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Possible modification of BRSK1 on the risk of alkylating chemotherapy-related reduced ovarian function
ALF. van der Kooi, M. van Dijk, L. Broer, MH. van den Berg, JSE. Laven, FE. van Leeuwen, CB. Lambalk, A. Overbeek, JJ. Loonen, HJ. van der Pal, WJ. Tissing, B. Versluys, D. Bresters, CCM. Beerendonk, CR. Ronckers, M. van der Heiden-van der Loo,...
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, metaanalýza, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
U01 CA195547
NCI NIH HHS - United States
NLK
Free Medical Journals
od 1996 do Před 1 rokem
Open Access Digital Library
od 1996-01-01
PubMed
33582778
DOI
10.1093/humrep/deaa342
Knihovny.cz E-zdroje
- MeSH
- antimülleriánský hormon genetika MeSH
- dítě MeSH
- dospělí MeSH
- intracelulární signální peptidy a proteiny MeSH
- kohortové studie MeSH
- lidé MeSH
- mladiství MeSH
- ovariální rezerva * MeSH
- ovarium MeSH
- protein-serin-threoninkinasy MeSH
- retrospektivní studie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
STUDY QUESTION: Do genetic variations in the DNA damage response pathway modify the adverse effect of alkylating agents on ovarian function in female childhood cancer survivors (CCS)? SUMMARY ANSWER: Female CCS carrying a common BR serine/threonine kinase 1 (BRSK1) gene variant appear to be at 2.5-fold increased odds of reduced ovarian function after treatment with high doses of alkylating chemotherapy. WHAT IS KNOWN ALREADY: Female CCS show large inter-individual variability in the impact of DNA-damaging alkylating chemotherapy, given as treatment of childhood cancer, on adult ovarian function. Genetic variants in DNA repair genes affecting ovarian function might explain this variability. STUDY DESIGN, SIZE, DURATION: CCS for the discovery cohort were identified from the Dutch Childhood Oncology Group (DCOG) LATER VEVO-study, a multi-centre retrospective cohort study evaluating fertility, ovarian reserve and risk of premature menopause among adult female 5-year survivors of childhood cancer. Female 5-year CCS, diagnosed with cancer and treated with chemotherapy before the age of 25 years, and aged 18 years or older at time of study were enrolled in the current study. Results from the discovery Dutch DCOG-LATER VEVO cohort (n = 285) were validated in the pan-European PanCareLIFE (n = 465) and the USA-based St. Jude Lifetime Cohort (n = 391). PARTICIPANTS/MATERIALS, SETTING, METHODS: To evaluate ovarian function, anti-Müllerian hormone (AMH) levels were assessed in both the discovery cohort and the replication cohorts. Using additive genetic models in linear and logistic regression, five genetic variants involved in DNA damage response were analysed in relation to cyclophosphamide equivalent dose (CED) score and their impact on ovarian function. Results were then examined using fixed-effect meta-analysis. MAIN RESULTS AND THE ROLE OF CHANCE: Meta-analysis across the three independent cohorts showed a significant interaction effect (P = 3.0 × 10-4) between rs11668344 of BRSK1 (allele frequency = 0.34) among CCS treated with high-dose alkylating agents (CED score ≥8000 mg/m2), resulting in a 2.5-fold increased odds of a reduced ovarian function (lowest AMH tertile) for CCS carrying one G allele compared to CCS without this allele (odds ratio genotype AA: 2.01 vs AG: 5.00). LIMITATIONS, REASONS FOR CAUTION: While low AMH levels can also identify poor responders in assisted reproductive technology, it needs to be emphasized that AMH remains a surrogate marker of ovarian function. WIDER IMPLICATIONS OF THE FINDINGS: Further research, validating our findings and identifying additional risk-contributing genetic variants, may enable individualized counselling regarding treatment-related risks and necessity of fertility preservation procedures in girls with cancer. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by the PanCareLIFE project that has received funding from the European Union's Seventh Framework Programme for research, technological development and demonstration under grant agreement no 602030. In addition, the DCOG-LATER VEVO study was funded by the Dutch Cancer Society (Grant no. VU 2006-3622) and by the Children Cancer Free Foundation (Project no. 20) and the St Jude Lifetime cohort study by NCI U01 CA195547. The authors declare no competing interests. TRIAL REGISTRATION NUMBER: N/A.
Boyne Research Institute Drogheda Ireland
Brandenburg Medical School Neuruppin Germany
Danish Cancer Society Research Center Copenhagen Denmark
Department of Clinical Medicine Faculty of Health Aarhus University Aarhus Denmark
Department of Epidemiology and Cancer Control St Jude Children's Research Hospital Memphis TN USA
Department of Epidemiology Netherlands Cancer Institute Amsterdam The Netherlands
Department of Haematology Radboud University Medical Center Nijmegen The Netherlands
Department of Obstetrics and Gynaecology Radboud University Medical Center Nijmegen The Netherlands
Department of Oncology Oslo University Hospital Oslo Norway
Department of Oncology St Jude Children's Research Hospital Memphis TN USA
Department of Paediatric Oncology University Hospital St Etienne France
Department of Pediatric oncology Erasmus MC Sophia Children's Hospital Rotterdam The Netherlands
DOPO Clinic IRCCS Istituto Giannina Gaslini Genova Italy
Dutch Childhood Oncology Group Utrecht The Netherlands
Epidemiology and Biostatistics Unit IRCCS Istituto Giannina Gaslini Genova Italy
German Cancer Consortium DKTK Site Essen Essen Germany
Institute for Computing and Information Sciences Radboud University Nijmegen The Netherlands
Motol University Hospital Prague Czech Republic
Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands
University Hospital Essen Pediatrics 3 West German Cancer Centre Essen Germany
Willem Alexander Children's Hospital Leiden University Medical Center Leiden The Netherlands
Citace poskytuje Crossref.org
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