Basal Cell Carcinoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BSL007 MIFTS: 67	Basal Cell Carcinoma Categories: Cancer diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Cancer diseases Genetic diseases Rare diseases
Anatomical: Skin diseases Mental diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD11: ³³

Neoplasms

Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues

Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues

Malignant neoplasms of skin

Basal cell carcinoma of skin

Basal cell carcinoma of skin, unspecified

Other specified basal cell carcinoma of skin

External Ids:

Disease Ontology ¹¹ DOID:2513

MeSH ⁴³ D018295

NCIt ⁴⁹ C156767 C3784 C7586

SNOMED-CT ⁶⁸ 127570002 154507009 252995000

EFO ¹⁶ EFO_0004193 EFO_1001763

ICD11 ³³ 1203447657 1203447657/other 1203447657/unspecified

UMLS ⁷¹ C0007117 C0206710 C0751676 more

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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...

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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:

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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

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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

Fluorouracil

Approved

Phase 4

51-21-8

3385

Imiquimod

Approved, Investigational

Phase 4

99011-02-6

57469

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Antiviral Agents

Phase 4

Immunologic Factors

Phase 4

Immunosuppressive Agents

Phase 4

polysaccharide-K

Phase 4

Adjuvants, Immunologic

Phase 4

Interferon-alpha

Phase 4

Triamcinolone hexacetonide

Phase 4

Triamcinolone diacetate

Phase 4

Triamcinolone Acetonide

Phase 4

6436

Tin Fluorides

Phase 4

Calcipotriol

Approved

Phase 2, Phase 3

112965-21-6

5288783

Verteporfin

Approved, Investigational

Phase 3

129497-78-5

5362420

Isotretinoin

Approved, Investigational, Nutraceutical

Phase 3

302-79-4, 4759-48-2

5538 444795 5282379

Dermatologic Agents

Phase 3

Keratolytic Agents

Phase 3

Veratrum Alkaloids

Phase 3

Antihypertensive Agents

Phase 3

Tea

Phase 2, Phase 3

Calcium, Dietary

Phase 3

Calcium

Nutraceutical

Phase 3

7440-70-2

271

Acetylcysteine

Approved, Investigational

Phase 2

616-91-1

581 12035

Bevacizumab

Approved, Investigational

Phase 2

216974-75-3

135329020

Cetuximab

Approved

Phase 1, Phase 2

205923-56-4

Erlotinib

Approved, Investigational

Phase 1, Phase 2

183319-69-9, 183321-74-6

176870

Irinotecan

Approved, Investigational

Phase 2

97682-44-5, 100286-90-6

60838

Itraconazole

Approved, Investigational

Phase 2

84625-61-6

55283

Arsenic trioxide

Approved, Investigational

Phase 1, Phase 2

1327-53-3

518740

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 2

23593-75-1

2812

Oxaliplatin

Approved, Investigational

Phase 2

61825-94-3

43805 11947679 6857599

Benzoic acid

Approved, Investigational

Phase 2

65-85-0

243

Diclofenac

Approved, Vet_approved

Phase 2

15307-86-5, 15307-79-6

3033

Cisplatin

Approved

Phase 1, Phase 2

15663-27-1

2767 5702198 441203

Nivolumab

Approved

Phase 2

946414-94-4

Ipilimumab

Approved

Phase 2

477202-00-9

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

5284616 6436030

Talimogene laherparepvec

Approved, Experimental, Investigational

Phase 2

1187560-31-1

Ethanol

Approved

Phase 2

64-17-5

702

Hydrogen peroxide

Approved, Vet_approved

Phase 2

7722-84-1

784

Hyaluronic acid

Approved, Vet_approved

Phase 2

9004-61-9

53477741

Aminolevulinic acid

Approved

Phase 1, Phase 2

106-60-5

137

Carboplatin

Approved

Phase 2

41575-94-4

10339178 38904

Etoposide

Approved

Phase 2

33419-42-0

36462

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

Vincristine

Approved, Investigational

Phase 2

2068-78-2, 57-22-7

5978

Picropodophyllin

Approved, Investigational

Phase 2

518-28-5, 477-47-4

10607 72435

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

Sources

Genetic Tests for Basal Cell Carcinoma

Genetic tests related to Basal Cell Carcinoma:

#	Genetic test	Affiliating Genes
1	Basal Cell Carcinoma ²⁸

Sources

Anatomical Context for Basal Cell Carcinoma

Organs/tissues related to Basal Cell Carcinoma:

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

Sources

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	Atwood SX...Tang JY	25759020	2015
2	Vismodegib. ⁶² ⁵	Rudin CM	22679179	2012
3	Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. ⁵	Yauch RL...de Sauvage FJ	19726788	2009
4	Xeroderma pigmentosum skin: an immune privilege site for tumor development. ⁵³ ⁶²	Abid K...Hamzaoui K	19719835	2010
5	Diagnosing xeroderma pigmentosum group C by immunohistochemistry. ⁵³ ⁶²	de Feraudy S...Cleaver JE	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	Gorji H...Ghahremani MH	19800766	2009
7	[Markers expression of cell proliferation and apoptosis in basal cell carcinoma]. ⁵³ ⁶²	Correa Mde P...Guerra MC	20191172	2009
8	GLI1 genotypes do not predict basal cell carcinoma risk: a case control study. ⁵³ ⁶²	Watson A...Walterhouse DO	19948058	2009
9	Cloning of the human GLI2 Promoter: transcriptional activation by transforming growth factor-beta via SMAD3/beta-catenin cooperation. ⁵³ ⁶²	Dennler S...Mauviel A	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	Shieh JJ...Hsieh TY	19369967	2009
11	Expressions of p53, cyclinD1 and histopathological features in basal cell carcinomas. ⁵³ ⁶²	Koseoglu RD...Etikan I	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	Vered M...Buchner A	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	Gimelli S...Gimelli G	19642973	2009
14	Role of matriptase and proteinase-activated receptor-2 in nonmelanoma skin cancer. ⁵³ ⁶²	Bocheva G...Steinhoff M	19242518	2009
15	Deregulation of the tumour suppressor genes p14(ARF), p15(INK4b), p16(INK4a) and p53 in basal cell carcinoma. ⁵³ ⁶²	Kanellou P...Spandidos DA	19298278	2009
16	Correlation and expression of COX-2 and P53 protein in basal cell carcinoma of eyelid. ⁵³ ⁶²	Chen Z...Huang Q	19513627	2009
17	Mutations in exon 3 of the CTNNB1 gene (beta-catenin gene) in cutaneous adnexal tumors. ⁵³ ⁶²	Kazakov DV...Michal M	19384065	2009
18	Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. ⁵³ ⁶²	de Ravel TJ...Devriendt K	19233320	2009
19	Lack of evidence for activation of the hedgehog pathway in psoriasis. ⁵³ ⁶²	Gudjonsson JE...Elder JT	18754037	2009
20	Proteinase-activated receptor-2 expression in basal and squamous cell carcinomas compared with normal skin. ⁵³ ⁶²	Dastgheib L...Namazi MR	19032384	2009
21	Elevated frequency of p53 genetic mutations and AgNOR values in squamous cell carcinoma. ⁵³ ⁶²	Bukhari MH...Hasan M	18715257	2009
22	Immunohistochemical detection of p53 protein in basal cell skin cancer after microwave-assisted antigen retrieval. ⁵³ ⁶²	Evke E...Kahveci Z	19096907	2009
23	A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report. ⁵³ ⁶²	Hellani A...Abu-Amero KK	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	Brudnik U...Kanas P	18637131	2009
25	The expression of p63 and p53 in keratoacanthoma and intraepidermal and invasive neoplasms of the skin. ⁵³ ⁶²	Sakiz D...Kabukcuoglu F	19577853	2009
26	Immunohistochemical galectin-3 expression in non-melanoma skin cancers. ⁵³ ⁶²	Kapucuoglu N...Akkaya VB	18951731	2009
27	Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk. ⁵³ ⁶²	Nan H...Han J	19064570	2008
28	Characteristic overexpression of the forkhead box transcription factor Foxf1 in Patched-associated tumors. ⁵³ ⁶²	Wendling DS...Kappler R	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	Puizina-Ivic N...Miric L	19138009	2008
30	PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients. ⁵³ ⁶²	Harwood CA...Karran P	18854826	2008
31	Expression of the hair stem cell-specific marker nestin in epidermal and follicular tumors. ⁵³ ⁶²	Kanoh M...Katsuoka K	18693153	2008
32	Patched-one or smoothened gene mutations are infrequent in chondrosarcoma. ⁵³ ⁶²	Yan T...Wunder JS	18543049	2008
33	Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. ⁵³ ⁶²	Le Brun Keris Y...Lespinasse J	18539553	2008
34	Ultraviolet responses of Gorlin syndrome primary skin cells. ⁵³ ⁶²	Brellier F...Magnaldo T	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	Otsubo S...Iizuka H	18436435	2008
36	Elastic fiber staining and cytokeratin 15 expression pattern in trichoepithelioma and basal cell carcinoma. ⁵³ ⁶²	Choi CW...Cho KH	18789069	2008
37	Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome. ⁵³ ⁶²	Laimer M...Bauer JW	18476955	2008
38	PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. ⁵³ ⁶²	Sun LS...Li TJ	18502968	2008
39	Gli2 upregulates cFlip and renders basal cell carcinoma cells resistant to death ligand-mediated apoptosis. ⁵³ ⁶²	Kump E...Erb P	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	Son KD...Kang CS	18404670	2008
41	A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. ⁵³ ⁶²	Fan Z...Wang S	18285427	2008
42	MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. ⁵³ ⁶²	Scherer D...Kumar R	18067130	2008
43	Nonmonoclonal PTCH gene mutations in psoralen plus UVA-associated basal cell carcinomas. ⁵³ ⁶²	Heitzer E...Wolf P	18059486	2008
44	Does the panel of cytokeratin 20 and androgen receptor antibodies differentiate desmoplastic trichoepithelioma from morpheaform/infiltrative basal cell carcinoma? ⁵³ ⁶²	Katona TM...Billings SD	18190441	2008
45	Microcystic adnexal carcinoma: an immunohistochemical reappraisal. ⁵³ ⁶²	Hoang MP...Mahalingam M	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	Palmer HG...Watt FM	18213391	2008
47	A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. ⁵³ ⁶²	Lu Y...Chen WT	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	Abe S...Tokura Y	19002359	2008
49	Immunolabeling pattern of cytokeratin 19 expression may distinguish sebaceous tumors from basal cell carcinomas. ⁵³ ⁶²	Heyl J...Mehregan D	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	Boyd S...Saarialho-Kere U	18034264	2008

Sources

Genes for Basal Cell Carcinoma

Genes related to Basal Cell Carcinoma (8 elite genes):

(show top 50) (show all 157)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	441.86	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Functions (show sections)	19726788 22679179 25759020 (more) 11133163 9581815 14634745 17214858 15656799 18502968
2	PALB2	Partner And Localizer Of BRCA2	Protein Coding	404.61	Pathogenic ⁵ DISEASES inferred ¹⁴
3	BCC1	Basal Cell Carcinoma, Susceptibility To, 1	Genetic Locus	58.44	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
4	BCC2	Basal Cell Carcinoma, Susceptibility To, 2	Genetic Locus	58.44	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
5	BCC3	Basal Cell Carcinoma, Susceptibility To, 3	Genetic Locus	58.44	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
6	BCC4	Basal Cell Carcinoma, Susceptibility To, 4	Genetic Locus	58.44	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
7	BCC5	Basal Cell Carcinoma, Susceptibility To, 5	Genetic Locus	58.44	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
8	BCC6	Basal Cell Carcinoma, Susceptibility To, 6	Genetic Locus	58.44	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
9	CDKN2B-AS1	CDKN2B Antisense RNA 1	RNA Gene	155.18	Experimental evidence ³⁷ DISEASES inferred ¹⁴	19578363 20956613 26861560
10	CASC15	Cancer Susceptibility 15	RNA Gene	153.93	Experimental evidence ³⁷ DISEASES inferred ¹⁴	26861560
11	PTCH1	Patched 1	Protein Coding	47.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	18543049 11174390 11340611 (more) 9354420 15545745 18476955 12007715 16301862 19203369 18854826 17597182 9192803 15598212 9278137 11752813 12661924 12655573 12670916 12771948 14647422 16914743 16484983 18510667 19002359 18754037 19233320 9071574 11130178 18272036 16849540 15888139 15534865 15492281 9439661 19020777 16280022 14699618 9425597 19473442 17703323 17214858 16855496 14613484 14634745 11277394 10725363 18502968 16780502 16207184 15521068 15656799 15347344 12407090 11312426 10375116 10332131 10489624 10029063 9354432 8658145 15592520 15116327 12423429 11331587 10728988 10545995 9192811 18285427 18059486 17328283 11457640 9931336 9581815 12845631 12192414 11159175 10838143 12203113 12615704 12907651 15087129 16204023 18539553 18436435 19642973 2297704 7634433 9041183
12	PTCH2	Patched 2	Protein Coding	43.38	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Functions (show sections)
13	TP53	Tumor Protein P53	Protein Coding	32.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	17301441 16649377 11173659 (more) 11511317 1617650 7653177 10677095 19513627 8707401 12485439 11938785 19187116 9158413 9044855 15447725 8187055 9308559 19096907 12007715 7769260 20191172 16554913 11494035 8437842 10774937 15701081 15377354 15143984 12950498 12401820 11911244 10362120 1632467 19915453 10545995 9764849 9204056 7576299 8151121 7507946 8227547 19298278 12619107 9627707 7665920 8300928 8286219 18715257 16012876 15269985 15268709 11981662 15656799 14669293 11257620 11255264 10594739 10489624 10349981 8875958 7508232 9343491 16075605 12538474 11835772 10568172 15492790 12239425 11187133 10190297 8304762 1468757 19577853 16700663 17101476 16500447 16142387 12928545 11298546 11159175 9766670 9627703 18404670 17403527 19800766 15005689 11752813 10994771 10498902 8483937 8261448
14	GLI1	GLI Family Zinc Finger 1	Protein Coding	26.44	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10504446 19948058 18754037 (more) 12235001 12907651 15313903 16434164 16158046 11948912 12183437 12165851 15175043 16421275
15	GLI2	GLI Family Zinc Finger 2	Protein Coding	24.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15175043 19797115 15140221 (more) 18264131 12786818
16	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	23.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10504535 15547729
17	MC1R	Melanocortin 1 Receptor	Protein Coding	22.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11179997 10340440 16645598 (more) 18067130 15105175 16721784 10029451 18637131
18	PTEN	Phosphatase And Tensin Homolog	Protein Coding	22.09	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
19	CYLD	CYLD Lysine 63 Deubiquitinase	Protein Coding	21.86	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
20	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	21.57	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15656799
21	KRT15	Keratin 15	Protein Coding	21.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10235375 18065959 18693153 (more) 10417438 18789069
22	KRT17	Keratin 17	Protein Coding	21.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7509818
23	BCL2	BCL2 Apoptosis Regulator	Protein Coding	21.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12575847 20191172 19138009 (more) 9335236 7747803 11938785 9158413 10885404 8043419 7479356 9063499 10235376 15377354 17184279 14669293 11257620 10487292 10469343 10193941 10535579 15073659 9415228 11298546 11911244 9256917 19719835 10774937 10994771
24	KRT20	Keratin 20	Protein Coding	21.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18190441 10235376 17284955 (more) 9808429 11433614 17448197 18065959
25	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	19.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15941969 9950243
26	CTNNB1	Catenin Beta 1	Protein Coding	19.24	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12014624 12786827 17973813 (more) 14633602 10571513 19384065 10891006 15701088 17890917
27	MMP11	Matrix Metallopeptidase 11	Protein Coding	19.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1342967 8757754 8297480 (more) 11701402 9557781 1469302 10218674 17596171
28	PPP1R13L	Protein Phosphatase 1 Regulatory Subunit 13 Like	Protein Coding	18.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12433725 15885892
29	GSTM3	Glutathione S-Transferase Mu 3	Protein Coding	18.4	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8616834
30	FOXE1	Forkhead Box E1	Protein Coding	18.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15140221 15367491
31	TP63	Tumor Protein P63	Protein Coding	18.02	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16630179 17316758 14756145 (more) 19577853 17276940 11532371 15268709
32	GSTM1	Glutathione S-Transferase Mu 1	Protein Coding	17.93	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16582078 7634433 9950241 (more) 11044240 8824510
33	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	17.72	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15116327
34	CD44	CD44 Molecule (Indian Blood Group)	Protein Coding	17.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8835172 11896210 8682591 (more) 7536764 8731670 8599448 12534600
35	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	17.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15885892
36	MKI67	Marker Of Proliferation Ki-67	Protein Coding	17.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9063499 8555026 15143984 (more) 8682591 8379690 9236901
37	KRT16	Keratin 16	Protein Coding	16.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7509818
38	XRCC3	X-Ray Repair Cross Complementing 3	Protein Coding	16.46	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15126335 18067130
39	CD34	CD34 Molecule	Protein Coding	16.26	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18693153
40	CRABP2	Cellular Retinoic Acid Binding Protein 2	Protein Coding	16.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8618041
41	LAMC2	Laminin Subunit Gamma 2	Protein Coding	15.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7551559
42	MMP13	Matrix Metallopeptidase 13	Protein Coding	15.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12782009 9242512 17099730 (more) 15221674
43	MME	Membrane Metalloendopeptidase	Protein Coding	15.64	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15618927 16420307
44	DST	Dystonin	Protein Coding	15.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9424087
45	VDR	Vitamin D Receptor	Protein Coding	15.43	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10433950 18213391 12899528 (more) 16950800
46	FASLG	Fas Ligand	Protein Coding	15.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16638418 17469758 12787140 (more) 9767230
47	CYP1A1	Cytochrome P450 Family 1 Subfamily A Member 1	Protein Coding	14.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16582078 8824510
48	LGALS3	Galectin 3	Protein Coding	14.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10375595 18951731
49	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	14.76	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
50	MCL1	MCL1 Apoptosis Regulator, BCL2 Family Member	Protein Coding	14.67	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12445202 19369967

Sources

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

Sources

Expression for Basal Cell Carcinoma

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

Sources

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	Signal Transduction ⁶⁶	13.65	CYLD GLI1 GLI2 MC1R PTCH1 PTCH2
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.51	SMO PTCH2 PTCH1 GLI2 GLI1
3	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.33	GLI1 GLI2 PTCH1 SHH SMO SUFU
4	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of kainate receptors upon glutamate binding ⁶⁶ Activation of Na-permeable kainate receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta:gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of kainate receptors ⁶⁶	12.27	SMO SHH PTCH2 PTCH1
5	Wnt / Hedgehog / Notch ³	12.06	CYLD GLI1 GLI2 PTCH1 PTCH2 SHH
6	Ciliopathies ⁷⁴	11.79	SUFU SMO GLI2
7	Osteoblast differentiation and related diseases ⁷⁴	11.51	SMO PTCH1 GLI2
8	Development of ureteric collection system ⁷⁴	11.41	SMO SHH GLI2 GLI1
9	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.36	SMO SHH PTCH1 GLI2 GLI1
10	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	11.28	SMO SHH PTCH2 PTCH1 GLI2
11	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	11.24	SMO PTCH1 GLI2 GLI1
12	Dopaminergic neurogenesis ⁷⁴	11.16	SHH GLI2 GLI1
13	Hedgehog signaling events mediated by Gli proteins ⁶¹	11.01	SUFU SMO SHH PTCH1 GLI2 GLI1
14	Hair follicle development: organogenesis - part 2 of 3 ⁷⁴	10.95	SMO SHH PTCH1 GLI2 GLI1
15	Hedgehog signaling pathway ⁷⁴	10.79	SUFU SMO SHH PTCH2 PTCH1 GLI2
16	EDA signaling in hair follicle development ⁷⁴	10.69	SHH PTCH1 GLI1
17	Glypican 3 network ⁶¹	10.45	SHH PTCH1

Sources

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