Boris C. Bastian

This study shows WRN deficiency causes oncogenic rearrangements at TA-rich tandem repeats by destabilizing them, leading to chromosomal breaks and activation of TERT in melanoma.

The paper identifies distinct melanocyte subpopulations in human skin based on mutation burden, showing LowMut cells are stem-like and spatially distinct from HighMut cells.

This study uses multi-omic profiling to trace molecular changes in skin cells during carcinogenesis, identifying key mutations and spatial gene expression patterns in keratinocytes, actinic keratoses, and squamous cell carcinomas.

This study analyzes exome sequencing data from acral melanoma patients to identify distinct genetic evolution patterns compared to sun-exposed melanomas.

The paper investigates the role of TERT promoter mutations in dysplastic nevi and their association with senescence mechanisms and progression to melanoma.

The paper develops software to infer copy number and detect single nucleotide variants in spatial transcriptomics data, applied to skin cancer to reveal genetic patterns and clonal populations.

The paper develops HiDENSEC to analyze Hi-C data in heterogeneous cancer samples, identifying chromosomal rearrangements and their impact on melanoma progression.

This study genotypes individual melanocytes from human skin, revealing mutation patterns linked to sun exposure, skin cancer risk, and melanoma origins.