Evidence map›Paper›PMID 36980738›Full record

ArticleCancers2023

Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis.

Arianna Dal Buono, Laura Poliani, Luana Greco, Paolo Bianchi, Monica Barile, Valentina Giatti, Cristiana Bonifacio, Silvia Carrara, Alberto Malesci, Luigi Laghi

Open access · goldFull text read
In one paragraph

Article in Cancers, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
3.4field-weighted citation impact, top 7% 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

12 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Article
  7. Germline-Somatic Interactions in BRCA-Associated Cancers: Unique Molecular Profiles and Clinical Outcomes Linking ATM to TP53 Synthetic Essentiality.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Article
  8. Review
  9. Article
  10. Article
  11. Review
  12. Article
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

10 authors at 3 institutions in 1 country.

Arianna Dal BuonoDepartment of Gastroenterology, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.ORCID 0000-0002-8543-4355
Laura PolianiGastroenterology and Endoscopy, IRCCS Ospedale San Raffaele and University Vita-Salute San Raffaele, 20132 Milan, Italy.ORCID 0000-0001-7098-3450
Luana GrecoLaboratory of Molecular Gastroenterology, Department of Gastroenterology, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.ORCID 0000-0002-6507-3257
Paolo BianchiMedical Analysis Laboratory, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.
Monica BarileDepartment of Gastroenterology, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.
Valentina GiattiDepartment of Gastroenterology, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.
Cristiana BonifacioRadiology Department, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.
Silvia CarraraDepartment of Gastroenterology, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.
Alberto MalesciGastroenterology and Endoscopy, IRCCS Ospedale San Raffaele and University Vita-Salute San Raffaele, 20132 Milan, Italy.
Luigi LaghiLaboratory of Molecular Gastroenterology, Department of Gastroenterology, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.ORCID 0000-0003-4187-1059
IRCCS Humanitas Research Hospital · ITIRCCS Ospedale San Raffaele · ITUniversity of Parma · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We investigate the prevalence of germline mutations in cancer predisposition genes in patients with pancreatic ductal adenocarcinoma (PDAC) or suspected related hereditary syndromes.

methodswe enrolled for NGS with an Illumina TrueSight Cancer panel comprising 19 CPGs and 113 consecutive subjects referred to cancer genetic clinics for metastatic PDAC, early onset PDAC, suspected hereditary syndrome, or positive family history.

resultsOverall, 23 (20.1%) subjects were carriers of 24 pathogenetic variants (PVs). We found 9 variants in

conclusionA clinically relevant proportion of pancreatic cancer is associated with mutations in known predisposition genes. Guidelines instructing on an adequate selection for accessing genetic testing are eagerly needed. The heterogeneity of mutations identified in this study reinforces the value of using a multiple-gene panel in pancreatic cancer.

Indexed as

cancer predispositiongermline mutationhereditary syndromepancreatic cancerpathogenic variant

Identifiers

PMID36980738
PMCPMC10047356
OpenAlexW4327967140

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read55
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.