We are interested in genetics of Non-Melanoma Skin Cancers (NMSCs), both sporadic and in the context of genetic disorders (Xeroderma Pigmentosum, Gorlin Syndrome). The main objectives of the laboratory is the identification of genetic mechanisms of tumorigenesis and the interplay between somatic “driver” mutations; investigation of the mutational processes in skin cancer, such as UV-light, Oxidative Stress, etc. To better understand genetic processes in NMSCs we combine several approaches such as genome sequencing, RNA-seq and Methylation profiling. Results of the study are put in the context of a large body of cancer genomic data from TCGA/ICGC consortium.

Recent publications:

1. Ximena Bonilla, Laurent Parmentier, Bryan King, Fedor Bezrukov, Gürkan Kaya, Vincent Zoete, Vladimir B. Seplyarskiy, Hayley J. Sharpe, Thomas McKee, Audrey Letourneau, Pascale G. Ribaux, Konstantin Popadin, Nicole Basset-Seguin, Rouaa Ben Chaabene, Maria  A. Andrianova, Michel Guipponi1, Marco Garieri, Carole Verdan, Kerstin Grosdemange,  Olga Sumara, Martin Eilers, Iannis Aifantis, Olivier Michielin, Frederic J. de Sauvage, Stylianos E. Antonarakis, Sergey I. Nikolaev. Genomic analysis identifies novel drivers and progression pathways in skin basal cell carcinoma. Nature Genetics. 48(4):398-406, 2016.
2. Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin Y; Antonarakis, Stylianos E; Bazykin, Georgii A; Nikolaev, Sergey I. APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication. Genome research, 26(2):174-82,2016
3. Nikolaev, Sergey I; Rimoldi, Donata; Iseli, Christian; Valsesia, Armand; Robyr, Daniel; Gehrig, Corinne; Harshman, Keith; Guipponi, Michel; Bukach, Olesya; Zoete, Vincent; Olivier Michielin, Katja Muehlethaler, Daniel Speiser, Jacques S. Beckmann, Ioannis Xenarios, Thanos D. Halazonetis, Victor Jongeneel, Bryan J. Stevenson, Stylianos E. Antonarakis. Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nature genetics, 44,2,133-139,2012
4. Nikolaev, Sergey I; Santoni, Federico; Vannier, Anne; Falconnet, Emilie; Giarin, Emanuela; Basso, Giuseppe; Hoischen, Alexander; Veltman, Joris A; Groet, Jurgen; Nizetic, Dean; Antonarakis Stylianos E. Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. Blood, 122,4,554-561,2013
5. Nikolaev, Sergey I; Garieri, Marco; Santoni, Federico; Falconnet, Emilie; Ribaux, Pascale; Guipponi, Michel; Murray, Aoife; Groet, Jürgen; Giarin, Emanuela; Basso, Giuseppe; Nizetic, Dean; Antonarakis Stylianos E. Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations. Nature communications, 5,2014
6. Andrianova Maria, Chetan Ghati Kasturirangan, Sibin Madathan Kandi, Mckee Thomas, Merkler Doron, Narasinga Rao K.V.L., Ribaux Pasсale, Blouin Jean-Louis, Makrythanasis Periklis, Seplyarskiy Vladimir B. , Antonarakis Stylianos E. and Nikolaev Sergey I. Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in the bMMRD syndrome brain tumors. J Pathol. 2017 Aug 14. doi: 10.1002/path.4957.