Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.

doi:10.1038/ng.3382

Article

Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.

Nature genetics - 1 Oct 2015

Shain A Hunter, Garrido Maria, Botton Thomas, Talevich Eric, Yeh Iwei, Sanborn J Zachary, Chung Jongsuk, Wang Nicholas J, Kakavand Hojabr, Mann Graham J, Thompson John F, Wiesner Thomas, Roy Ritu, Olshen Adam B, Gagnon Alexander, Gray Joe W, Huh Nam, Hur Joe S, Busam Klaus J, Scolyer Richard A, Cho Raymond J, Murali Rajmohan, Bastian Boris C

Abstract excerpt

Desmoplastic melanoma is an uncommon variant of melanoma with sarcomatous histology, distinct clinical behavior and unknown pathogenesis. We performed low-coverage genome and high-coverage exome sequencing of 20 desmoplastic melanomas, followed by targeted sequencing of 293 genes in a validation cohort of 42 cases. A high mutation burden (median of 62 mutations/Mb) ranked desmoplastic melanoma among the most...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.

Abstract excerpt

Topics

Related research