Association of novel MUC16, MAP3K15 and ABCA1 mutation with giant congenital melanocytic nevus

• Published in: Hereditas Vol. 159; no. 1; p. 33
• Main Authors: Zhou, Renpeng, Wang, Qirui, Hou, Jialin, Wang, Danru, Liang, Yimin
• Format: Journal Article
• Language: English
• Published: Lund BioMed Central 09.09.2022; BMC
• Subjects: ABCA1; ABCA1 protein; Adipose tissue; Algorithms; ATP-binding protein; Biomarkers; blood; Body fat; Brief Report; Genes; Genetic transformation; Giant congenital melanocytic nevus (GCMN); histology; histopathology; Kinases; MAP3K15; Melanoma; MUC16; Mutation; Nevus; Patients; Proteins; risk assessment; Skin cancer; therapeutics; Whole-exome sequencing (WES)

Background Giant congenital melanocytic nevus (GCMN) is the benign nevomelanocytic proliferation. Mutations in NRAS have been previously detected in GCMN, but mutations in BRAF are generally lacking in the Chinese population. Mutated genes in this disease can estimate the risk of malignant transform...