AI Article Synopsis
- A study was conducted on 38 children and young adults with melanocytic lesions to investigate genetic variants linked to cancer at St. Jude Children's Research Hospital.
- The group included patients with various types of melanoma, including malignant melanoma, spitzoid melanoma, and uveal melanoma.
- About 15.8% of the patients were found to carry pathogenic germline variants associated with cancer, including notable genes like TP53, BRIP1, and ATM.
Article Abstract
In this retrospective study, we examined the prevalence and spectrum of germline variants in selected cancer predisposition genes in 38 children and young adults with melanocytic lesions at St. Jude Children's Research Hospital. Diagnoses included malignant melanoma (n = 16; 42%), spitzoid melanoma (n = 16; 42%), uveal melanoma (n = 5; 13%), and malignant melanoma arising in a giant congenital melanocytic nevus (n = 1; 3%). Six patients (15.8%) harbored pathogenic germline variants: one with bi-allelic PMS2 variants, one with a heterozygous 17q21.31 deletion, and one each with a pathogenic variant in TP53, BRIP1, ATM, or AXIN2. Overall, 15.8% of patients harbored a cancer-predisposing genetic variant.
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| http://dx.doi.org/10.1002/pbc.30361 | DOI Listing |
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