Case report: identification of a novel heterozygous germline ercc2 mutation in a patient with dermatofibrosarcoma protuberans

HIGHLIGHTS

  • who: Qing Zhang from the Oak Ridge Institute for Science and Education (ORISE), United States University of Tuscia, Italy have published the article: Case report: Identification of a novel heterozygous germline ERCC2 mutation in a patient with dermatofibrosarcoma protuberans, in the Journal: (JOURNAL)

SUMMARY

    There are more than 50 subtypes of soft tissue sarcomas, 30% of which are associated with specific genetic alterations, including translocations. Several studies have reported associations between cancer risk and DNA repair gene polymorphisms in the nucleotide excision repair (NER) pathway. More epidemiological studies have reported that ERCC2 SNPs . . .

     

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