Clinical practice of a genetics referral selection tool in pediatric cancer patients

DEMİRSOY U., Corapcioglu F.

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.64, no.3, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 64 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.1016/j.ejmg.2021.104167
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Kocaeli University Affiliated: Yes


There are few guidelines for genetic counseling and management of pediatric cancer patients with probable cancer predisposition. In this study, we used a previously proposed patient selection tool by Jongmans and discussed the findings in regard to pediatric cancer patients we treated. Pediatric solid tumor patients who were treated in Kocaeli University Department of Pediatric Oncology were evaluated with the five main questions in Jongmans? referral tool. All of the patients and records of diagnostic imaging were examined and analyzed. One-hundred-twenty-three patients participated in the study. The most common indication for genetic counseling was ?consanguinity of the parents? with ??2 malignancies at childhood age? following it. Fifty-two (42.28%) patients had indication for genetic counseling. We recommend developing and using genetics counseling selection tools such as Jongmans? which helps clinicians differentiate patients with probable cancer predisposition.