Evidence map›Paper›PMID 37239385›Full record

ReviewGenes2023

Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.

Mattia Garutti, Lorenzo Foffano, Roberta Mazzeo, Anna Michelotti, Lucia Da Ros, Alessandra Viel, Gianmaria Miolo, Alberto Zambelli, Fabio Puglisi

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
73citing papers in PubMed, 1 pooled it
30.1field-weighted citation impact, top 1% 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

73 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.

  1. Guideline
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  4. Review
  5. Potential advantage of clinical exome sequencing inJournal of medical genetics · 2026
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13 more citing papers are in PubMed but not listed here.

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

9 authors at 3 institutions in 1 country.

Mattia GaruttiCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.ORCID 0000-0002-4952-8610
Lorenzo FoffanoCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
Roberta MazzeoCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
Anna MichelottiCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.ORCID 0000-0002-2840-9751
Lucia Da RosCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
Alessandra VielUnit of Oncogenetics and Genomics CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
Gianmaria MioloCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.ORCID 0000-0001-5084-295X
Alberto ZambelliMedical Oncology and Hematology Unit, IRCCS-Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.ORCID 0000-0002-1374-1831
Fabio PuglisiCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.ORCID 0000-0003-0573-4938
Centro di Riferimento Oncologico · ITUniversity of Udine · ITHumanitas University · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary cancer syndromes account for nearly 10% of cancers even though they are often underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in terms of pharmacologic treatments, tailored preventive programs, and familiar cascade testing. However, diagnosing a hereditary cancer syndrome could be challenging because of a lack of validated testing criteria or because of their suboptimal performance. In addition, many clinicians are not sufficiently well trained to identify and select patients that could benefit from a genetic test. Herein, we searched the available literature to comprehensively review and categorize hereditary cancer syndromes affecting adults with the aim of helping clinicians in their daily clinical practice through a visual tool.

Indexed as

Genetic Predisposition to DiseaseNeoplastic Syndromes, HereditaryAdultGenetic TestingHumansBRCAbreast cancercancer geneticscancer predisposition syndromescolon cancerhereditary cancer syndromesLi–Fraumenilynch syndromemelanoma

Identifiers

PMID37239385
PMCPMC10218093
OpenAlexW4367626299

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.