Basal Cell Carcinoma (BCC)
Overview
Basal cell carcinoma (BCC) is the most common type of non-melanoma skin cancer, arising from basal keratinocytes of the epidermis. In the OncoTree hierarchy it is a child of SKIN under the Skin Cancer, Non-Melanoma main type. BCC is strongly associated with cumulative ultraviolet radiation (UVR) exposure, reflected by a high burden of UVR-signature mutations (SBS7a/SBS7b). NanoSeq-based studies estimate a mean somatic mutation burden of ~65 substitutions/Mb in BCC, which has been used to model the cumulative NB-UVB phototherapy exposure at which surveillance for skin cancer should begin.
Cohorts in the corpus
- bcc_unige_2016: BCC whole-genome sequencing data deposited in the European Genome-Phenome Archive (EGAD0000101525); referenced in phototherapy mutation-burden modelling PMID:26950094
Recurrent alterations
- UVR-associated mutational signatures SBS7a and SBS7b dominate the BCC somatic mutation landscape; mean mutation burden ~65 substitutions/Mb (Bonilla et al. 2016), used as the BCC endpoint in NB-UVB surveillance modelling PMID:26950094
- In 4 recurrent/metastatic BCC profiled by MSK-IMPACT (Morris et al.): 3 of 4 had UV mutational signature; TERT promoter mutations in 75%; all 3 hedgehog-pathway-inhibitor-responsive BCCs carried PTCH1 mutations; one hypermutated BCC (122 mutations) directed to immunotherapy on mutation-load rationale PMID:27442865.
Subtypes
- No subtypes called out in the current corpus.
Therapeutic landscape
- No drug or treatment data reported in the current corpus.
Sources
- PMID:26950094 — Fowler et al., NanoSeq quantification of NB-UVB-induced somatic mutation burden in normal skin; BCC mean burden used in surveillance modelling
This page was processed by crosslinker on 2026-05-14. - PMID:27442865 — Morris et al. 2017 (JAMA Oncol). TERT promoter mutations in 75% of 4 advanced BCC; PTCH1 mutations in all hedgehog-inhibitor-responsive cases.
This page was processed by entity-page-writer on 2026-05-15.