AUTHOREA
Log in Sign Up Browse Preprints
LOG IN SIGN UP
Margaret Nagel
Margaret Nagel

Public Documents 1
GERMLINE GENOMIC FINDINGS IN CHILDREN AND YOUNG ADULTS WITH MELANOCYTIC TUMORS
Margaret Nagel
Melissa R. Perrino

Margaret Nagel

and 6 more

October 03, 2022
In this retrospective study, we examined the prevalence and spectrum of germline variants in cancer predisposition genes in 38 children and young adults with melanocytic lesions who underwent germline genetic testing at St. Jude Children’s Research Hospital. Diagnoses included malignant melanoma (n=19; 50%), spitzoid melanoma (n=14; 37%), and uveal melanoma (n=5; 13%). Five patients (13%) harbored pathogenic variants: one with bi-allelic PMS2, and one each with heterozygous 17q21.31 deletion, TP53, BRIP1, and ATM pathogenic variants. In this convenience cohort, 13% of children and young adults with melanoma who underwent germline testing harbored an underlying cancer predisposition syndrome.

| Powered by Authorea.com

  • Home