 authors at 4 institutions in 3 countries.

Lara Sanoguera-MirallesSplicing and Genetic Susceptibility to Cancer, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), 47003 Valladolid, Spain.ORCID 0000-0002-5548-7114
Alberto Valenzuela-PalomoSplicing and Genetic Susceptibility to Cancer, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), 47003 Valladolid, Spain.
Elena Bueno-MartínezSplicing and Genetic Susceptibility to Cancer, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), 47003 Valladolid, Spain.ORCID 0000-0003-4888-2885
Patricia LlovetMolecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), 28040 Madrid, Spain.ORCID 0000-0003-0190-2105
Beatriz Díez-GómezSplicing and Genetic Susceptibility to Cancer, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), 47003 Valladolid, Spain.
María José CalocaInstituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), 47003 Valladolid, Spain.
Pedro Pérez-SeguraMolecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), 28040 Madrid, Spain.
Eugenia Fraile-BethencourtSplicing and Genetic Susceptibility to Cancer, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), 47003 Valladolid, Spain.ORCID 0000-0001-8828-5992
Marta ColmenaMolecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), 28040 Madrid, Spain.
Sara CarvalhoCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Jamie AllenCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Peter DevileeLeiden University Medical Center, Department of Human Genetics, 2300RC Leiden, The Netherlands.ORCID 0000-0002-8023-2009
Maaike P G VreeswijkLeiden University Medical Center, Department of Human Genetics, 2300RC Leiden, The Netherlands.ORCID 0000-0003-4068-9271
Miguel de la HoyaMolecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), 28040 Madrid, Spain.ORCID 0000-0002-8113-1410
Eladio A VelascoSplicing and Genetic Susceptibility to Cancer, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), 47003 Valladolid, Spain.ORCID 0000-0002-9682-5589
Consejo Superior de Investigaciones Científicas · ESInstituto de Investigación Sanitaria del Hospital Clínico San Carlos · ESUniversity of Cambridge · GBLeiden University Medical Center · NL

Funding

Consejería de Educación, Junta de Castilla y León CSI242P18European Commission 634935Instituto de Salud Carlos III PI15/00059Instituto de Salud Carlos III PI17/00227
6 · The paper itself

Abstract

Hereditary breast and/or ovarian cancer is a highly heterogeneous disease with more than 10 known disease-associated genes. In the framework of the BRIDGES project (Breast Cancer Risk after Diagnostic Gene Sequencing), the

Indexed as

aberrant splicingbreast cancerclinical interpretationfunctional assaygenetic variantsminigeneovarian cancerRAD51Csplicingsusceptibility genesVUS

Identifiers

PMID33333735
PMCPMC7765170
OpenAlexW3113246809

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.