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000169023 1001_ $$0P:(DE-He78)1de6abf55d62da5d66dcc1fb53ebb7f8$$aDenisova, Evgeniya$$b0$$eFirst author$$udkfz
000169023 245__ $$aWhole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
000169023 260__ $$aNew York, NY$$bNature Publ. Group$$c2022
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000169023 500__ $$a#EA:B330# / 2022 Jun;29(6):697-708
000169023 520__ $$aMalignant sweat gland tumours are rare, with the most common form being Eccrine porocarcinoma (EP). To investigate the mutational landscape of EP, we performed whole-exome sequencing (WES) on 14 formalin-fixed paraffin-embedded samples of matched primary EP and healthy surrounding tissue. Mutational profiling revealed a high overall median mutation rate. This was attributed to signatures of mutational processes related to ultraviolet (UV) exposure, APOBEC enzyme dysregulation, and defective homologous double-strand break repair. All of these processes cause genomic instability and are implicated in carcinogenesis. Recurrent driving somatic alterations were detected in the EP candidate drivers TP53, FAT2, CACNA1S, and KMT2D. The analyses also identified copy number alterations and recurrent gains and losses in several chromosomal regions including that containing BRCA2, as well as deleterious alterations in multiple HRR components. In accordance with this reduced or even a complete loss of BRCA2 protein expression was detected in 50% of the investigated EP tumours. Our results implicate crucial oncogenic driver pathways and suggest that defective homologous double-strand break repair and the p53 pathway are involved in EP aetiology. Targeting of the p53 axis and PARP inhibition, and/or immunotherapy may represent promising treatment strategies.
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000169023 7001_ $$aWestphal, Dana$$b1
000169023 7001_ $$aSurowy, Harald M$$b2
000169023 7001_ $$aMeier, Friedegund$$b3
000169023 7001_ $$0P:(DE-He78)135e8c8d1dd1b66b8127c3d1e3a9b6a0$$aHutter, Barbara$$b4$$udkfz
000169023 7001_ $$aReifenberger, Julia$$b5
000169023 7001_ $$aRütten, Arno$$b6
000169023 7001_ $$aSchulz, Alexander$$b7
000169023 7001_ $$aSergon, Mildred$$b8
000169023 7001_ $$aZiemer, Mirjana$$b9
000169023 7001_ $$0P:(DE-He78)fc949170377b58098e46141d95c72661$$aBrors, Benedikt$$b10$$udkfz
000169023 7001_ $$00000-0001-5024-3623$$aBetz, Regina C$$b11
000169023 7001_ $$00000-0002-0991-252X$$aRedler, Silke$$b12
000169023 773__ $$0PERI:(DE-600)2004200-0$$a10.1038/s41417-021-00347-z$$n6$$p697-708$$tCancer gene therapy$$v29$$x1476-5500$$y2022
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