TY  - JOUR
AU  - Denisova, Evgeniya
AU  - Westphal, Dana
AU  - Surowy, Harald M
AU  - Meier, Friedegund
AU  - Hutter, Barbara
AU  - Reifenberger, Julia
AU  - Rütten, Arno
AU  - Schulz, Alexander
AU  - Sergon, Mildred
AU  - Ziemer, Mirjana
AU  - Brors, Benedikt
AU  - Betz, Regina C
AU  - Redler, Silke
TI  - Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
JO  - Cancer gene therapy
VL  - 29
IS  - 6
SN  - 1476-5500
CY  - New York, NY
PB  - Nature Publ. Group
M1  - DKFZ-2021-01191
SP  - 697-708
PY  - 2022
N1  - #EA:B330# / 2022 Jun;29(6):697-708
AB  - Malignant sweat gland tumours are rare, with the most common form being Eccrine porocarcinoma (EP). To investigate the mutational landscape of EP, we performed whole-exome sequencing (WES) on 14 formalin-fixed paraffin-embedded samples of matched primary EP and healthy surrounding tissue. Mutational profiling revealed a high overall median mutation rate. This was attributed to signatures of mutational processes related to ultraviolet (UV) exposure, APOBEC enzyme dysregulation, and defective homologous double-strand break repair. All of these processes cause genomic instability and are implicated in carcinogenesis. Recurrent driving somatic alterations were detected in the EP candidate drivers TP53, FAT2, CACNA1S, and KMT2D. The analyses also identified copy number alterations and recurrent gains and losses in several chromosomal regions including that containing BRCA2, as well as deleterious alterations in multiple HRR components. In accordance with this reduced or even a complete loss of BRCA2 protein expression was detected in 50
LB  - PUB:(DE-HGF)16
C6  - pmid:34045664
DO  - DOI:10.1038/s41417-021-00347-z
UR  - https://inrepo02.dkfz.de/record/169023
ER  -