Evidence map›Paper›PMID 41294693›Full record

ArticleCurrent oncology (Toronto, Ont.)2025

Germline Mutations in DNA Repair Genes in Patients with Pancreatic Neuroendocrine Neoplasms: Diagnostic and Therapeutic Implications.

Beata Jurecka-Lubieniecka, Małgorzata Ros-Mazurczyk, Aleksandra Sygula, Alexander J Cortez, Marcela Krzempek, Anna B Tuleja, Agnieszka Kotecka-Blicharz, Marta Cieslicka, Malgorzata Oczko-Wojciechowska, Daria Handkiewicz-Junak

Abstract read
In one paragraph

Article in Current oncology (Toronto, Ont.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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.

Beata Jurecka-LubienieckaDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.
Małgorzata Ros-MazurczykDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.
Aleksandra SygulaDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.
Alexander J CortezDepartment of Biostatistics and Bioinformatics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.ORCID 0000-0003-1284-2638
Marcela KrzempekDepartment of Biostatistics and Bioinformatics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.ORCID 0000-0002-7253-826X
Anna B TulejaFaculty of Medicine, Wroclaw Medical University, 44-367 Wroclaw, Poland.
Agnieszka Kotecka-BlicharzDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.
Marta CieslickaDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.ORCID 0000-0002-7329-0980
Malgorzata Oczko-WojciechowskaDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.
Daria Handkiewicz-JunakDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, 44-102 Gliwice, Poland.

Funding

The Maria Sklodowska-Curie National Research Institute of Oncology SN/MGW5/2024
6 · The paper itself

Abstract

Pancreatic neuroendocrine neoplasms (pNENs) are the second most common type of pancreatic cancer after pancreatic ductal adenocarcinoma. Germline mutations in DNA repair genes drive several hereditary and sporadic cancers; however, their role in pNENs remains poorly defined. This pilot study aimed to assess the frequency and clinical relevance of germline DNA repair gene mutations in patients with pNENs, both with and without a family history of cancer. Germline DNA from 57 Polish patients with pNENs was analyzed using targeted next-generation sequencing to identify variants in a panel of DNA repair genes. Variant classification followed the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines. Germline mutations were identified in 14 patients (24.6%), both with and without a family history of malignancy. Two patients carried pathogenic variants in

Indexed as

DNA RepairGerm-Line MutationNeuroendocrine TumorsPancreatic NeoplasmsAdultAgedFemaleHumansMaleMiddle AgedPilot ProjectsBRCA2CHEK2DNA repair genesgermline mutationshereditary cancerpancreatic neuroendocrine neoplasmspNENPolish cohortprecision oncologytargeted sequencing

Identifiers

PMID41294693
PMCPMC12651336

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Registered trials

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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.