Evidence map›Paper›PMID 34572941›Full record

ArticleCancers2021

Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.

Margherita Patruno, Simona De Summa, Nicoletta Resta, Mariapia Caputo, Silvia Costanzo, Maria Digennaro, Brunella Pilato, Rosanna Bagnulo, Antonino Pantaleo, Cristiano Simone and 5 more

Open access · goldAbstract read
In one paragraph

Article in Cancers, 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
0.9field-weighted citation impact, top 23% 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, 7 citations in OpenAlex.

  1. Cancers · 2025
    Article
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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

15 authors at 5 institutions in 1 country.

Margherita PatrunoCenter for Hereditary Tumors Research, Istituto Tumori Bari, Giovani Paolo II, IRCCS, 70124 Bari, Italy.ORCID 0000-0001-8231-596X
Simona De SummaMolecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-IstitutoTumori "Giovanni Paolo II", 70124 Bari, Italy.ORCID 0000-0001-9607-3754
Nicoletta RestaMedical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital Bari, 70124 Bari, Italy.ORCID 0000-0001-8640-5532
Mariapia CaputoMolecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-IstitutoTumori "Giovanni Paolo II", 70124 Bari, Italy.
Silvia CostanzoCenter for Hereditary Tumors Research, Istituto Tumori Bari, Giovani Paolo II, IRCCS, 70124 Bari, Italy.ORCID 0000-0003-1859-3281
Maria DigennaroCenter for Hereditary Tumors Research, Istituto Tumori Bari, Giovani Paolo II, IRCCS, 70124 Bari, Italy.
Brunella PilatoMolecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-IstitutoTumori "Giovanni Paolo II", 70124 Bari, Italy.
Rosanna BagnuloMedical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital Bari, 70124 Bari, Italy.
Antonino PantaleoMedical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital Bari, 70124 Bari, Italy.ORCID 0000-0001-9260-8109
Cristiano SimoneMedical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital Bari, 70124 Bari, Italy.
Maria Iole NatalicchioSection of Clinic Pathology, OO.RR., 71122 Foggia, Italy.
Elisabetta De MatteisOncology Unit, "Vito Fazzi" Hospital, 73100 Lecce, Italy.
Paolo TarantinoMedical Genetics Unit, "Vito Fazzi" Hospital, 73100 Lecce, Italy.
Stefania TommasiMolecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-IstitutoTumori "Giovanni Paolo II", 70124 Bari, Italy.ORCID 0000-0002-2157-2978
Angelo ParadisoCenter for Hereditary Tumors Research, Istituto Tumori Bari, Giovani Paolo II, IRCCS, 70124 Bari, Italy.ORCID 0000-0001-6495-2295
Istituto Tumori Bari · ITUniversity of Bari Aldo Moro · ITOspedale Vito Fazzi · ITGastroenterology Hospital "Saverio de Bellis" · ITUniversity of Foggia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype-phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (

Indexed as

Apulian populationBRCA1BRCA2geographic distributionhereditary breast and ovarian cancersouthern Italy

Identifiers

PMID34572941
PMCPMC8467705
OpenAlexW3199999003

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.