Trio sequencing in pediatric cancer and clinical implications
Abstract In pediatric cancer, we advocate for trio sequencing of the child and its parents. This method can have substantial implications for cancer prevention in parents and siblings and even in more distant family members. It does not only help to identify a putative classical cancer predispositio...
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| Format: | Article |
| Language: | English |
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Springer Nature
2018-03-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.201708641 |
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| _version_ | 1846165012893138944 |
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| author | Michaela Kuhlen Arndt Borkhardt |
| author_facet | Michaela Kuhlen Arndt Borkhardt |
| author_sort | Michaela Kuhlen |
| collection | DOAJ |
| description | Abstract In pediatric cancer, we advocate for trio sequencing of the child and its parents. This method can have substantial implications for cancer prevention in parents and siblings and even in more distant family members. It does not only help to identify a putative classical cancer predisposition syndrome in the index patient, but also detects the combinatorial effect of two independent risk variants in the same signaling pathway. This type of inheritance pattern could contribute to explaining the early occurrence of cancer in children and young adults and thereby inform early diagnosis, screening and preventive measures. |
| format | Article |
| id | doaj-art-ebab4ea91b77422e94d9a3b5a62c80a7 |
| institution | Kabale University |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2018-03-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-ebab4ea91b77422e94d9a3b5a62c80a72024-11-17T12:41:19ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842018-03-011041710.15252/emmm.201708641Trio sequencing in pediatric cancer and clinical implicationsMichaela Kuhlen0Arndt Borkhardt1Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich Heine UniversityDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich Heine UniversityAbstract In pediatric cancer, we advocate for trio sequencing of the child and its parents. This method can have substantial implications for cancer prevention in parents and siblings and even in more distant family members. It does not only help to identify a putative classical cancer predisposition syndrome in the index patient, but also detects the combinatorial effect of two independent risk variants in the same signaling pathway. This type of inheritance pattern could contribute to explaining the early occurrence of cancer in children and young adults and thereby inform early diagnosis, screening and preventive measures.https://doi.org/10.15252/emmm.201708641 |
| spellingShingle | Michaela Kuhlen Arndt Borkhardt Trio sequencing in pediatric cancer and clinical implications EMBO Molecular Medicine |
| title | Trio sequencing in pediatric cancer and clinical implications |
| title_full | Trio sequencing in pediatric cancer and clinical implications |
| title_fullStr | Trio sequencing in pediatric cancer and clinical implications |
| title_full_unstemmed | Trio sequencing in pediatric cancer and clinical implications |
| title_short | Trio sequencing in pediatric cancer and clinical implications |
| title_sort | trio sequencing in pediatric cancer and clinical implications |
| url | https://doi.org/10.15252/emmm.201708641 |
| work_keys_str_mv | AT michaelakuhlen triosequencinginpediatriccancerandclinicalimplications AT arndtborkhardt triosequencinginpediatriccancerandclinicalimplications |