Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression

J Invest Dermatol. 2018 Jun;138(6):1423-1427. doi: 10.1016/j.jid.2017.12.026. Epub 2017 Dec 29.

Authors

Affiliations

¹ Biomedical Research in Melanoma-Animal Models and Cancer Laboratory, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
² Cancer Genomics Group Translational Research Program, Vall d'Hebron Research Institute (VHIO), Barcelona, Spain.
³ Anatomy and Pathology Department, Vall d'Hebron Hospital, Barcelona, Spain.
⁴ Dermatology Department, Vall d'Hebron Hospital, Barcelona, Spain.
⁵ Biomedical Research in Melanoma-Animal Models and Cancer Laboratory, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain. Electronic address: juan.recio@vhir.org.

PMID: 29291383
DOI: 10.1016/j.jid.2017.12.026

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Animals
Biopsy
Carcinoma, Squamous Cell / complications
Carcinoma, Squamous Cell / genetics*
Carcinoma, Squamous Cell / pathology
Collagen Type VII / genetics
DNA Copy Number Variations
Epidermolysis Bullosa Dystrophica / complications
Epidermolysis Bullosa Dystrophica / genetics*
Epidermolysis Bullosa Dystrophica / pathology
Female
Genes, Recessive / genetics
Genetic Profile
Humans
Loss of Heterozygosity
Male
Mice
Proto-Oncogene Proteins c-myc / genetics*
Receptors, Notch / genetics*
Skin Neoplasms / complications
Skin Neoplasms / genetics*
Skin Neoplasms / pathology
Tumor Suppressor Protein p53 / genetics*
Xenograft Model Antitumor Assays

Substances

COL7A1 protein, human
Collagen Type VII
MYC protein, human
Proto-Oncogene Proteins c-myc
Receptors, Notch
TP53 protein, human
Tumor Suppressor Protein p53