生殖系
医学
黑色素瘤
PMS2系统
种系突变
癌症
比较基因组杂交
皮肤病科
肿瘤科
遗传学
癌症研究
基因
内科学
突变
生物
结直肠癌
基因组
DNA错配修复
作者
Margaret Nagel,Melissa R. Perrino,Regina Nuccio,Alise Blake,Lyn Harrison,Kim E. Nichols,Alberto S. Pappo
摘要
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.
科研通智能强力驱动
Strongly Powered by AbleSci AI