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Genomic analysis of skin cancers from Xeroderma Pigmentosum subgroups revealed new mechanisms of UV mutagenesis

Presentation

Organizer: IRB BioMed Seminars

Date: Friday 8 July, 12:00h
Place: Felix Serratosa Hall, PCB

Speaker: Sergey Nikolaev, Ph.D.- Group Leader, Genomics of Non-Melanoma Skin Cancer, Gustave Roussy. Paris, France

Title: "Genomic analysis of skin cancer from Xeroderma Pigmentosum subgroups revealed new mechanisms of UV mutagenesis"

Host: Fran Supek, PhD 

 

Abstract:

Rare autosomal syndrome Xeroderma Pigmentosum (XP) is characterised by 1000 times increased risk of skin cancer due to the impaired Nucleotide Excision Repair (NER) pathway or translesion synthesis (polymerase eta). We assembled a unique collection of skin tumors (n=39) from five most frequent and cancer prone XP subgroups (XP-A, XP-C, XP-D, XP-D, XP-V) and performed whole genome sequencing to characterise in detail their genomic mutational landscapes comparing with tumour type matched sporadic cancers (n=139).

 

The ultramutated tumor phenotype was observed in the samples with impaired GG-NER and translesion synthesis (XP-V), while it was significantly lower and comparable with sporadic cancers in the groups with mutations in TFIIH-XPA complex. We studied then the differences in the mutational profiles between XP groups and revealed that UV light leaves different mutational footprints in the context of NER or polymerase eta deficiency. Lastly, we attempted to identify molecular mechanisms underlying differential UV mutagenesis between XP groups and sporadic skin cancer.

 

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