Evidence map›Paper›PMID 25327560›Full record

ArticleOncotarget2014

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).

Stian Knappskog, Liv B Gansmo, Khadizha Dibirova, Andres Metspalu, Cezary Cybulski, Paolo Peterlongo, Lauri Aaltonen, Lars Vatten, Pål Romundstad, Kristian Hveem and 27 more

Open access · diamondAbstract readMulticenter Study
In one paragraph

Article in Oncotarget, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 2 pooled it
2.4field-weighted citation impact, top 11% 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

17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.

  1. Pooled it
  2. Association of theDisease markers · 2016
    Pooled it
  3. Trial
  4. Trial
  5. Review
  6. Association of theInternational journal of molecular sciences · 2019
    Article
  7. Article
  8. Article
  9. Article
  10. Journal of Cancer · 2017
    Article
  11. Article
  12. The MDM4 SNP34091 (rs4245739) C-allele is associated with increased risk of ovarian-but not endometrial cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016
    Article
  13. The Role of MDM2 Amplification and Overexpression in Tumorigenesis.Cold Spring Harbor perspectives in medicine · 2016
    Review
  14. Article
  15. Article
  16. Article
  17. MDM2 SNP309 and risk of endometrial cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014
    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

37 authors at 20 institutions in 20 countries.

Stian KnappskogSection of Oncology, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway. Department of Oncology, Haukeland University Hospital, 5021 Bergen, Norway.
Liv B GansmoSection of Oncology, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway. Department of Oncology, Haukeland University Hospital, 5021 Bergen, Norway.
Khadizha DibirovaResearch Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia.
Andres MetspaluEstonian Genome Center, University of Tartu, Tartu, Estonia.
Cezary CybulskiDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Paolo PeterlongoIFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Lauri AaltonenDepartment of Medical Genetics, University of Helsinki, Helsinki 00014, Finland.
Lars VattenDepartment of Public Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim 7489, Norway.
Pål RomundstadDepartment of Public Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim 7489, Norway.
Kristian HveemDepartment of Public Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim 7489, Norway.
Peter DevileeDepartment of Human Genetics, Leiden University Medical Center, RC Leiden 2300, The Netherlands. Department of Pathology, Leiden University Medical Center, RC Leiden 2300, The Netherlands.
Gareth D EvansGenetic Medicine, MAHSC, University of Manchester, St. Mary's Hospital, Manchester, M13 OJH, UK.
Dongxin LinDepartment of Etiology and Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Guy Van CampDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Vangelis G ManolopoulosLaboratory of Pharmacology, Democritus University of Thrace Medical School, Alexandroupolis, Greece.
Ana OsorioHuman Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, CNIO, Madrid, Spain.
Lili MilaniEstonian Genome Center, University of Tartu, Tartu, Estonia.
Tayfun OzcelikBilkent University, Faculty of Science, Department of Molecular Biology and Genetics, Ankara, Turkey.
Pierre ZallouaLebanese American University, Chouran, Beirut, Lebanon.
Francis MouzayaLebanese American University, Chouran, Beirut, Lebanon.
Elena BliznetzResearch Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia.
Elena BalanovskaResearch Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia.
Elvira PocheshkovaKuban Medical University, Krasnodar, Russia.
Vaidutis KučinskasDepartment of Human and Medical Genetics, Vilnius University, Faculty of Medicine, Vilnius, Lithuania.
Lubov AtramentovaDepartment of Genetics and Cytology, Karazin Kharkiv National University, Kharkiv, Ukraine.
Pagbajabyn NymadawaMongolian Academy of Medical Sciences, Ulaanbaatar, Mongolia.
Konstantin TitovN.N. Blokhin Russian Cancer Research Center RAMS, Russia.
Maria LavryashinaKemerovo State University, Kemerovo, Russia.
Yuldash YusupovInstitute for Humanities Research of the Republic of Bashkortostan.
Natalia BogdanovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus. Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Sergey KoshelDepartment of Cartography, Lomonosov Moscow State University, Moscow, Russia.
Jorge ZamoraCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
David C WedgeCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Deborah CharlesworthUniversity of Edinburgh, Institute of Evolutionary Biology, Edinburgh, Midlothian, Scotland.
Thilo DörkDepartment of Obstetrics and Gynecology, Hannover Medical School, Hannover, Germany.
Oleg BalanovskyResearch Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia. Vavilov Institute of General Genetics RAS, Moscow, Russia.
Per E LønningSection of Oncology, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway. Department of Oncology, Haukeland University Hospital, 5021 Bergen, Norway.
Norwegian University of Science and Technology · NOResearch Centre for Medical Genetics · RULebanese American University · LBMedizinische Hochschule Hannover · DEUniversity of Tartu · EEWellcome Sanger Institute · GBAcademy of Sciences of the Republic of Bashkortostan · RUBilkent University · TRCentre for Cancer Biology · AUChinese Academy of Medical Sciences & Peking Union Medical College · CNDemocritus University of Thrace · GRFondazione IRCCS Istituto Nazionale dei Tumori · ITHaukeland University Hospital · NOInstitut de Biologia Evolutiva · ESInstituto de Salud Carlos III · ESInternational Hereditary Cancer Center · PLKemerovo State University · RUKuban State Medical University · RULeiden University Medical Center · NLLomonosov Moscow State University · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The MDM2 promoter SNP285C is located on the SNP309G allele. While SNP309G enhances Sp1 transcription factor binding and MDM2 transcription, SNP285C antagonizes Sp1 binding and reduces the risk of breast-, ovary- and endometrial cancer. Assessing SNP285 and 309 genotypes across 25 different ethnic populations (>10.000 individuals), the incidence of SNP285C was 6-8% across European populations except for Finns (1.2%) and Saami (0.3%). The incidence decreased towards the Middle-East and Eastern Russia, and SNP285C was absent among Han Chinese, Mongolians and African Americans. Interhaplotype variation analyses estimated SNP285C to have originated about 14,700 years ago (95% CI: 8,300 - 33,300). Both this estimate and the geographical distribution suggest SNP285C to have arisen after the separation between Caucasians and modern day East Asians (17,000 - 40,000 years ago). We observed a strong inverse correlation (r = -0.805; p < 0.001) between the percentage of SNP309G alleles harboring SNP285C and the MAF for SNP309G itself across different populations suggesting selection and environmental adaptation with respect to MDM2 expression in recent human evolution. In conclusion, we found SNP285C to be a pan-Caucasian variant. Ethnic variation regarding distribution of SNP285C needs to be taken into account when assessing the impact of MDM2 SNPs on cancer risk.

Indexed as

Polymorphism, Single NucleotideAsiaDatabases, GeneticData MiningEuropeGene FrequencyGenetic Predisposition to DiseaseHaplotypesHumansNeoplasmsPromoter Regions, GeneticProtective FactorsProto-Oncogene Proteins c-mdm2Risk AssessmentRisk FactorsWhite PeopleMDM2 protein, humanProto-Oncogene Proteins c-mdm2

Identifiers

PMID25327560
PMCPMC4226679
OpenAlexW1839304320

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.