Research Papers:

Common genetic variations in cell cycle and DNA repair pathways associated with pediatric brain tumor susceptibility

Maral Adel Fahmideh _, Catharina Lavebratt, Joachim Schüz, Martin Röösli, Tore Tynes, Michael A. Grotzer, Christoffer Johansen, Claudia E Kuehni, Birgitta Lannering, Michaela Prochazka, Lisbeth S Schmidt and Maria Feychting

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Oncotarget. 2016; 7:63640-63650. https://doi.org/10.18632/oncotarget.11575

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Maral Adel Fahmideh1, Catharina Lavebratt2, Joachim Schüz3, Martin Röösli4,5, Tore Tynes6,7, Michael A. Grotzer8, Christoffer Johansen9,10, Claudia E Kuehni11, Birgitta Lannering12, Michaela Prochazka1, Lisbeth S Schmidt13, Maria Feychting1

1Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, SE-171 77 Stockholm, Sweden

2Neurogenetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, and Center for Molecular Medicine, Karolinska University Hospital, L8:00, SE-171 76 Stockholm, Sweden

3Section of Environment and Radiation, International Agency for Research on Cancer (IARC), 69372 Lyon, France

4Department of Epidemiology and Public Health, Swiss Tropical and Public Health Institute, 4002 Basel, Switzerland

5University of Basel, 4003 Basel, Switzerland

6The Cancer Registry of Norway, NO-0379 Oslo, Norway

7National Institute of Occupational Health, NO-0360 Oslo, Norway

8Department of Oncology, University Children’s Hospital of Zurich, 8032 Zurich, Switzerland

9Unit of Survivorship, The Danish Cancer Society Research Centre, DK-2100 Copenhagen, Denmark

10Oncology Department, Finsen Centre, Rigshospitalet, DK-2100 Copenhagen, Denmark

11Swiss Childhood Cancer Registry, Institute of Social and Preventive Medicine, University of Bern, 3012 Bern, Switzerland

12Childrens Cancer Center, Queen Silvia Childrens Hospital, SE-416 85 Gothenburg, Sweden

13Department of Clinical Genetics, University Hospital Rigshospitalet, DK-2100 Copenhagen, Denmark

Correspondence to:

Maral Adel Fahmideh, email: [email protected]

Keywords: genetic association study, pediatric brain tumors, single nucleotide polymorphism, brain neoplasm, susceptibility

Received: June 14, 2016     Accepted: August 15, 2016     Published: August 24, 2016


Knowledge on the role of genetic polymorphisms in the etiology of pediatric brain tumors (PBTs) is limited. Therefore, we investigated the association between single nucleotide polymorphisms (SNPs), identified by candidate gene-association studies on adult brain tumors, and PBT risk.

The study is based on the largest series of PBT cases to date. Saliva DNA from 245 cases and 489 controls, aged 7–19 years at diagnosis/reference date, was genotyped for 68 SNPs. Data were analyzed using unconditional logistic regression.

The results showed EGFRrs730437 and EGFRrs11506105 may decrease susceptibility to PBTs, whereas ERCC1rs3212986 may increase risk of these tumors. Moreover, stratified analyses indicated CHAF1Ars243341, CHAF1Ars2992, and XRCC1rs25487 were associated with a decreased risk of astrocytoma subtype. Furthermore, an increased risk of non-astrocytoma subtype associated with EGFRrs9642393, EME1rs12450550, ATMrs170548, and GLTSCRrs1035938 as well as a decreased risk of this subtype associated with XRCC4rs7721416 and XRCC4rs2662242 were detected.

This study indicates SNPs in EGFR, ERCC1, CHAF1A, XRCC1, EME1, ATM, GLTSCR1, and XRCC4 may be associated with the risk of PBTs. Therefore, cell cycle and DNA repair pathways variations associated with susceptibility to adult brain tumors also seem to be associated with PBT risk, suggesting pediatric and adult brain tumors might share similar etiological pathways.

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