MCID: BSL007
MIFTS: 67

Basal Cell Carcinoma

Categories: Cancer diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Basal Cell Carcinoma

MalaCards integrated aliases for Basal Cell Carcinoma:

Name: Basal Cell Carcinoma 11 75 28 5 14 16 71
Basal Cell Neoplasm 11 16 71
Basal Cell Cancer 11 53 71
Basal Cell Carcinoma of Skin 11 33
Malignant Basal Cell Tumor 11 71
Experimental Organism Basal Cell Carcinoma 71
Basal Cell Epithelioma of Unspecified Site 33
Nodulo-Ulcerative Basal Cell Carcinoma 71
Bcc - [basal Cell Carcinoma] of Skin 33
Rodent Ulcer of Unspecified Site 33
Basal Cell Epithelioma of Skin 33
Malignant Basal Cell Neoplasm 11
Epithelioma Basal Cell 11
Neoplasms, Basal Cell 43
Basal Cell Carcinomas 14
Carcinoma Basal Cell 53
Basal-Cell Carcinoma 75
Rodent Ulcer of Skin 33
Basal Cell Tumor 11
Rodent Ulcer 11
Basalioma 33

Classifications:



External Ids:

Disease Ontology 11 DOID:2513
MeSH 43 D018295
UMLS 71 C0007117 C0206710 C0751676 more

Summaries for Basal Cell Carcinoma

Disease Ontology: 11 A skin carcinoma affecting basal cells.

MalaCards based summary: Basal Cell Carcinoma, also known as basal cell neoplasm, is related to basal cell carcinoma 1 and basal cell nevus syndrome. An important gene associated with Basal Cell Carcinoma is SMO (Smoothened, Frizzled Class Receptor), and among its related pathways/superpathways are Signal Transduction and G-Beta Gamma Signaling. The drugs Fluorouracil and Imiquimod have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and endothelial, and related phenotypes are neoplasm and normal

Wikipedia: 75 Basal-cell carcinoma (BCC), also known as basal-cell cancer, is the most common type of skin cancer. It... more...

Related Diseases for Basal Cell Carcinoma

Diseases in the Small Cell Carcinoma family:

Basal Cell Carcinoma 1 Basal Cell Carcinoma 2
Basal Cell Carcinoma 3 Basal Cell Carcinoma 4
Basal Cell Carcinoma 5 Basal Cell Carcinoma 6
Basal Cell Carcinoma 7 Basal Cell Carcinoma
Large Cell Carcinoma Basal Cell Carcinoma, Multiple

Diseases related to Basal Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 878)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 1 34.2 SMO PTCH2 PTCH1 BCC1
2 basal cell nevus syndrome 34.1 TP53 SUFU SMO SHH PTEN PTCH2
3 basal cell carcinoma, infundibulocystic 33.5 SUFU PTCH1
4 micronodular basal cell carcinoma 33.5 TP53 SHH PTCH1 GLI2
5 vulva basal cell carcinoma 33.2 SHH PTCH1
6 fibroepithelial basal cell carcinoma 33.1 PTCH2 PTCH1 GLI1
7 skin carcinoma 33.0 TP53 SUFU SHH PTEN PTCH2 PTCH1
8 clear cell basal cell carcinoma 33.0 TP53 PTCH1
9 bap1 tumor predisposition syndrome 32.9 TP53 SUFU PTEN PTCH1 PALB2
10 penis carcinoma in situ 32.8 TP53 SUFU PTCH1 GLI1
11 skin benign neoplasm 32.2 TP53 PTCH1 GLI2 GLI1 CYLD
12 medulloblastoma 32.2 TP53 SUFU SMO SHH PTEN PTCH2
13 focal dermal hypoplasia 32.1 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
14 skin disease 31.9 TP53 SHH PTEN PTCH1 MC1R GLI1
15 basosquamous carcinoma 31.8 TP53 PTCH2 PTCH1 GLI1
16 ameloblastoma 31.7 TP53 SMO PTCH1 GLI1
17 meningioma, familial 31.6 TP53 SUFU SMO SHH PTEN PTCH2
18 skin melanoma 31.5 TP53 PTEN MC1R
19 inherited cancer-predisposing syndrome 31.5 TP53 SUFU PTEN PTCH1 PALB2
20 rhabdomyosarcoma 31.4 TP53 SUFU SHH PTEN PTCH2 PTCH1
21 melanoma in congenital melanocytic nevus 31.3 TP53 PTEN MC1R
22 melanoma, cutaneous malignant 1 31.0 TP53 PTEN PALB2 MC1R CDKN2B-AS1
23 glioma susceptibility 1 31.0 TP53 CDKN2B-AS1 CASC15
24 childhood medulloblastoma 31.0 TP53 SUFU SHH PTCH1 GLI2 GLI1
25 neurofibromatosis, type i 31.0 TP53 PTEN CDKN2B-AS1
26 brain cancer 30.9 TP53 SHH PTEN PTCH1 GLI1
27 polydactyly 30.9 SUFU SHH PTCH1 GLI2 GLI1
28 cowden syndrome 30.8 TP53 PTEN PTCH1 PALB2
29 teratoma 30.8 TP53 SHH PTEN
30 desmoplastic nodular medulloblastoma 30.8 TP53 SUFU SHH PTCH2 PTCH1 GLI2
31 embryonal rhabdomyosarcoma 30.8 TP53 PTCH1 GLI1
32 fanconi anemia, complementation group a 30.8 TP53 PTEN PTCH1 PALB2 MC1R
33 glioma 30.7 TP53 PTEN GLI1 CDKN2B-AS1
34 nodular malignant melanoma 30.7 TP53 PTEN MC1R
35 lung oat cell carcinoma 30.6 TP53 PTEN
36 mismatch repair cancer syndrome 30.6 TP53 PTEN PALB2
37 diffuse gastric cancer 30.5 TP53 PTEN PALB2
38 anus basaloid carcinoma 30.5 PTCH1 CYLD
39 nodular basal cell carcinoma 11.9
40 superficial basal cell carcinoma 11.7
41 pigmented basal cell carcinoma 11.7
42 metatypical basal cell carcinoma 11.7
43 follicular basal cell carcinoma 11.7
44 cystic basal cell carcinoma 11.7
45 adenoid basal cell carcinoma 11.7
46 anal margin basal cell carcinoma 11.6
47 penis basal cell carcinoma 11.6
48 morpheaform basal cell carcinoma 11.6
49 basal cell carcinoma, multiple 11.6
50 basal cell carcinoma 7 11.6

Graphical network of the top 20 diseases related to Basal Cell Carcinoma:



Diseases related to Basal Cell Carcinoma

Symptoms & Phenotypes for Basal Cell Carcinoma

MGI Mouse Phenotypes related to Basal Cell Carcinoma:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 10.18 CYLD GLI1 MC1R PALB2 PTCH1 PTCH2
2 normal MP:0002873 10.16 CYLD GLI1 GLI2 PTCH1 PTCH2 PTEN
3 limbs/digits/tail MP:0005371 10.14 CYLD GLI1 GLI2 MC1R PALB2 PTCH1
4 no phenotypic analysis MP:0003012 9.98 GLI1 GLI2 MC1R PTCH1 SHH SUFU
5 embryo MP:0005380 9.97 GLI1 GLI2 PALB2 PTCH1 PTEN SHH
6 digestive/alimentary MP:0005381 9.96 CYLD GLI1 GLI2 PTCH1 PTCH2 PTEN
7 pigmentation MP:0001186 9.89 MC1R PTCH1 PTEN SUFU TP53
8 hearing/vestibular/ear MP:0005377 9.85 GLI2 MC1R PTCH1 SHH SMO TP53
9 craniofacial MP:0005382 9.76 GLI1 GLI2 MC1R PTCH1 SHH SMO
10 respiratory system MP:0005388 9.61 CYLD GLI1 GLI2 PTCH1 PTEN SHH
11 integument MP:0010771 9.36 CYLD GLI2 MC1R PALB2 PTCH1 PTCH2

Drugs & Therapeutics for Basal Cell Carcinoma

Drugs for Basal Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 194)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 4 51-21-8 3385
2
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
3
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
4 Antiviral Agents Phase 4
5 Immunologic Factors Phase 4
6 Immunosuppressive Agents Phase 4
7 polysaccharide-K Phase 4
8 Adjuvants, Immunologic Phase 4
9 Interferon-alpha Phase 4
10
Triamcinolone hexacetonide Phase 4
11
Triamcinolone diacetate Phase 4
12
Triamcinolone Acetonide Phase 4 6436
13 Tin Fluorides Phase 4
14
Calcipotriol Approved Phase 2, Phase 3 112965-21-6 5288783
15
Verteporfin Approved, Investigational Phase 3 129497-78-5 5362420
16
Isotretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4, 4759-48-2 5538 444795 5282379
17 Dermatologic Agents Phase 3
18 Keratolytic Agents Phase 3
19 Veratrum Alkaloids Phase 3
20 Antihypertensive Agents Phase 3
21 Tea Phase 2, Phase 3
22 Calcium, Dietary Phase 3
23
Calcium Nutraceutical Phase 3 7440-70-2 271
24
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
25
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
26
Cetuximab Approved Phase 1, Phase 2 205923-56-4
27
Erlotinib Approved, Investigational Phase 1, Phase 2 183319-69-9, 183321-74-6 176870
28
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
29
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
30
Arsenic trioxide Approved, Investigational Phase 1, Phase 2 1327-53-3 518740
31
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
32
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
33
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 11947679 6857599
34
Benzoic acid Approved, Investigational Phase 2 65-85-0 243
35
Diclofenac Approved, Vet_approved Phase 2 15307-86-5, 15307-79-6 3033
36
Cisplatin Approved Phase 1, Phase 2 15663-27-1 2767 5702198 441203
37
Nivolumab Approved Phase 2 946414-94-4
38
Ipilimumab Approved Phase 2 477202-00-9
39
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
40
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
41
Ethanol Approved Phase 2 64-17-5 702
42
Hydrogen peroxide Approved, Vet_approved Phase 2 7722-84-1 784
43
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
44
Aminolevulinic acid Approved Phase 1, Phase 2 106-60-5 137
45
Carboplatin Approved Phase 2 41575-94-4 10339178 38904
46
Etoposide Approved Phase 2 33419-42-0 36462
47
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
48
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
49
Picropodophyllin Approved, Investigational Phase 2 518-28-5, 477-47-4 10607 72435
50
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006

Interventional clinical trials:

(show top 50) (show all 293)
# Name Status NCT ID Phase Drugs
1 Treatment of Superficial Basal Cell Carcinoma by Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Topical Photodynamic Therapy With Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
2 Imiquimod 5% Cream for the Treatment of Periocular Basal Cell Carcinoma Unknown status NCT00803907 Phase 4 Imiquimod 5% cream
3 Study of the Relationship Between the Pharmacokinetics of Vismodegib and Safety Data: a Pilot Study to Therapeutic Optimization in Patients With Basal Cell Carcinoma - OPTIVISMO-1 Completed NCT03610022 Phase 4 Treatment with vismodegib
4 Intron-A/Aldara Combination Therapy for BCC Excluding the Face and Scalp Completed NCT00581425 Phase 4
5 Topical Imiquimod 5% Cream in the Treatment of Nodular Basal Cell Carcinoma After Initial Treatment With Curettage Completed NCT00314756 Phase 4 imiquimod
6 VISmodegib for ORbital and Periocular Basal Cell Carcinoma (VISORB) Completed NCT02436408 Phase 4 Vismodegib
7 A Randomized Open Label Study to Evaluate the Safety and Efficacy if Imiquimod 5% Cream Applied 3 Times Per Week for 8 or 12 Weeks in the Treatment of Low Risk Nodular Basal Cell Carcinoma Completed NCT00204555 Phase 4 Imiquimod
8 CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial Completed NCT00847912 Phase 4 5-fluorouracil;Placebo, vehicle control
9 A Randomized Clinical Trial in the Surgical Treatment of Basal Cell Carcinoma of the Eyelid: Surgical Excision With Frozen Section vs. Permanent Section Control Unknown status NCT00663650 Phase 3
10 A Multicenter, Phase III, Double Blind Study of Photodynamic Therapy (PDT) With Metvix 160 mg/g Cream in Comparison to PDT With Placebo Cream in Patients With Primary Nodular Basal Cell Carcinoma Completed NCT00472108 Phase 3
11 A Multicentre, Phase III, Double Blind Study of Photodynamic Therapy (PDT) With Metvix® 160 mg/g Cream in Comparison to PDT With Placebo Cream in Patients With Primary Nodular Basal Cell Carcinoma. Completed NCT00472043 Phase 3
12 An Open Multicenter, Phase III Study of Photodynamic Therapy With Metvix Cream 160 mg/g in Patients With "High Risk" Basal Cell Carcinoma Completed NCT00473343 Phase 3
13 A Randomized, Observer Blind, Multinational Phase III Study to Evaluate the Safety and Efficacy of BF-200 ALA (Ameluz®) in Comparison to Metvix® in the Treatment of Non-aggressive Basal Cell Carcinoma (BCC) With Photodynamic Therapy (PDT) Completed NCT02144077 Phase 3 BF-200 ALA;methyl-aminolevulinate
14 A Multicentre, Randomised Study of Photodynamic Therapy(PDT) With Metvix® 160 mg/g Cream in Immuno-compromised Patients With Non-melanoma Skin Cancer Completed NCT00472459 Phase 3
15 A Multicenter, Phase III, Randomised Study of Photodynamic Therapy With Metvix Cream 160 mg/g in Comparison With Cryotherapy in Patients With Primary Superficial Basal Cell Carcinoma Completed NCT00469417 Phase 3
16 An Open-label Study to Evaluate the Safety and Long-Term Clinical Efficacy of Imiquimod 5% Cream Applied Once Daily 7 Days Per Week for 6 Weeks in the Treatment of Superficial Basal Cell Carcinoma Completed NCT00189306 Phase 3 Imiquimod 5% cream
17 An Open-Label Study to Evaluate the Safety and Long-Term Clinical Efficacy of Imiquimod 5% Cream Applied Once Daily 5 Days Per Week for 6 Weeks in the Treatment of Superficial Basal Cell Carcinoma Completed NCT00189241 Phase 3 imiquimod
18 Open-label Study to Evaluate the Use of Imiquimod 5% Cream for Reducing Postsurgical Recurrence or Persistence of Basal Cell Carcinoma Following Excision by Curettage Completed NCT00129519 Phase 3 Imiquimod 5% cream
19 Conventional Versus Fractional CO2 Laser Assisted Photodynamic Therapy for Basal Call Carcinomas and Actinic Keratoses Completed NCT01260987 Phase 2, Phase 3 Conventional photodynamic therapy;Fractional CO2 laser assisted PDT
20 Open Label, Randomized Comparison of Two Schemes of Cryosurgery and Imiquimod Combination Treatment for Basal Cell Carcinoma of the Skin Completed NCT01212549 Phase 3
21 Topical Sinecatechins Ointment in Treatment of Primary Superficial Basal Cell Carcinoma: a Double Blind, Randomized, Placebo-controlled Trial. Completed NCT02029352 Phase 2, Phase 3 Sinecatechins 10%;Placebo
22 A Randomized Controlled Trial of Excisional Surgery Versus Imiquimod 5% Cream for Nodular and Superficial Basal Cell Carcinoma Completed NCT00066872 Phase 3 imiquimod
23 Open Study to Evaluate the Efficacy and Tolerance of Imiquimod 5% Cream for the Treatment of a Large and/or Multiple Superficial Basal Cell Carcinoma. Completed NCT00189280 Phase 3 Imiquimod
24 A Multicenter, Randomized, Double-blind, Vehicle-controlled, Phase 3 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome Completed NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
25 CSP #402 - VA Topical Tretinoin Chemoprevention Trial Completed NCT00007631 Phase 3 Tretinoin 0.1% cream or placebo
26 Calcium Electroporation for Basal Cell Carcinomas - Proof of Concept Study Recruiting NCT05046262 Phase 3 Calcium chloride
27 A Randomized, Double Blind, Vehicle-controlled Multicenter Phase III Study to Evaluate the Safety and Efficacy of BF-200 ALA (Ameluz®) and BF-RhodoLED® in the Treatment of Superficial Basal Cell Carcinoma (sBCC) With Photodynamic Therapy (PDT). Recruiting NCT03573401 Phase 3
28 Combination of 5-Fluorouracil and Calcipotriene in the Treatment of Superficial Basal Cell Carcinomas and Squamous Cell Carcinomas in Situ Recruiting NCT05381597 Phase 2, Phase 3 Combination cream of 5-fluorouracil and calcipotriene;5-fluorouracil cream
29 Surgical Excision Versus Combined Treatment With Curettage and Imiquimod for Nodular Basal Cell Carcinoma: an Open, Non-inferiority, Randomized Controlled Trial Active, not recruiting NCT02242929 Phase 3 Imiquimod 5% cream with prior curettage
30 CSP #2019 - Basal Cell Carcinoma Chemoprevention Trial (B3C) Not yet recruiting NCT05212246 Phase 3 5% Imiquimod cream;Placebo Vehicle Control Cream
31 A Randomized, Placebo-Controlled, Masked, Multicenter Phase III Study Of Photodynamic Therapy With Verteporfin For Injection (VFI) For The Treatment Of Multiple Basal Cell Carcinoma Terminated NCT00049959 Phase 3 verteporfin PDT
32 A Randomized, Double-blind, Vehicle-controlled, Multicenter Trial of Topically Administered LDE225 Cream (0.75% Bid) to Evaluate Clearance of Basal Cell Carcinoma in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
33 Investigation of the Effectiveness of Non-Coherent Blue Light in Intralesional Photodynamic of Basal Cell Carcinoma Unknown status NCT00747903 Phase 2 aminolevulinic acid hydrochloride
34 Open, Prospective, Single-center Study Evaluating the Efficacy and Safety of 0.05% Ingenol Mebutate (Picato® 500) in the Treatment of Basal Cell Carcinoma Unknown status NCT03546166 Phase 2 Picato 0.05% Topical Gel
35 Treatment of Basal Cell Carcinomas With Methyl Aminolevulinate and Daylight Unknown status NCT01349361 Phase 2
36 A Randomized, Double-Blind Pilot Study of N-Acetylcysteine Mucoadherent Rinse Versus Placebo for Thickened Secretions and Mucositis Secondary to Chemoradiotherapy in the Management of Head and Neck Malignancies Completed NCT02123511 Phase 2 acetylcysteine
37 A Randomized Phase II Trial of Bevacizumab to Control Brain Radiation Damage Completed NCT00492089 Phase 2 bevacizumab;placebo
38 A Phase I, and Biologic Correlative Study of Erlotinib, in Combination With Cetuximab and Bevacizumab in Patients With Metastatic Renal Cell Carcinoma Completed NCT00101348 Phase 1, Phase 2 erlotinib hydrochloride
39 A Phase II, Double-blind, Randomized, Proof-of-Concept, Dose-ranging Trial Evaluating the Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Completed NCT01350115 Phase 2 LDE225;Placebo
40 A Pivotal Phase II, Multicenter, Single-arm, Two-cohort Trial Evaluating the Efficacy and Safety of GDC-0449 in Patients With Advanced Basal Cell Carcinoma Completed NCT00833417 Phase 2 Vismodegib 150 mg
41 A Phase 1b Open Label Study of Pembrolizumab for Unresectable or Metastatic Basal Cell Carcinoma Completed NCT02690948 Phase 1, Phase 2 Vismodegib
42 An Open-label, Multi-center, Dose-escalation, Cohort Study to Determine the Maximum Tolerated Dose and Safety of PEP005 Topical Gel Given as Either a Single Application (on Day 1) or as Two Applications (on Day 1 and Day 8) to a Superficial Basal Cell Carcinoma (sBCC) on the Trunk. Completed NCT00432185 Phase 2 PEP005
43 Phase IIa Trial With PD-L1 IO103 Vaccination With Montanide in Patients With Basal Cell Carcinoma Completed NCT03714529 Phase 2
44 Phase II Study Evaluating the Interest of Vismodegib as Neo-adjuvant Treatment of Basal Cell Carcinoma (BCC) Completed NCT02667574 Phase 2 ERIVEDGE
45 A Phase II, Single-armed, Multicenter Trial of Neoadjuvant Vismodegib in Patients With Large and/or Recurrent Resectable Basal Cell Carcinoma Completed NCT03035188 Phase 2 Vismodegib
46 A Phase II Study of Radiation Therapy and Vismodegib, for the Treatment of Locally Advanced Basal Cell Carcinoma of the Head and Neck Completed NCT01835626 Phase 2 Vismodegib
47 A Phase 1/2a Study of the Efficacy and Safety of ASN-002 Alone or in Combination With 5-FU in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Completed NCT02550678 Phase 1, Phase 2 5-FU
48 ML28485:Phase 2B Single-site,Open-label,Nonrandomized Study Evaluating Efficacy of Oral Vismodegib in Various Histologic Subtypes (Infiltrative/Morpheaform,Nodular and Superficial)of High Risk and/or Locally Advanced Basal Cell Carcinoma Completed NCT01700049 Phase 2 vismodegib (150 mg PO daily)
49 An Open-label, Multicenter Extension Study of GDC-0449 (Hedgehog Pathway Inhibitor) in Patients Treated With GDC-0449 in a Previous Genentech-sponsored Phase I or Phase II Cancer Study Completed NCT00959647 Phase 2 Vismodegib;FOLFOX;FOLFIRI;Bevacizumab
50 Phase IIb Open-label Trial of SUBA™-Itraconazole in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Completed NCT02354261 Phase 2 SUBA-Itraconazole

Search NIH Clinical Center for Basal Cell Carcinoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Fluorouracil

Cochrane evidence based reviews: neoplasms, basal cell

Genetic Tests for Basal Cell Carcinoma

Genetic tests related to Basal Cell Carcinoma:

# Genetic test Affiliating Genes
1 Basal Cell Carcinoma 28

Anatomical Context for Basal Cell Carcinoma

Organs/tissues related to Basal Cell Carcinoma:

MalaCards : Skin, Breast, Endothelial, Kidney, Lung, Lymph Node, Brain

Publications for Basal Cell Carcinoma

Articles related to Basal Cell Carcinoma:

(show top 50) (show all 15914)
# Title Authors PMID Year
1
Smoothened variants explain the majority of drug resistance in basal cell carcinoma. 62 5
25759020 2015
2
Vismodegib. 62 5
22679179 2012
3
Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 5
19726788 2009
4
Xeroderma pigmentosum skin: an immune privilege site for tumor development. 53 62
19719835 2010
5
Diagnosing xeroderma pigmentosum group C by immunohistochemistry. 53 62
19915453 2010
6
The glutathione-S-transferase P1 polymorphisms correlates with changes in expression of TP53 tumor suppressor in cutaneous basal cell carcinoma. 53 62
19800766 2009
7
[Markers expression of cell proliferation and apoptosis in basal cell carcinoma]. 53 62
20191172 2009
8
GLI1 genotypes do not predict basal cell carcinoma risk: a case control study. 53 62
19948058 2009
9
Cloning of the human GLI2 Promoter: transcriptional activation by transforming growth factor-beta via SMAD3/beta-catenin cooperation. 53 62
19797115 2009
10
Modification of alternative splicing of Mcl-1 pre-mRNA using antisense morpholino oligonucleotides induces apoptosis in basal cell carcinoma cells. 53 62
19369967 2009
11
Expressions of p53, cyclinD1 and histopathological features in basal cell carcinomas. 53 62
19187116 2009
12
The immunoprofile of odontogenic keratocyst (keratocystic odontogenic tumor) that includes expression of PTCH, SMO, GLI-1 and bcl-2 is similar to ameloblastoma but different from odontogenic cysts. 53 62
19473442 2009
13
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma. 53 62
19642973 2009
14
Role of matriptase and proteinase-activated receptor-2 in nonmelanoma skin cancer. 53 62
19242518 2009
15
Deregulation of the tumour suppressor genes p14(ARF), p15(INK4b), p16(INK4a) and p53 in basal cell carcinoma. 53 62
19298278 2009
16
Correlation and expression of COX-2 and P53 protein in basal cell carcinoma of eyelid. 53 62
19513627 2009
17
Mutations in exon 3 of the CTNNB1 gene (beta-catenin gene) in cutaneous adnexal tumors. 53 62
19384065 2009
18
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. 53 62
19233320 2009
19
Lack of evidence for activation of the hedgehog pathway in psoriasis. 53 62
18754037 2009
20
Proteinase-activated receptor-2 expression in basal and squamous cell carcinomas compared with normal skin. 53 62
19032384 2009
21
Elevated frequency of p53 genetic mutations and AgNOR values in squamous cell carcinoma. 53 62
18715257 2009
22
Immunohistochemical detection of p53 protein in basal cell skin cancer after microwave-assisted antigen retrieval. 53 62
19096907 2009
23
A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report. 53 62
19203369 2009
24
The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. 53 62
18637131 2009
25
The expression of p63 and p53 in keratoacanthoma and intraepidermal and invasive neoplasms of the skin. 53 62
19577853 2009
26
Immunohistochemical galectin-3 expression in non-melanoma skin cancers. 53 62
18951731 2009
27
Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk. 53 62
19064570 2008
28
Characteristic overexpression of the forkhead box transcription factor Foxf1 in Patched-associated tumors. 53 62
19020777 2008
29
An overview of Bcl-2 expression in histopathological variants of basal cell carcinoma, squamous cell carcinoma, actinic keratosis and seborrheic keratosis. 53 62
19138009 2008
30
PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients. 53 62
18854826 2008
31
Expression of the hair stem cell-specific marker nestin in epidermal and follicular tumors. 53 62
18693153 2008
32
Patched-one or smoothened gene mutations are infrequent in chondrosarcoma. 53 62
18543049 2008
33
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. 53 62
18539553 2008
34
Ultraviolet responses of Gorlin syndrome primary skin cells. 53 62
18510667 2008
35
A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma? 53 62
18436435 2008
36
Elastic fiber staining and cytokeratin 15 expression pattern in trichoepithelioma and basal cell carcinoma. 53 62
18789069 2008
37
Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome. 53 62
18476955 2008
38
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 53 62
18502968 2008
39
Gli2 upregulates cFlip and renders basal cell carcinoma cells resistant to death ligand-mediated apoptosis. 53 62
18264131 2008
40
Comparative analysis of immunohistochemical markers with invasiveness and histologic differentiation in squamous cell carcinoma and basal cell carcinoma of the skin. 53 62
18404670 2008
41
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 53 62
18285427 2008
42
MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. 53 62
18067130 2008
43
Nonmonoclonal PTCH gene mutations in psoralen plus UVA-associated basal cell carcinomas. 53 62
18059486 2008
44
Does the panel of cytokeratin 20 and androgen receptor antibodies differentiate desmoplastic trichoepithelioma from morpheaform/infiltrative basal cell carcinoma? 53 62
18190441 2008
45
Microcystic adnexal carcinoma: an immunohistochemical reappraisal. 53 62
18065959 2008
46
The vitamin D receptor is a Wnt effector that controls hair follicle differentiation and specifies tumor type in adult epidermis. 53 62
18213391 2008
47
A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. 53 62
18272036 2008
48
Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome. 53 62
19002359 2008
49
Immunolabeling pattern of cytokeratin 19 expression may distinguish sebaceous tumors from basal cell carcinomas. 53 62
18095993 2008
50
Differential expression of stromal MMP-1, MMP-9 and TIMP-1 in basal cell carcinomas of immunosuppressed patients and controls. 53 62
18034264 2008

Variations for Basal Cell Carcinoma

ClinVar genetic disease variations for Basal Cell Carcinoma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMO NM_005631.5(SMO):c.1417G>C (p.Asp473His) SNV Pathogenic
375938 rs17710891 GRCh37: 7:128849189-128849189
GRCh38: 7:129209348-129209348
2 PALB2 NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) SNV Pathogenic
187412 rs786203714 GRCh37: 16:23646416-23646416
GRCh38: 16:23635095-23635095
3 PTCH1 NM_000264.5(PTCH1):c.3836_3837del (p.Pro1279fs) DEL Uncertain Significance
560381 rs1564006281 GRCh37: 9:98209701-98209702
GRCh38: 9:95447419-95447420

Cosmic variations for Basal Cell Carcinoma:

8 (show top 50) (show all 3424)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM84510986 ZNF276 skin,NS,carcinoma,basal cell carcinoma c.*940C>T p.? 16:89739186-89739186 22
2 COSM149268805 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 22
3 COSM87274302 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 22
4 COSM87270496 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 22
5 COSM149259613 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 22
6 COSM149268792 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 22
7 COSM87274307 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 22
8 COSM149268800 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 22
9 COSM87273325 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 22
10 COSM149304906 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 22
11 COSM87296537 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 22
12 COSM102023150 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7526C>T p.? 16:72958491-72958491 22
13 COSM102019420 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.8105C>T p.S2702F 16:72787429-72787429 22
14 COSM149331772 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 22
15 COSM102023155 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7920G>A p.? 16:72958885-72958885 22
16 COSM102023144 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.3083G>A p.G1028E 16:72796857-72796857 22
17 COSM102047764 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.8308G>A p.D2770N 16:72787226-72787226 22
18 COSM87286441 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 22
19 COSM102036925 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7190C>T p.? 16:72958155-72958155 22
20 COSM149266372 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 22
21 COSM102022243 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7097C>T p.? 16:72958062-72958062 22
22 COSM87274293 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 22
23 COSM104882801 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 22
24 COSM104236272 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 22
25 COSM101976974 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 22
26 COSM87040659 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 22
27 COSM101179498 TSC2 skin,NS,carcinoma,basal cell carcinoma c.1913C>T p.S638F 16:2071897-2071897 22
28 COSM150324396 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 22
29 COSM101191558 TSC2 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.P241L 16:2058767-2058767 22
30 COSM147706701 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 22
31 COSM150353664 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 22
32 COSM151748023 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 22
33 COSM150576157 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 22
34 COSM149802478 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 22
35 COSM148980439 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 22
36 COSM90415129 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 22
37 COSM149800636 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 22
38 COSM148991757 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 22
39 COSM151513825 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 22
40 COSM151371066 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 22
41 COSM148982237 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 22
42 COSM136628294 TSC2 skin,NS,carcinoma,basal cell carcinoma c.902C>T p.P301L 16:2058767-2058767 22
43 COSM151753165 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 22
44 COSM110103971 TSC2 skin,NS,carcinoma,basal cell carcinoma c.568T>A p.C190S 16:2056674-2056674 22
45 COSM150583851 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 22
46 COSM102616914 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 22
47 COSM136618116 TSC2 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 16:2056674-2056674 22
48 COSM110102044 TSC2 skin,NS,carcinoma,basal cell carcinoma c.1949C>T p.S650F 16:2071897-2071897 22
49 COSM150574866 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 22
50 COSM102629996 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 22

Copy number variations for Basal Cell Carcinoma from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 256908 9 98205264 98279247 Mutation PTCH1 Basal cell carcinoma

Expression for Basal Cell Carcinoma

Search GEO for disease gene expression data for Basal Cell Carcinoma.

Pathways for Basal Cell Carcinoma

Pathways related to Basal Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1 13.65 CYLD GLI1 GLI2 MC1R PTCH1 PTCH2
2
Show member pathways
12.51 SMO PTCH2 PTCH1 GLI2 GLI1
3
Show member pathways
12.33 GLI1 GLI2 PTCH1 SHH SMO SUFU
4
Show member pathways
12.27 SMO SHH PTCH2 PTCH1
5 12.06 CYLD GLI1 GLI2 PTCH1 PTCH2 SHH
6 11.79 SUFU SMO GLI2
8 11.41 SMO SHH GLI2 GLI1
9 11.36 SMO SHH PTCH1 GLI2 GLI1
10
Show member pathways
11.28 SMO SHH PTCH2 PTCH1 GLI2
11
Show member pathways
11.24 SMO PTCH1 GLI2 GLI1
12 11.16 SHH GLI2 GLI1
13 11.01 SUFU SMO SHH PTCH1 GLI2 GLI1
14 10.95 SMO SHH PTCH1 GLI2 GLI1
15 10.79 SUFU SMO SHH PTCH2 PTCH1 GLI2
16 10.69 SHH PTCH1 GLI1
17 10.45 SHH PTCH1

GO Terms for Basal Cell Carcinoma

Cellular components related to Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.8 SUFU SMO PTCH1 GLI2 GLI1
2 ciliary base GO:0097546 9.63 SUFU GLI2 GLI1
3 GLI-SUFU complex GO:1990788 9.35 SUFU GLI2 GLI1
4 ciliary tip GO:0097542 9.32 SUFU SMO GLI2 GLI1 CYLD

Biological processes related to Basal Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.41 GLI2 PALB2 PTEN SHH SMO TP53
2 in utero embryonic development GO:0001701 10.23 TP53 SMO PTCH1 PALB2 GLI2
3 central nervous system development GO:0007417 10.22 TP53 SMO SHH PTEN
4 odontogenesis of dentin-containing tooth GO:0042475 10.16 SMO SHH GLI2
5 neuroblast proliferation GO:0007405 10.13 TP53 SMO SHH
6 hair follicle morphogenesis GO:0031069 10.11 SMO SHH GLI2
7 skin development GO:0043588 10.06 SUFU SHH PTCH2
8 positive regulation of smoothened signaling pathway GO:0045880 10.05 SMO SHH GLI1
9 stem cell proliferation GO:0072089 10.05 GLI2 PTCH1 SHH TP53
10 somite development GO:0061053 10.03 SMO SHH PTCH1
11 negative regulation of smoothened signaling pathway GO:0045879 10.02 SUFU PTCH2 PTCH1 GLI2
12 smooth muscle tissue development GO:0048745 10.01 SMO SHH PTCH1
13 cell population proliferation GO:0008283 10 TP53 SMO SHH PTEN GLI2
14 prostate gland development GO:0030850 10 SHH PTCH1 GLI1
15 positive regulation of epidermal cell differentiation GO:0045606 9.98 PTCH2 PTCH1
16 spinal cord motor neuron differentiation GO:0021522 9.97 SHH PTCH1 GLI2
17 pattern specification process GO:0007389 9.97 SMO SHH PTCH1 GLI2
18 hindgut morphogenesis GO:0007442 9.95 GLI2 SHH
19 epithelial cell proliferation GO:0050673 9.95 SMO SHH PTCH1 GLI2
20 epidermal cell fate specification GO:0009957 9.94 PTCH1 PTCH2
21 cerebellar cortex morphogenesis GO:0021696 9.93 GLI1 GLI2 SMO
22 determination of left/right asymmetry in lateral mesoderm GO:0003140 9.92 SHH SMO
23 positive regulation of hh target transcription factor activity GO:0007228 9.92 SHH SMO
24 dorsal/ventral pattern formation GO:0009953 9.92 SMO SHH PTCH1 GLI2 GLI1
25 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.91 GLI2 SUFU
26 developmental growth GO:0048589 9.89 SMO SHH GLI2
27 ventral midline development GO:0007418 9.85 SHH GLI2 GLI1
28 mammary gland duct morphogenesis GO:0060603 9.84 PTCH1 GLI2
29 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.84 SUFU GLI2
30 negative regulation of hh target transcription factor activity GO:1990787 9.83 GLI1 GLI2 SUFU
31 epithelial-mesenchymal cell signaling GO:0060684 9.81 SMO SHH
32 spinal cord dorsal/ventral patterning GO:0021513 9.8 SUFU SHH GLI2
33 dorsal/ventral neural tube patterning GO:0021904 9.8 GLI2 PTCH1 SHH SMO
34 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.76 SUFU GLI2
35 embryonic organ development GO:0048568 9.76 TP53 SMO SHH PTCH1 PALB2
36 notochord regression GO:0060032 9.74 GLI1 GLI2
37 alpha-tubulin acetylation GO:0071929 9.61 SHH SMO
38 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.5 SMO SHH GLI2 GLI1
39 smoothened signaling pathway GO:0007224 9.4 SUFU SMO SHH PTCH2 PTCH1 GLI2

Molecular functions related to Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hedgehog family protein binding GO:0097108 9.56 PTCH2 PTCH1
2 hedgehog receptor activity GO:0008158 9.46 PTCH2 PTCH1
3 smoothened binding GO:0005119 9.26 PTCH2 PTCH1
4 patched binding GO:0005113 9.1 SMO SHH PTCH1

Sources for Basal Cell Carcinoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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