Evidence map›Paper›PMID 21124932›Full record

ArticlePloS one2010

Exploring the link between germline and somatic genetic alterations in breast carcinogenesis.

Núria Bonifaci, Bohdan Górski, Bartlomiej Masojć, Dominika Wokołorczyk, Anna Jakubowska, Tadeusz Dębniak, Antoni Berenguer, Jordi Serra Musach, Joan Brunet, Joaquín Dopazo and 5 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

24 citing papers in PubMed, 41 citations in OpenAlex.

  1. Article
  2. Article
  3. Functional Roles of DYRK2 as a Tumor Regulator.Current issues in molecular biology · 2023
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  17. Therapeutic targeting of EPH receptors and their ligands.Nature reviews. Drug discovery · 2014
    Review
  18. Review
  19. Article
  20. Eph-dependent cell-cell adhesion and segregation in development and cancer.Cellular and molecular life sciences : CMLS · 2012
    Review
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

15 authors at 6 institutions in 3 countries.

Núria BonifaciBiomarkers and Susceptibility Unit, Spanish Biomedical Research Centre Network for Epidemiology and Public Health, Catalan Institute of Oncology, L'Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet, Barcelona, Spain.
Bohdan Górski
Bartlomiej Masojć
Dominika Wokołorczyk
Anna Jakubowska
Tadeusz Dębniak
Antoni Berenguer
Jordi Serra Musach
Joan Brunet
Joaquín Dopazo
Steven A Narod
Jan Lubiński
Conxi Lázaro
Cezary Cybulski
Miguel Angel Pujana
International Hereditary Cancer Center · PLInstitut Català d'Oncologia · ESInstitut d'Investigació Biomédica de Bellvitge · ESPomeranian Medical University · PLCentro de Investigacion Principe Felipe · ESWomen's College Hospital · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent genome-wide association studies (GWASs) have identified candidate genes contributing to cancer risk through low-penetrance mutations. Many of these genes were unexpected and, intriguingly, included well-known players in carcinogenesis at the somatic level. To assess the hypothesis of a germline-somatic link in carcinogenesis, we evaluated the distribution of somatic gene labels within the ordered results of a breast cancer risk GWAS. This analysis suggested frequent influence on risk of genetic variation in loci encoding for "driver kinases" (i.e., kinases encoded by genes that showed higher somatic mutation rates than expected by chance and, therefore, whose deregulation may contribute to cancer development and/or progression). Assessment of these predictions using a population-based case-control study in Poland replicated the association for rs3732568 in EPHB1 (odds ratio (OR) = 0.79; 95% confidence interval (CI): 0.63-0.98; P(trend) = 0.031). Analyses by early age at diagnosis and by estrogen receptor α (ERα) tumor status indicated potential associations for rs6852678 in CDKL2 (OR = 0.32, 95% CI: 0.10-1.00; P(recessive) = 0.044) and rs10878640 in DYRK2 (OR = 2.39, 95% CI: 1.32-4.30; P(dominant) = 0.003), and for rs12765929, rs9836340, rs4707795 in BMPR1A, EPHA3 and EPHA7, respectively (ERα tumor status P(interaction)<0.05). The identification of three novel candidates as EPH receptor genes might indicate a link between perturbed compartmentalization of early neoplastic lesions and breast cancer risk and progression. Together, these data may lay the foundations for replication in additional populations and could potentially increase our knowledge of the underlying molecular mechanisms of breast carcinogenesis.

Indexed as

Germ-Line MutationPolymorphism, Single NucleotideAdultBone Morphogenetic Protein Receptors, Type IBreastBreast NeoplasmsCalcium-Calmodulin-Dependent Protein KinasesCase-Control StudiesCyclin-Dependent KinasesDisease ProgressionDyrk KinasesEstrogen Receptor alphaFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyBMPR1A protein, humanBone Morphogenetic Protein Receptors, Type ICalcium-Calmodulin-Dependent Protein KinasesCDKL2 protein, humanCyclin-Dependent KinasesDyrk KinasesEPHA3 protein, humanEstrogen Receptor alphaProtein Serine-Threonine KinasesProtein-Tyrosine KinasesReceptor, EphA3Receptor, EphA7Receptor, EphB1Receptor Protein-Tyrosine Kinases

Identifiers

PMID21124932
PMCPMC2989917
OpenAlexW2018064805

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.