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Observational Study
. 2018 Jan;177(1):53-60.
doi: 10.1007/s00431-017-2997-6. Epub 2017 Sep 19.

Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES

Triantafyllia Brozou  1 , Julia Taeubner  1 , Eunike Velleuer  1 , Martin Dugas  2 , Dagmar Wieczorek  3 , Arndt Borkhardt  1 , Michaela Kuhlen  4
Affiliations
Observational Study

Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES

Triantafyllia Brozou et al. Eur J Pediatr. 2018 Jan.

Erratum in

Abstract

A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). The ratio of CPSs caused by inherited versus de novo germline mutations and the risk of recurrence in other children are unknown. We initiated a prospective study performing whole-exome sequencing (WES) of parent-child trios in children newly diagnosed with cancer. We initially aimed to determine the interest in and acceptance of trio WES among affected families and to systematically collect demographic, medical, and family history data to analyze whether these point to an underlying CPS. Between January 2015 and December 2016, 83 (88.3%) of 94 families participated; only 11 (11.7%) refused to participate. Five (6.0%) children presented with congenital malignancies and three (3.6%) with tumors with a high likelihood of an underlying CPS. Two (2.5%) families showed malignancies in family members < 18 years, 11 (13.8%) showed relatives < 45 years with cancer, 37 (46.3%) had a positive cancer history, and 14 (17.5%) families had > 1 relative with cancer.

Conclusions: Genetic testing in pediatric oncology is of great interest to the families, and the vast majority opts for investigation into potentially underlying CPSs. Trio sequencing provides unique insights into CPS in pediatric cancers and is increasingly becoming a common approach in modern oncology, and thus, trio sequencing needs also to be integrated routinely into the practice of pediatric oncology. What is Known: • A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). What is New: • Knowing about an underlying CPS and, thus, the risk of recurrence in other children is of great interest to affected families.

Keywords: Cancer predisposition syndrome; Children; Trio; Whole-exome sequencing.

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Conflict of interest statement

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from the parents and legal guardians respectively.

Figures

Fig. 1
Fig. 1
Overview of the bioinformatic pipeline
Fig. 2
Fig. 2
Overview on participation and refusal reasons of families with children with a newly diagnosed malignancy (n = 94)
Fig. 3
Fig. 3
a Overview of the diagnoses of children with cancer enrolled in the study (n = 83). b Overview of cancer diagnoses in first- or second-degree relatives. Same cancer entities were counted just once per family
See this image and copyright information in PMC

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