Evidence map›Paper›PMID 40117483›Full record

ArticleMagyar onkologia2025

[Pathogenic role of CHEK2 variants in Hungarian cancer patients: implications for breast cancer risk and genetic counselling].

Petra Nagy, János Papp, Kornél Vince Grolmusz, Anikó Bozsik, Tímea Pócza, Attila Patócs, Henriett Butz

Abstract readEnglish Abstract
In one paragraph

Article in Magyar onkologia, 2025. 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
–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

0 citing papers in PubMed.

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.

Petra NagyMolekuláris Genetikai Osztály és Nemzeti Tumorbiológia Laboratórium, Országos Onkológia Intézet, Budapest, Hungary. butz.henriett@oncol.hu.
János PappMolekuláris Genetikai Osztály és Nemzeti Tumorbiológia Laboratórium, Országos Onkológia Intézet, Budapest, Hungary. butz.henriett@oncol.hu.
Kornél Vince GrolmuszMolekuláris Genetikai Osztály és Nemzeti Tumorbiológia Laboratórium, Országos Onkológia Intézet, Budapest, Hungary. butz.henriett@oncol.hu.
Anikó BozsikMolekuláris Genetikai Osztály és Nemzeti Tumorbiológia Laboratórium, Országos Onkológia Intézet, Budapest, Hungary. butz.henriett@oncol.hu.
Tímea PóczaMolekuláris Genetikai Osztály és Nemzeti Tumorbiológia Laboratórium, Országos Onkológia Intézet, Budapest, Hungary. butz.henriett@oncol.hu.
Attila PatócsMolekuláris Genetikai Osztály és Nemzeti Tumorbiológia Laboratórium, Országos Onkológia Intézet, Budapest, Hungary. butz.henriett@oncol.hu.
Henriett ButzMolekuláris Genetikai Osztály és Nemzeti Tumorbiológia Laboratórium, Országos Onkológia Intézet, Budapest, Hungary. butz.henriett@oncol.hu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimOur study assessed the prevalence of CHEK2 gene variants, including low-penetrance variants (lp-CHEK2: p.I157T, p.S428F, p.T476M) and their association with clinicopathological parameters in cancer patients and controls.

methodsGermline genetic analysis of 1,280 breast and ovarian cancer (BOC), 191 young breast (<33 years, yBr), 568 nonbreast (non-BOC) and 96 endocrine cancer patients was performed using the Illumina TruSight Hereditary Cancer Panel.

resultsCHEK2 disease-causing (pathogenic/likely pathogenic) variants were more frequent in the BOC and yBr groups (2 and 2.6%) compared to non-BOC and endocrine tumour patients (0.5% and 0%, p=0.049). Lp-CHEK2 variants were detected in 4% of all groups and associated with other disease-causing genetic abnormalities more often than pathogenic/likely pathogenic CHEK2 variants (16% vs. 1%, p<0.0001).

conclusionsDespite their frequent occurrence, lp-CHEK2 variants confer a negligible risk of breast cancer and show no association with other tumour types. Disease-causing CHEK2 variants, however, have implications for the clinical management of breast cancer patients according to current guidelines.

Indexed as

Breast NeoplasmsCheckpoint Kinase 2Genetic CounselingOvarian NeoplasmsAdultAgedFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansHungaryMiddle AgedCheckpoint Kinase 2CHEK2 protein, human

Identifiers

PMID40117483
PMCPMC11929572

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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.