BCC1
MCID: BSL024
MIFTS: 47

Basal Cell Carcinoma 1 (BCC1)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Basal Cell Carcinoma 1

MalaCards integrated aliases for Basal Cell Carcinoma 1:

Name: Basal Cell Carcinoma 1 56
Basal Cell Carcinoma, Susceptibility to, 1 56 13
Basal Cell Carcinoma 73 71
Carcinoma, Basal Cell, Susceptibility to, Type 1 39
Experimental Organism Basal Cell Carcinoma 71
Non-Syndromic Basal Cell Carcinoma 73
Basal Cell Carcinoma, Multiple 71
Multiple Basal Cell Carcinoma 73
Bcc1 56
Bcc 73

Classifications:



External Ids:

OMIM 56 605462
MeSH 43 D002280
SNOMED-CT via HPO 68 1338007 254701007 275265005
UMLS 71 C0007117 C1854245 C3811653

Summaries for Basal Cell Carcinoma 1

OMIM : 56 Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009). The primary environmental risk factor for BCC is sun exposure, but genetics also has a substantial role. Some of the sequence variants that confer susceptibility seem to operate through their association with fair-pigmentation traits common among Europeans, resulting in reduced protection from the damaging effects of ultraviolet (UV) radiation. Other sequence variants have no obvious role in pigmentation or UV susceptibility but instead seem to operate in the contexts of growth and differentiation of the basal layers of the skin (Stacey et al., 2008; Epstein, 2008; Gudbjartsson et al., 2008; Rafnar et al., 2009). See ASIP (600201), TYR (606933), and SHEP5 (227240) for examples of basal cell carcinoma associated with fair skin or sensitivity to sun. Basal cell carcinoma occurs as a feature of multiple syndromes, including basal cell nevus syndrome (BCNS; 109400), Bazex syndrome (301845), Rombo syndrome (180730), Brooke-Spiegler syndrome (605041), Muir-Torre syndrome (158320), and xeroderma pigmentosum (see 278700). Abnormalities in the Hedgehog signaling pathway are found in basal cell carcinomas; see SHH (600725) and SMOH (601500). (605462)

MalaCards based summary : Basal Cell Carcinoma 1, also known as basal cell carcinoma, susceptibility to, 1, is related to basal cell carcinoma, multiple and basal cell carcinoma. An important gene associated with Basal Cell Carcinoma 1 is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways is Axon guidance. The drugs Fluorouracil and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and brain, and related phenotypes are basal cell carcinoma and Decreased shRNA abundance (Z-score < -2)

UniProtKB/Swiss-Prot : 73 Basal cell carcinoma: A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.

Related Diseases for Basal Cell Carcinoma 1

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 Cell Type Cancer
Basal Cell Carcinoma Large Cell Carcinoma
Basal Cell Carcinoma, Multiple

Diseases related to Basal Cell Carcinoma 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 684)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma, multiple 32.9 RASA1 PTCH1
2 basal cell carcinoma 30.6 RASA1 PTCH1 BCC1
3 meningioma, familial 29.1 RASA1 PTCH1
4 nodular basal cell carcinoma 12.8
5 basal cell carcinoma, infundibulocystic 12.8
6 basal cell carcinoma 7 12.8
7 pigmented basal cell carcinoma 12.7
8 metatypical basal cell carcinoma 12.7
9 micronodular basal cell carcinoma 12.7
10 anal margin basal cell carcinoma 12.7
11 penis basal cell carcinoma 12.7
12 superficial basal cell carcinoma 12.6
13 basal cell nevus syndrome 12.6
14 morpheaform basal cell carcinoma 12.6
15 cystic basal cell carcinoma 12.6
16 adenoid basal cell carcinoma 12.6
17 sarcomatoid basal cell carcinoma 12.6
18 clear cell basal cell carcinoma 12.6
19 basal cell carcinoma 5 12.6
20 basal cell carcinoma 2 12.6
21 basal cell carcinoma 3 12.6
22 basal cell carcinoma 6 12.6
23 vulva basal cell carcinoma 12.6
24 basal cell carcinoma 4 12.6
25 external ear basal cell carcinoma 12.6
26 signet ring basal cell carcinoma 12.6
27 vulvar basal cell carcinoma 12.5
28 infiltrative basal cell carcinoma 12.5
29 scrotum basal cell carcinoma 12.5
30 fibroepithelial basal cell carcinoma 12.5
31 bazex syndrome 12.5
32 follicular basal cell carcinoma 12.4
33 sebaceous basal cell carcinoma 12.4
34 rombo syndrome 12.2
35 adamantinoid basal cell epithelioma 11.8
36 bap1 tumor predisposition syndrome 11.7
37 trichoepithelioma, multiple familial, 1 11.7
38 9q22.3 microdeletion 11.7
39 squamous cell carcinoma 11.7
40 brooke-spiegler syndrome 11.6
41 cartilage-hair hypoplasia 11.5
42 multiple familial trichoepithelioma 11.5
43 clear cell acanthoma 11.5
44 inflammatory linear verrucous epidermal nevus 11.5
45 prostate cancer 11.5
46 epidermolysis bullosa simplex, dowling-meara type 11.2
47 rothmund-thomson syndrome, type 2 11.2
48 prostate cancer, hereditary, 1 11.2
49 prostate cancer, hereditary, 12 11.2
50 prostate cancer, hereditary, 13 11.2

Graphical network of the top 20 diseases related to Basal Cell Carcinoma 1:



Diseases related to Basal Cell Carcinoma 1

Symptoms & Phenotypes for Basal Cell Carcinoma 1

Human phenotypes related to Basal Cell Carcinoma 1:

31
# Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 31 HP:0002671

Clinical features from OMIM:

605462

GenomeRNAi Phenotypes related to Basal Cell Carcinoma 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.28 RASA1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.28 RASA1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.28 PTCH1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.28 PTCH1 RASA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.28 RASA1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.28 PTCH1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.28 PTCH1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.28 RASA1

Drugs & Therapeutics for Basal Cell Carcinoma 1

Drugs for Basal Cell Carcinoma 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 251)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 4 51-21-8 3385
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Aminolevulinic acid Approved Phase 4 106-60-5 137
4
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
5 Interferon-alpha Phase 4
6 Antimetabolites Phase 4
7 Triamcinolone hexacetonide Phase 4
8 Triamcinolone diacetate Phase 4
9 triamcinolone acetonide Phase 4
10 Tin Fluorides Phase 4
11 polysaccharide-K Phase 4
12 Dermatologic Agents Phase 4
13 Photosensitizing Agents Phase 4
14 Immunologic Factors Phase 4
15 Adjuvants, Immunologic Phase 4
16 interferons Phase 4
17 Interferon Inducers Phase 4
18 Pharmaceutical Solutions Phase 4
19
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
20
Cevimeline Approved Phase 3 107233-08-9 83898 25137844
21
Fluconazole Approved, Investigational Phase 2, Phase 3 86386-73-4 3365
22
Megestrol acetate Approved, Investigational, Vet_approved Phase 3 595-33-5 11683
23
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
24
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
25
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
26
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
27
Verteporfin Approved, Investigational Phase 3 129497-78-5
28
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
29
Ornithine Approved, Nutraceutical Phase 3 70-26-8, 3184-13-2 6262
30 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
31
BCG vaccine Investigational Phase 3
32 Anesthetics Phase 3
33 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3
34 Antifungal Agents Phase 2, Phase 3
35 Steroid Synthesis Inhibitors Phase 2, Phase 3
36 Analgesics Phase 3
37 Vaccines Phase 3
38 Keratolytic Agents Phase 3
39 Anti-Bacterial Agents Phase 3
40 Antibiotics, Antitubercular Phase 3
41 Topoisomerase Inhibitors Phase 3
42 Muscarinic Agonists Phase 3
43 Cholinergic Agents Phase 3
44 Cytochrome P-450 CYP2C9 Inhibitors Phase 2, Phase 3
45 Adjuvants, Anesthesia Phase 3
46 Anesthetics, General Phase 3
47 Anesthetics, Intravenous Phase 3
48 Antiprotozoal Agents Phase 3
49 Antiparasitic Agents Phase 3
50 Contraceptive Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 299)
# Name Status NCT ID Phase Drugs
1 Imiquimod 5% Cream for the Treatment of Periocular Basal Cell Carcinoma Unknown status NCT00803907 Phase 4 Imiquimod 5% cream
2 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
3 Intron-A/Aldara Combination Therapy for BCC Excluding the Face and Scalp Completed NCT00581425 Phase 4
4 Topical Imiquimod 5% Cream in the Treatment of Nodular Basal Cell Carcinoma After Initial Treatment With Curettage Completed NCT00314756 Phase 4 imiquimod
5 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
6 An Open-Label Study Using the MedPulser Electroporation System to Treat Cutaneous and Subcutaneous Foci of Cancer Completed NCT00198276 Phase 4
7 CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial Completed NCT00847912 Phase 4 5-fluorouracil;Placebo, vehicle control
8 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 Recruiting NCT03610022 Phase 4 Treatment with vismodegib
9 VISmodegib for ORbital and Periocular Basal Cell Carcinoma (VISORB) Active, not recruiting NCT02436408 Phase 4 Vismodegib
10 An Exploratory, Open-label Study of Sequential Field-directed Treatment of Actinic Keratoses of the Face With Imiquimod 3.75% Cream Followed by Photodynamic Therapy Terminated NCT01203878 Phase 4 Photodynamic therapy;Imiquimod
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 Open Label, Randomized Comparison of Two Schemes of Cryosurgery and Imiquimod Combination Treatment for Basal Cell Carcinoma of the Skin Completed NCT01212549 Phase 3
20 A Randomized Controlled Trial of Excisional Surgery Versus Imiquimod 5% Cream for Nodular and Superficial Basal Cell Carcinoma Completed NCT00066872 Phase 3 imiquimod
21 A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of Cevimeline in the Treatment of Xerostomia Secondary to Radiation Therapy for Cancer in the Head and Neck Region Completed NCT00017511 Phase 3 cevimeline hydrochloride
22 A PHASE II/III PILOT STUDY OF THE EFFECTS OF PROPHYLACTIC FLUCONAZOLE THERAPY ON MUCOSITIS IN PATIENTS UNDERGOING RADIATION TREATMENT FOR HEAD AND NECK CANCER Completed NCT00002533 Phase 2, Phase 3 fluconazole
23 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
24 A Phase III, Double-Blind, Randomized Study Of The Effect Of Megestrol Acetate On Weight And Health Related Quality Of Life In Head And Neck Cancer Patients Receiving Radiation Therapy Completed NCT00006799 Phase 3 megestrol acetate
25 Acupuncture for Pain and Dysfunction Following Neck Dissection: A Randomized, Controlled, Phase III Trial Completed NCT00090337 Phase 3
26 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
27 CSP #402 - VA Topical Tretinoin Chemoprevention Trial Completed NCT00007631 Phase 3 Tretinoin 0.1% cream or placebo
28 Chemoprevention of Skin Cancers With DFMO: A Controlled, Randomized Clinical Trial Completed NCT00005884 Phase 3 eflornithine
29 A Multicenter, Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Comparison Study to Determine the Therapeutic Equivalence of Generic Imiquimod Cream, 2.5% and Zyclara® (Imiquimod) Cream, 2.5% in Subjects With Actinic Keratoses Completed NCT02120898 Phase 3 Imiquimod;Zyclara®;Vehicle Cream
30 A Randomized Double-Blind Study of Doxepin Rinse Versus Placebo in the Treatment of Acute Oral Mucositis Pain in Patients Receiving Radiotherapy With or Without Chemotherapy Completed NCT01156142 Phase 3 doxepin hydrochloride
31 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
32 A Randomised Study of Sequential Versus Combination Chemotherapy in Patients With Previously Untreated Advanced Colorectal Carcinoma Completed NCT00312000 Phase 3 capecitabine-irinotecan;capecitabine+irinotecan (1st line)
33 Sequential Bacillus Calmette-Guérin and Electromotive Mitomycin-C Versus Bacillus Calmette-Guérin Alone for High Risk Superficial Bladder Cancer: a Prospective Randomised Study Completed NCT01442519 Phase 3 electromotive mitomycin
34 A Randomised Controlled Multicentre Trial of Imiquimod Versus Radiotherapy for Lentigo Maligna (LM) When Staged Surgical Excision With 5mm Margins is Not Possible, is Refused, or Fails Recruiting NCT02394132 Phase 3 Imiquimod
35 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
36 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) Active, not recruiting NCT02144077 Phase 3 BF-200 ALA;methyl-aminolevulinate
37 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
38 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 Active, not recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
39 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
40 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
41 Phase III Randomized Study of Hypericum Perforatum (St. John's Wort) Combined With Docetaxel in Patients With Unresectable Solid Tumors Withdrawn NCT00041171 Phase 3 Hypericum perforatum;docetaxel
42 Investigation of the Effectiveness of Non-Coherent Blue Light in Intralesional Photodynamic of Basal Cell Carcinoma Unknown status NCT00747903 Phase 2 aminolevulinic acid hydrochloride
43 A Single Arm, Phase II, Multicenter Study To Assess The Efficacy And Safety Of Vismodegib And Radiotherapy In Patients With High Risk Or Locally Advanced Basal Cell Carcinoma Not Amenable To Radical Surgery Unknown status NCT02956889 Phase 2 Vismodegib
44 Skin Cancer Prophylaxis by Low-Fat Dietary Intervention Unknown status NCT00003097 Phase 2
45 A Phase II Study of Gefitinib in Benefited Patients With Asymptomatic Brain Metastasis Advanced Non-Small Cell Lung Cancer by Chemotherapy Unknown status NCT00614809 Phase 2 gefitinib
46 Radiation Therapy in Combination With Indinavir / Ritonavir (Crixivan / Norvir) for the Treatment of Brain Metastases: a Randomized Phase II Study Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
47 Phase II Study of 3-Dimensional Conformal Radiotherapy (3D-CRT) vs Intensity Modulated Radiotherapy (IMRT) for Squamous Cell Carcinoma of the Head and Neck (HNSCC) Unknown status NCT00652613 Phase 2
48 A Randomized, Double-blinded, Regimen-controlled, Phase II, Multicenter Study to Assess the Efficacy and Safety of Two Different Vismodegib Regimens in Patients With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
49 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
50 A Single Arm, Open-label, Phase II, Multicentre Study, to Assess the Safety of Vismodegib (GDC-0449) in Patient With Locally Advanced or Metastatic Basal Cell Carcinoma (BCC) Completed NCT01367665 Phase 2 vismodegib

Search NIH Clinical Center for Basal Cell Carcinoma 1

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


Fluorouracil

Genetic Tests for Basal Cell Carcinoma 1

Anatomical Context for Basal Cell Carcinoma 1

MalaCards organs/tissues related to Basal Cell Carcinoma 1:

40
Skin, Prostate, Brain, Lung, Kidney, Bone, Liver

Publications for Basal Cell Carcinoma 1

Articles related to Basal Cell Carcinoma 1:

(show top 50) (show all 51)
# Title Authors PMID Year
1
A slow-cycling LGR5 tumour population mediates basal cell carcinoma relapse after therapy. 56
30297799 2018
2
A cell identity switch allows residual BCC to survive Hedgehog pathway inhibition. 56
30297801 2018
3
Inhibition of the hedgehog pathway in advanced basal-cell carcinoma. 56
19726763 2009
4
New common variants affecting susceptibility to basal cell carcinoma. 56
19578363 2009
5
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. 56
19151717 2009
6
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. 56
18849993 2008
7
Basal cell carcinomas: attack of the hedgehog. 56
18813320 2008
8
Pathological responses to oncogenic Hedgehog signaling in skin are dependent on canonical Wnt/beta3-catenin signaling. 56
19165927 2008
9
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 56
18488027 2008
10
Cutaneous basal cell carcinomas: distinct host factors are associated with the development of tumors on the trunk and on the head and neck. 56
11466690 2001
11
Nonsyndromic type of hereditary multiple basal cell carcinoma. 56
11078568 2000
12
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 56
9931336 1999
13
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. 56
9620294 1998
14
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. 56
8782823 1996
15
Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours. 56
8275088 1993
16
Exploratory Assessment of Oxygen Flow-Assisted Cutaneous Administration of Methotrexate for Superficial Basal Cell Carcinoma, Mycosis Fungoides, and Extramammary Paget Disease. 61
31513804 2019
17
β-Aminopeptidases: Insight into Enzymes without a Known Natural Substrate. 61
31126950 2019
18
A randomized, double-blind, placebo-controlled investigation of BCc1 nanomedicine effect on survival and quality of life in metastatic and non-metastatic gastric cancer patients. 61
30971278 2019
19
Effects of BCc1 nanoparticle and its mixture with doxorubicin on survival of murine 4T1 tumor model. 61
31354301 2019
20
Understanding the functions of endogenous DOF transcript factor in Chlamydomonas reinhardtii. 61
30972144 2019
21
Evaluation of Immunohistochemical Findings and Clinical Features Associated with Local Aggressiveness in Basal Cell Carcinoma. 61
31582995 2019
22
Graviola (Annona muricata) Exerts Anti-Proliferative, Anti-Clonogenic and Pro-Apoptotic Effects in Human Non-Melanoma Skin Cancer UW-BCC1 and A431 Cells In Vitro: Involvement of Hedgehog Signaling. 61
29914183 2018
23
Orbitofacial Metastatic Basal Cell Carcinoma: Report of 10 Cases. 61
27218810 2017
24
TiZrNbTaMo high-entropy alloy designed for orthopedic implants: As-cast microstructure and mechanical properties. 61
28183676 2017
25
BCc1, the novel antineoplastic nanocomplex, showed potent anticancer effects in vitro and in vivo. 61
26766901 2016
26
Cancer Screening of Renal Transplant Patients Undergoing Long-Term Immunosuppressive Therapy. 61
26093731 2015
27
Reconstruction of scalp wounds with exposed calvarium using a local flap and a split-thickness skin graft: case series of 20 patients. 61
24438208 2014
28
Statistical analysis of high frequency ultrasonic backscattered signals from basal cell carcinomas. 61
22920547 2012
29
Cutaneous manifestations in renal transplant recipients of Santiago, Chile. 61
19917380 2009
30
Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus. 61
16858417 2007
31
Analysis of clonality and HPV infection in benign, hyperplastic, premalignant, and malignant lesions of the vulvar mucosa. 61
15323144 2004
32
Isolation (from a basal cell carcinoma) of a functionally distinct fibroblast-like cell type that overexpresses Ptch. 61
11982765 2002
33
Interaction between bcl-2 and P53 in neoplastic progression of basal cell carcinoma of the head and neck. 61
11911244 2001
34
P53 and hMSH2 expression in basal cell carcinomas and malignant melanomas from photoexposed areas of head and neck region. 61
11494035 2001
35
DNA ploidy and cyclin D1 expression in basal cell carcinoma of the head and neck. 61
11392875 2001
36
Prognostic value of apoptotic index in cutaneous basal cell carcinomas of head and neck. 61
10705087 1999
37
Maggot therapy for the treatment of intractable wounds. 61
10487456 1999
38
Immunohistochemical distinction of ocular sebaceous carcinoma from basal cell and squamous cell carcinoma. 61
10369589 1999
39
Cutaneous infiltrate of chronic lymphocytic leukemia and relationship to primary cutaneous epithelial neoplasms. 61
9550315 1998
40
The role of stereotactic radiosurgery in the treatment of malignant skull base tumors. 61
9392534 1997
41
Modulation of the ER Ca2+ channel BCC1 from tendrils of Bryonia dioica by divalent cations, protons and H2O2. 61
9166905 1997
42
A preliminary pharmacokinetic study of intravenous Photofrin in patients. 61
9612197 1996
43
The prognostic significance of tumor angiogenesis in nonaggressive and aggressive basal cell carcinoma of the human skin. 61
8698314 1996
44
p53 protein in aggressive and non-aggressive basal cell carcinoma. 61
7507946 1993
45
Verrucous cysts: histopathologic characterization and molecular detection of human papillomavirus-specific DNA. 61
8300926 1993
46
[A nasal reconstruction via the expansion of the tissue]. 61
8165892 1993
47
Nucleolar organizer regions in aggressive and nonaggressive basal cell carcinoma of the skin. 61
1727656 1992
48
Ras mutations in United Kingdom examples of oral malignancies are infrequent. 61
2040536 1991
49
Comparative morphometric analysis of aggressive and ordinary basal cell carcinoma of the skin. 61
2297645 1990
50
HMB-45 recognizes stimulated melanocytes. 61
2668355 1989

Variations for Basal Cell Carcinoma 1

ClinVar genetic disease variations for Basal Cell Carcinoma 1:

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RASA1 NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)SNV Pathogenic 213660 rs863223718 5:86672329-86672329 5:87376512-87376512
2 RASA1 NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)SNV Pathogenic 464870 rs1554044823 5:86627281-86627281 5:87331464-87331464
3 PTCH1 NM_001083602.2(PTCH1):c.3721C>T (p.Pro1241Ser)SNV Conflicting interpretations of pathogenicity 132753 rs574880967 9:98209619-98209619 9:95447337-95447337
4 PTCH1 NM_001083602.2(PTCH1):c.1791G>C (p.Gln597His)SNV Conflicting interpretations of pathogenicity 237462 rs753002023 9:98231294-98231294 9:95469012-95469012
5 PTCH1 NM_001083602.2(PTCH1):c.4-1726C>GSNV Conflicting interpretations of pathogenicity 188208 rs779791579 9:98270607-98270607 9:95508325-95508325
6 PTCH1 NM_001083602.2(PTCH1):c.4-1582G>ASNV Uncertain significance 409215 rs150069331 9:98270463-98270463 9:95508181-95508181
7 PTCH1 NM_001083602.2(PTCH1):c.940G>A (p.Glu314Lys)SNV Uncertain significance 409137 rs772903899 9:98241359-98241359 9:95479077-95479077
8 PTCH1 NM_001083602.2(PTCH1):c.3826C>T (p.Arg1276Cys)SNV Uncertain significance 409167 rs781539921 9:98209514-98209514 9:95447232-95447232
9 PTCH1 NM_001083602.2(PTCH1):c.3536A>G (p.Gln1179Arg)SNV Uncertain significance 409208 rs767792734 9:98211421-98211421 9:95449139-95449139
10 PTCH2 NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)SNV Uncertain significance 453938 rs539161089 1:45288751-45288751 1:44823079-44823079
11 PTCH2 NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)SNV Uncertain significance 453931 rs1030456781 1:45308586-45308586 1:44842914-44842914
12 PTCH1 NM_001083602.2(PTCH1):c.3964G>A (p.Gly1322Arg)SNV Uncertain significance 135105 rs587778631 9:98209376-98209376 9:95447094-95447094
13 PTCH1 NM_001083602.2(PTCH1):c.3853A>G (p.Asn1285Asp)SNV Uncertain significance 188148 rs786204103 9:98209487-98209487 9:95447205-95447205
14 PTCH1 NM_001083602.2(PTCH1):c.2242A>C (p.Asn748His)SNV Uncertain significance 188150 rs754623561 9:98229518-98229518 9:95467236-95467236
15 PTCH1 NM_001083602.2(PTCH1):c.2437G>A (p.Asp813Asn)SNV Uncertain significance 216378 rs750373573 9:98224206-98224206 9:95461924-95461924
16 PTCH1 NM_001083602.2(PTCH1):c.3845A>G (p.Asn1282Ser)SNV Uncertain significance 220391 rs371943557 9:98209495-98209495 9:95447213-95447213
17 PTCH1 NM_001083602.2(PTCH1):c.2473G>A (p.Gly825Ser)SNV Uncertain significance 220717 rs570091335 9:98224170-98224170 9:95461888-95461888
18 PTCH1 NM_001083602.2(PTCH1):c.3377G>A (p.Arg1126His)SNV Uncertain significance 486183 rs762040036 9:98211580-98211580 9:95449298-95449298
19 PTCH1 NM_001083602.2(PTCH1):c.214C>T (p.Arg72Cys)SNV Uncertain significance 486174 rs139535966 9:98248139-98248139 9:95485857-95485857
20 PTCH2 NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)SNV Uncertain significance 524558 rs747885797 1:45297430-45297430 1:44831758-44831758
21 PTCH1 NM_001083602.2(PTCH1):c.3710G>T (p.Arg1237Leu)SNV Uncertain significance 524547 rs779365332 9:98209630-98209630 9:95447348-95447348
22 PTCH1 NM_001083602.2(PTCH1):c.703G>A (p.Asp235Asn)SNV Uncertain significance 524544 rs767601899 9:98242716-98242716 9:95480434-95480434
23 PTCH1 NM_001083602.2(PTCH1):c.2089G>T (p.Val697Phe)SNV Uncertain significance 524507 rs544963328 9:98229671-98229671 9:95467389-95467389
24 PTCH2 NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)SNV Uncertain significance 570977 rs768246990 1:45307675-45307675 1:44842003-44842003
25 PTCH1 NM_001083602.2(PTCH1):c.3940G>A (p.Ala1314Thr)SNV Uncertain significance 577111 rs111481152 9:98209400-98209400 9:95447118-95447118
26 PTCH1 NM_001083602.2(PTCH1):c.3851G>A (p.Arg1284Gln)SNV Uncertain significance 577136 rs978722722 9:98209489-98209489 9:95447207-95447207
27 PTCH1 NM_001083602.2(PTCH1):c.751C>T (p.Leu251Phe)SNV Uncertain significance 578248 rs1380199153 9:98242369-98242369 9:95480087-95480087

UniProtKB/Swiss-Prot genetic disease variations for Basal Cell Carcinoma 1:

73
# Symbol AA change Variation ID SNP ID
1 PTCH1 p.Arg1114Trp VAR_007847 rs587776689

Cosmic variations for Basal Cell Carcinoma 1:

9 (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 COSM149268805 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 6
2 COSM149259613 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 6
3 COSM149268792 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 6
4 COSM149268800 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 6
5 COSM149304906 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 6
6 COSM149331772 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 6
7 COSM149266372 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 6
8 COSM101976974 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 6
9 COSM87040659 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 6
10 COSM87027025 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 6
11 COSM87028684 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 6
12 COSM90144180 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 6
13 COSM88644633 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 6
14 COSM87925664 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159= 17:7675135-7675135 6
15 COSM87919454 TP53 skin,NS,carcinoma,basal cell carcinoma c.395A>T p.K132M 17:7675217-7675217 6
16 COSM88272290 TP53 skin,NS,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 6
17 COSM87898709 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 6
18 COSM87910628 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 6
19 COSM88387703 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 6
20 COSM87963219 TP53 skin,NS,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 6
21 COSM87929396 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 6
22 COSM87898723 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 6
23 COSM88310572 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 6
24 COSM87898714 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 6
25 COSM87898991 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 6
26 COSM88408340 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 6
27 COSM87906968 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 17:7673787-7673787 6
28 COSM87910495 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 6
29 COSM87899497 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 6
30 COSM87906130 TP53 skin,NS,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 6
31 COSM87919200 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 17:7675101-7675101 6
32 COSM87944274 TP53 skin,NS,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 6
33 COSM87921224 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 17:7673785-7673785 6
34 COSM87898567 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 17:7674215-7674215 6
35 COSM87900980 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 6
36 COSM87947692 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 17:7674193-7674193 6
37 COSM87957813 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 17:7674226-7674226 6
38 COSM87904406 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 6
39 COSM87917387 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 6
40 COSM87932688 TP53 skin,NS,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 6
41 COSM87903307 TP53 skin,NS,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 6
42 COSM87905687 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 6
43 COSM87899661 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 6
44 COSM87908365 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 6
45 COSM87961406 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 6
46 COSM87918616 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 6
47 COSM87897745 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 6
48 COSM87911563 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 6
49 COSM87922049 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 6
50 COSM87898431 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 6

Expression for Basal Cell Carcinoma 1

Search GEO for disease gene expression data for Basal Cell Carcinoma 1.

Pathways for Basal Cell Carcinoma 1

Pathways related to Basal Cell Carcinoma 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.88 RASA1 PTCH1

GO Terms for Basal Cell Carcinoma 1

Sources for Basal Cell Carcinoma 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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