دورية أكاديمية
Genome-wide analysis of constitutional DNA methylation in familial melanoma
| العنوان: | Genome-wide analysis of constitutional DNA methylation in familial melanoma |
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| المؤلفون: | Salgado, Catarina, Gruis, Nelleke, Heijmans, Bastiaan T, Oosting, Jan, van Doorn, Remco, Pool, Renée, van Dongen, Jenny, Hottenga, Jouke Jan, Boomsma, Dorret |
| المصدر: | Salgado , C , Gruis , N , Heijmans , B T , Oosting , J , van Doorn , R , BIOS Consortium , Pool , R , van Dongen , J , Hottenga , J J & Boomsma , D 2020 , ' Genome-wide analysis of constitutional DNA methylation in familial melanoma ' , Clinical epigenetics , vol. 12 , no. 1 , 43 , pp. 1-7 . https://doi.org/10.1186/s13148-020-00831-7Test |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Adult, Aged, CpG Islands, DNA Methylation, Genome, Human, Humans, Melanoma/genetics, Middle Aged, Promoter Regions, Genetic, Skin Neoplasms/genetics, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being |
| الوصف: | BACKGROUND: Heritable epigenetic alterations have been proposed as an explanation for familial clustering of melanoma. Here we performed genome-wide DNA methylation analysis on affected family members not carrying pathogenic variants in established melanoma susceptibility genes, compared with healthy volunteers. RESULTS: All melanoma susceptibility genes showed the absence of epimutations in familial melanoma patients, and no loss of imprinting was detected. Unbiased genome-wide DNA methylation analysis revealed significantly different levels of methylation in single CpG sites. The methylation level differences were small and did not affect reported tumour predisposition genes. CONCLUSION: Our results provide no support for heritable epimutations as a cause of familial melanoma. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://research.vu.nl/en/publications/8a782b81-8f64-44a7-8298-03fccac4ad4dTest |
| DOI: | 10.1186/s13148-020-00831-7 |
| الإتاحة: | https://doi.org/10.1186/s13148-020-00831-7Test https://research.vu.nl/en/publications/8a782b81-8f64-44a7-8298-03fccac4ad4dTest https://hdl.handle.net/1871.1/8a782b81-8f64-44a7-8298-03fccac4ad4dTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.66B509E |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s13148-020-00831-7 |
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