Evidence map›Paper›PMID 34299313›Full record

ArticleInternational journal of molecular sciences2021

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Chiara Guglielmi, Rosa Scarpitta, Gaetana Gambino, Eleonora Conti, Francesca Bellè, Mariella Tancredi, Tiziana Cervelli, Elisabetta Falaschi, Cinzia Cosini, Paolo Aretini and 16 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Review
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

26 authors at 7 institutions in 1 country.

Chiara GuglielmiSOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Rosa ScarpittaDivision of Pathology, University of Pisa, 56126 Pisa, Italy.
Gaetana GambinoDepartment of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Eleonora ContiSOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Francesca BellèFunctional Genetics and Genomics Laboratory, Institute of Clinical Physiology, IFC-CNR, 56127 Pisa, Italy.
Mariella TancrediSOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Tiziana CervelliFunctional Genetics and Genomics Laboratory, Institute of Clinical Physiology, IFC-CNR, 56127 Pisa, Italy.
Elisabetta FalaschiSOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Cinzia CosiniSOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Paolo AretiniSection of Oncological Genomics, Fondazione Pisana per la Scienza, 56017 Pisa, Italy.ORCID 0000-0003-1075-4319
Caterina CongregatiDivision of Internal Medicine, University Hospital of Pisa, 56126 Pisa, Italy.
Marco MarinoDepartment of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Margherita PatrunoIRCCS Istituto Tumori "Giovanni Paolo II", 70124 Bari, Italy.ORCID 0000-0001-8231-596X
Brunella PilatoIRCCS Istituto Tumori "Giovanni Paolo II", 70124 Bari, Italy.
Francesca SpinaSC Medical Genetics, ASSL Cagliari, 09126 Cagliari, Italy.
Luisa BalestrinoSC Medical Genetics, ASSL Cagliari, 09126 Cagliari, Italy.
Elena TenediniDepartment of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Ileana CarnevaliOspedale di Circolo ASST Settelaghi, 21100 Varese, Italy.
Laura CortesiDepartment of Oncology, Haematology and Respiratory Diseases, University Hospital of Modena, 41124 Modena, Italy.
Enrico TagliaficoDepartment of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.ORCID 0000-0003-0981-2542
Maria Grazia TibilettiOspedale di Circolo ASST Settelaghi, 21100 Varese, Italy.
Stefania TommasiIRCCS Istituto Tumori "Giovanni Paolo II", 70124 Bari, Italy.ORCID 0000-0002-2157-2978
Matteo GhilliBreast Cancer Center, University Hospital, 56126 Pisa, Italy.ORCID 0000-0001-5536-7377
Caterina VivanetSC Medical Genetics, ASSL Cagliari, 09126 Cagliari, Italy.
Alvaro GalliFunctional Genetics and Genomics Laboratory, Institute of Clinical Physiology, IFC-CNR, 56127 Pisa, Italy.ORCID 0000-0002-9091-5639
Maria Adelaide CaligoSOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.ORCID 0000-0003-0589-1829
Azienda Ospedaliera Universitaria Pisana · ITUniversity of Modena and Reggio Emilia · ITIstituto di Fisiologia Clinica · ITIstituto Tumori Bari · ITOspedale di Circolo e Fondazione Macchi · ITUniversity of Pisa · ITFondazione Pisa · IT

Funding

Fondazione Pisa n. 127/16
6 · The paper itself

Abstract

With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes (

Indexed as

AdultAge of OnsetCohort StudiesFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenetic VariationGerm-Line MutationHereditary Breast and Ovarian Cancer SyndromeHumansItalyMiddle AgedPenetrancePTEN PhosphohydrolaseRegulatory Sequences, Nucleic AcidPTEN PhosphohydrolasePTEN protein, humanBRCA1/2breast cancer predisposition genescoding variantsgene panelhereditary breast and ovarian cancerNGSnon-coding variantsregulatory regions

Identifiers

PMID34299313
PMCPMC8305371
OpenAlexW3184890419

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.