Evidence map›Paper›PMID 32152249›Full record

ReviewJournal of medical genetics2020

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.

Alvaro N Monteiro, Peter Bouwman, Arne N Kousholt, Diana M Eccles, Gael A Millot, Jean-Yves Masson, Marjanka K Schmidt, Shyam K Sharan, Ralph Scully, Lisa Wiesmüller and 2 more

Open access · bronzeAbstract readReview
In one paragraph

Review in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
6.7field-weighted citation impact, top 3% 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

32 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.

  1. Pooled it
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  16. Hereditary cancer syndromes.World journal of clinical oncology · 2023
    Review
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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

12 authors at 10 institutions in 9 countries.

Alvaro N MonteiroCancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA Alvaro.Monteiro@Moffitt.org M.P.G.Vreeswijk@lumc.nl.ORCID 0000-0002-8448-4801
Peter BouwmanDivision of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.ORCID 0000-0003-0920-8433
Arne N KousholtDivision of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.ORCID 0000-0002-3972-1740
Diana M EcclesCancer Sciences, University of Southampton Faculty of Medicine, Southampton, UK.ORCID 0000-0002-9935-3169
Gael A MillotHub-DBC, Institut Pasteur, USR 3756 CNRS, Paris, France.ORCID 0000-0002-0591-3509
Jean-Yves MassonCHU de Québec-Université Laval, Oncology Division, Laval University Cancer Research Center, Quebec City, Quebec, Canada.ORCID 0000-0002-4403-7169
Marjanka K SchmidtDivision of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.ORCID 0000-0002-2228-429X
Shyam K SharanNational Cancer Institute at Frederick, Frederick, Maryland, USA.ORCID 0000-0002-9333-870X
Ralph ScullyBeth Israel Deaconess Medical Center, Boston, Massachusetts, USA.ORCID 0000-0002-5064-0175
Lisa WiesmüllerUlm University, Ulm, Baden-Württemberg, Germany.ORCID 0000-0002-2397-5041
Fergus CouchMayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0001-9417-9985
Maaike P G VreeswijkHuman Genetics, Leiden University Medical Center, Leiden, The Netherlands Alvaro.Monteiro@Moffitt.org M.P.G.Vreeswijk@lumc.nl.ORCID 0000-0003-4068-9271
The Netherlands Cancer Institute · NLBeth Israel Deaconess Medical Center · USCancer Institute (WIA) · INCancer Research Center · USCentre National de la Recherche Scientifique · FRLeiden University Medical Center · NLMayo Clinic · USMoffitt Cancer Center · USUniversität Ulm · DEUniversity of Southampton · GB

Funding

Functional Evaluation of BRCA2 Variants on TumorigenesisZIABC010387 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI SHARAN, SHYAM · 2009 to 2025
$12.5M
Functional Analysis of Variants Identified in Human Breast Cancer SusceptibilityZIABC011181 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI SHARAN, SHYAM · 2009 to 2025
$11.6M
ANALYSIS OF BRCA1 RECOMBINATION FUNCTIONSR01CA095175 · NCI · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SCULLY, RALPH · 2002 to 2021
$4.9M
BRCA2 missense mutations and breast cancerR01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2007 to 2011
$3.0M
NCI NIH HHS R01 CA095175NCI NIH HHS R01 CA116167
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic Predisposition to DiseaseBRCA1 ProteinBRCA2 ProteinFemaleHereditary Breast and Ovarian Cancer SyndromeHumansBRCA1 ProteinBRCA2 Proteincancer: breastclinical geneticsgenetic screening/counsellinggetting research into practicemolecular genetics

Identifiers

PMID32152249
PMCPMC7390672
OpenAlexW3010206546

What OpenQuestion holds

Textmetadata
LicenceTDM
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.