Prevalence of hereditary cancer susceptibility syndromes in children with cancer in a highly consanguineous population.

Cancer Epidemiol

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Consultant Pediatric Hematology/Oncology/BMT, Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.

Published: August 2018

Background & Aim: Hereditary cancer susceptibility syndromes (HCSS) are reported in up to one-third of children with cancer. Diagnosis of HCSS is crucial for implementation of surveillance protocols. We identified children who fulfilled criteria for HCSS in Saudi Arabia using the American College of Medical Genetics and Genomics (ACMG) guidelines, addressing the utility of these guidelines in a highly consanguineous population.

Methods: This multi-center cross-sectional study recruited 1858 children with cancer between January 2011 and December 2014. HCSS criteria were based on the ACMG guidelines.

Results: Seven hundred and four (40.4%) out of 1742 eligible patients fulfilled criteria for HCSS. Consanguinity was reported in 629 (38%) patients, with 50 (2.9%) first-degree, 535 (30.7%) second-degree, and 272 (15.6%) third-degree relatives affected with cancer. Two hundred and eighty eight (17.4%) leukemia and 87 (5.3%) brain tumour patients fulfilled HCSS criteria, with parental consanguinity being the most frequent criterion in both (leukemia 85.4%, brain tumors 83.9%). However, leukemia was less frequent in patients of consanguineous parents (p = 0.023).

Conclusion: Four out of 10 children with cancer fulfilled criteria for HCSS, most often due to consanguinity. This higher than expected prevalence suggests the need to validate consanguinity as a criterion for HCSS in highly consanguineous populations.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.canep.2018.05.006DOI Listing

Publication Analysis

Top Keywords

children cancer
16
highly consanguineous
12
fulfilled criteria
12
criteria hcss
12
hereditary cancer
8
cancer susceptibility
8
susceptibility syndromes
8
hcss
8
hcss criteria
8
patients fulfilled
8

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!