Evidence map›Paper›PMID 36833355›Full record

ArticleGenes2023

Hereditary Cancer Syndrome in a Family with Double Mutation in

Giovanna D'Elia, Gemma Caliendo, Luana Passariello, Luisa Albanese, Jasmine Makker, Anna Maria Molinari, Maria Teresa Vietri

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.5field-weighted citation impact, top 34% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

7 authors at 2 institutions in 2 countries.

Giovanna D'EliaUnity of Clinical and Molecular Pathology, AOU University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Gemma CaliendoUnity of Clinical and Molecular Pathology, AOU University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Luana PassarielloUnity of Clinical and Molecular Pathology, AOU University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Luisa AlbaneseUnity of Clinical and Molecular Pathology, AOU University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Jasmine MakkerDepartment of GKT, School of Medical Education, King's College London, London WC2R 2LS, UK.ORCID 0000-0002-5519-3351
Anna Maria MolinariUnity of Clinical and Molecular Pathology, AOU University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Maria Teresa VietriUnity of Clinical and Molecular Pathology, AOU University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
University of Campania "Luigi Vanvitelli" · ITKing's College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary cancer syndromes predispose to several types of cancer due to inherited pathogenic variants in susceptibility genes. We describe the case of a 57-year-old woman, diagnosed with breast cancer, and her family. The proband belongs to a family with a suspected tumor syndrome, due to other cancer cases in her family from the paternal and maternal sides. After oncogenetic counseling, she was subjected to mutational analysis with an NGS panel analyzing 27 genes. The genetic analysis showed two monoallelic mutations in low penetrance genes, c.1187G>A (p.G396D) in

Indexed as

Breast NeoplasmsNeoplastic Syndromes, HereditaryFamilyFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMutationBRIP1 genehereditary cancer syndromeMUTYH genenext-generation sequencingoncogenetic counselling

Identifiers

PMID36833355
PMCPMC9957058
OpenAlexW4319599215

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.