Basal Cell Carcinoma
Associated Genetic Biomarkers
NCI Definition: The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. 
Basal cell carcinomas most frequently harbor alterations in PTCH1, TP53, PTPRD, KMT2D, and ROS1 .
TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, PTCH1 Mutation, and PTPRD Mutation are the most common alterations in basal cell carcinoma .
Of the biomarker-directed therapies for basal cell carcinoma, 0 are FDA-approved in at least one setting and 0 have NCCN guidelines in at least one setting .
There are 23 clinical trials for basal cell carcinoma, of which 18 are open and 5 are completed or closed. Of the trials that contain basal cell carcinoma as an inclusion criterion, 9 are phase 1 (8 open), 2 are phase 1/phase 2 (2 open), 11 are phase 2 (7 open), and 1 is phase 4 (1 open).
PTCH1 is the most frequent gene inclusion criterion for basal cell carcinoma clinical trials .
Placebo, nivolumab, and ipilimumab are the most common interventions in basal cell carcinoma clinical trials.
Significant Genes in Basal Cell Carcinoma
POLE is altered in 13.73% of basal cell carcinoma patients .
POLE is an inclusion eligibility criterion in 1 clinical trial for basal cell carcinoma, of which 1 is open and 0 are closed. Of the trial that contains POLE status and basal cell carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
PTCH1 is altered in 81.03% of basal cell carcinoma patients .
PTCH1 is an inclusion eligibility criterion in 3 clinical trials for basal cell carcinoma, of which 2 are open and 1 is closed. Of the trials that contain PTCH1 status and basal cell carcinoma as inclusion criteria, 1 is phase 1 (1 open) and 2 are phase 2 (1 open) .
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.