BCC1
MCID: BSL024
MIFTS: 49

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 58
Basal Cell Carcinoma 76 74
Carcinoma, Basal Cell, Susceptibility to, Type 1 41
Basal Cell Carcinoma, Susceptibility to, 1 58
Experimental Organism Basal Cell Carcinoma 74
Non-Syndromic Basal Cell Carcinoma 76
Basal Cell Carcinoma, Multiple 74
Multiple Basal Cell Carcinoma 76
Bcc1 58
Bcc 76

Classifications:



External Ids:

OMIM 58 605462
MeSH 45 D002280
SNOMED-CT via HPO 70 1338007 254701007 275265005

Summaries for Basal Cell Carcinoma 1

OMIM : 58 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, 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 Aminolevulinic acid and Imiquimod have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and prostate, and related phenotypes are basal cell carcinoma and Decreased shRNA abundance (Z-score < -2)

UniProtKB/Swiss-Prot : 76 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 395)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma, multiple 32.9 PTCH1 RASA1
2 basal cell carcinoma 31.3 PTCH1 RASA1
3 nodular basal cell carcinoma 12.7
4 basal cell carcinoma, infundibulocystic 12.7
5 pigmented basal cell carcinoma 12.6
6 metatypical basal cell carcinoma 12.6
7 micronodular basal cell carcinoma 12.6
8 basal cell carcinoma 7 12.6
9 penis basal cell carcinoma 12.5
10 superficial basal cell carcinoma 12.5
11 anal margin basal cell carcinoma 12.5
12 morpheaform basal cell carcinoma 12.5
13 basal cell nevus syndrome 12.4
14 vulva basal cell carcinoma 12.4
15 adenoid basal cell carcinoma 12.4
16 cystic basal cell carcinoma 12.4
17 clear cell basal cell carcinoma 12.4
18 sarcomatoid basal cell carcinoma 12.4
19 basal cell carcinoma 5 12.4
20 basal cell carcinoma 2 12.4
21 basal cell carcinoma 3 12.4
22 external ear basal cell carcinoma 12.4
23 vulvar basal cell carcinoma 12.4
24 scrotum basal cell carcinoma 12.4
25 infiltrative basal cell carcinoma 12.4
26 fibroepithelial basal cell carcinoma 12.4
27 bazex syndrome 12.3
28 basal cell carcinoma 4 12.3
29 basal cell carcinoma 6 12.3
30 follicular basal cell carcinoma 12.3
31 signet ring basal cell carcinoma 12.3
32 sebaceous basal cell carcinoma 12.2
33 rombo syndrome 12.1
34 brooke-spiegler syndrome 11.4
35 inflammatory linear verrucous epidermal nevus 11.4
36 multiple familial trichoepithelioma 11.4
37 prostate cancer 11.4
38 clear cell acanthoma 11.4
39 bap1 tumor predisposition syndrome 11.4
40 adamantinoid basal cell epithelioma 11.3
41 trichoepithelioma, multiple familial, 1 11.3
42 epidermolysis bullosa simplex, dowling-meara type 11.1
43 prostate cancer, hereditary, 1 11.1
44 prostate cancer, hereditary, 12 11.1
45 prostate cancer, hereditary, 13 11.1
46 prostate cancer, hereditary, 11 11.1
47 prostate cancer, hereditary, 2 11.1
48 linear porokeratosis 11.1
49 squamous cell carcinoma 10.8
50 melanoma 10.7

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:

33
# Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 33 HP:0002671

Clinical features from OMIM:

605462

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.32 RASA1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.32 PTCH1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.32 RASA1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.32 RASA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.32 PTCH1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.32 PTCH1 RASA1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.32 RASA1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.32 PTCH1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.32 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 303)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 106-60-5 137
2
Imiquimod Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 99011-02-6 57469
3
Sirolimus Approved, Investigational Phase 4,Phase 1 53123-88-9 46835353 5284616 6436030
4
Tacrolimus Approved, Investigational Phase 4,Phase 1 104987-11-3 6473866 445643 439492
5
Everolimus Approved Phase 4,Phase 1 159351-69-6 70789204 6442177
6
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
7
Mycophenolic acid Approved Phase 4 24280-93-1 446541
8
Azathioprine Approved Phase 4 446-86-6 2265
9 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
10 Methyl 5-aminolevulinate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Interferon Inducers Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 interferons Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Antiviral Agents Phase 4,Phase 2,Phase 1
17 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Interferon-alpha Phase 4
21 polysaccharide-K Phase 4
22 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
23 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
24 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
25 Calcineurin Inhibitors Phase 4,Phase 1
26 Cyclosporins Phase 4
27
Verteporfin Approved, Investigational Phase 3 129497-78-5
28
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
29
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Early Phase 1 50-18-0, 6055-19-2 2907
30
Triamcinolone Approved, Vet_approved Phase 3,Phase 2 124-94-7 31307
31
Paclitaxel Approved, Vet_approved Phase 3,Phase 2 33069-62-4 36314
32
Docetaxel Approved, Investigational Phase 3,Phase 2,Phase 1 114977-28-5 148124
33
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
34
Epirubicin Approved Phase 2, Phase 3,Phase 1 56420-45-2 41867
35
Capecitabine Approved, Investigational Phase 2, Phase 3,Phase 1 154361-50-9 60953
36
Trastuzumab Approved, Investigational Phase 2, Phase 3,Phase 3,Early Phase 1 180288-69-1 9903
37
Zinc Approved, Investigational Phase 3 7440-66-6 32051
38
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
39
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
40
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
41
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
42
Fluconazole Approved, Investigational Phase 2, Phase 3 86386-73-4 3365
43
Cevimeline Approved Phase 3 107233-08-9 25137844 83898
44
Megestrol acetate Approved, Investigational, Vet_approved Phase 3 595-33-5 11683
45
Histamine Approved, Investigational Phase 3,Not Applicable 51-45-6 774
46
Doxepin Approved, Investigational Phase 3 1668-19-5 667468 667477
47
Diphenhydramine Approved, Investigational Phase 3 147-24-0, 58-73-1 3100
48
Promethazine Approved, Investigational Phase 3 60-87-7 4927
49
Darbepoetin alfa Approved, Investigational Phase 3 209810-58-2, 11096-26-7
50
Anastrozole Approved, Investigational Phase 3,Phase 2 120511-73-1 2187

Interventional clinical trials:

(show top 50) (show all 335)
# Name Status NCT ID Phase Drugs
1 Superficial Basal Cell Carcinoma Treatment With Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage 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 Treatment of Nodular Basal Cell Carcinoma (BCC) With Imiquimod 5% Cream After Curettage Completed NCT00314756 Phase 4 imiquimod
4 Intron-A/Aldara Combination Therapy for Basal Cell Carcinoma (BCC) Completed NCT00581425 Phase 4
5 VISmodegib for ORbital and Periocular Basal Cell Carcinoma Recruiting NCT02436408 Phase 4 Vismodegib
6 Relationship Between Pharmacokinetics and Safety of Vismodegib - OPTIVISMO-1 Recruiting NCT03610022 Phase 4 Treatment with vismodegib
7 Safety and Efficacy Study of Imiquimod 5% Cream Applied 3x Per Week for 8 or 12 Weeks in Low Risk Nodular Basal Cell Carcinoma Completed NCT00204555 Phase 4 Imiquimod
8 Study Evaluating the Effect of Sirolimus on Non-Melanoma Skin Cancer in Kidney Transplant Recipients Completed NCT00129961 Phase 4 sirolimus;cyclosporine or tacrolimus
9 Prevention of Skin Cancer in High Risk Patients After Conversion to a Sirolimus-based Immunosuppressive Protocol Terminated NCT01797315 Phase 4 Sirolimus
10 Periocular Basal Cell Carcinoma (BCC): Permanent vs. Frozen Section Pathological Control Unknown status NCT00663650 Phase 3
11 Open-label Study to Evaluate Clearance of Superficial Basal Cell Carcinoma After Use of Imiquimod 5% Cream Completed NCT00189306 Phase 3 Imiquimod 5% cream
12 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
13 Surgery Versus Combined Treatment With Curettage and Imiquimod for Nodular Basal Cell Carcinoma Active, not recruiting NCT02242929 Phase 3 Imiquimod 5% cream with prior curettage
14 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
15 A Study to Evaluate Effectiveness of Imiquimod 5% Cream in Superficial Basal Cell Carcinoma Completed NCT00189241 Phase 3 imiquimod
16 Photodynamic Therapy (PDT) With Metvix Cream 160 mg/g Versus PDT With Placebo Cream in Patients With Primary Nodular Basal Cell Carcinoma Completed NCT00472108 Phase 3
17 Metvix PDT Versus Cryotherapy in Patients With Primary Superficial Basal Cell Carcinoma Completed NCT00469417 Phase 3
18 Safety and Efficacy Study for the Treatment of Non-Aggressive Basal Cell Carcinoma With Photodynamic Therapy Active, not recruiting NCT02144077 Phase 3 BF-200 ALA;methyl-aminolevulinate
19 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3 verteporfin PDT
20 A Study to Evaluate the Effectiveness of Imiquimod 5% Cream for Basal Cell Carcinoma Recurrence Completed NCT00129519 Phase 3 Imiquimod 5% cream
21 Comparison of Two Schemes of Cryosurgery and Imiquimod Combination Treatment for Basal Cell Carcinoma Completed NCT01212549 Phase 3
22 Metvix PDT in Patients With "High Risk" Basal Cell Carcinoma Completed NCT00473343 Phase 3
23 Topical Imiquimod Compared With Surgery in Treating Patients With Basal Cell Skin Cancer Completed NCT00066872 Phase 3 imiquimod
24 Fractional CO2 Laser Assisted Photodynamic Therapy Completed NCT01260987 Phase 2, Phase 3 Conventional photodynamic therapy;Fractional CO2 laser assisted PDT
25 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 Recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
26 PDT With Metvix 160 mg/g Cream Versus PDT With Placebo Cream in Patients With Primary Nodular Basal Call Carcinoma Completed NCT00472043 Phase 3
27 Topical Green Tea Ointment in Treatment of Superficial Skin Cancer Completed NCT02029352 Phase 2, Phase 3 Sinecatechins 10%;Placebo
28 Aldara for the Treatment of Large and/or Multiple sBCC Completed NCT00189280 Phase 3 Imiquimod
29 Prevention of UV-induced Carcinogenic Skin Alterations in Immunosuppressed Solid Organ Transplanted Patients Terminated NCT01532453 Phase 3
30 Eflornithine to Prevent Skin Cancer in Patients With Previously Treated Early Stage Skin Cancer Completed NCT00005884 Phase 3 eflornithine
31 Radiotherapy or Imiquimod in Complex Lentigo Maligna Recruiting NCT02394132 Phase 3 Imiquimod
32 Docetaxel and Cyclophosphamide Compared to Anthracycline-Based Chemotherapy in Treating Women With HER2-Negative Breast Cancer Active, not recruiting NCT01547741 Phase 3 Doxorubicin;Cyclophosphamide;Docetaxel;Paclitaxel
33 Determine the Efficacy of Topical Tretinoin Cream for the Prevention of Nonmelanoma Skin Cancer Completed NCT00007631 Phase 3 Tretinoin 0.1% cream or placebo
34 A Randomized Controlled Trial of HER-2 Positive Breast Cancer Patients Treated With Lapatinib vs Herceptin Recruiting NCT03085368 Phase 2, Phase 3 lapatinib/herceptin
35 Primary Prevention Trial of the Health Effects of Antioxidant Vitamins and Minerals. Completed NCT00272428 Phase 3
36 Doxorubicin Hydrochloride and Cyclophosphamide Followed by Paclitaxel With or Without Carboplatin in Treating Patients With Triple-Negative Breast Cancer Recruiting NCT02488967 Phase 3 Carboplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Paclitaxel
37 Tykerb Evaluation After Chemotherapy (TEACH): Lapatinib Versus Placebo In Women With Early-Stage Breast Cancer Completed NCT00374322 Phase 3 lapatinib
38 PDT With Metvix® 160 mg/g Cream in Organ Transplant Recipients With Non-melanoma Skin Cancer Completed NCT00472459 Phase 3
39 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
40 Acupuncture or Standard Therapy in Treating Pain and Dysfunction in Patients Who Have Undergone Neck Surgery for Head and Neck Cancer Completed NCT00090337 Phase 3
41 Fluconazole in Preventing Mucositis in Patients Undergoing Radiation Therapy for Head and Neck Cancer Completed NCT00002533 Phase 2, Phase 3 fluconazole
42 Cevimeline in Treating Patients With Dry Mouth Caused by Radiation Therapy for Head and Neck Cancer Completed NCT00017511 Phase 3 cevimeline hydrochloride
43 Megestrol to Limit Weight Loss and Improve Quality of Life in Treating Patients With Head and Neck Cancer Completed NCT00006799 Phase 3 megestrol acetate
44 Docetaxel and St. John's Wort in Treating Patients With Solid Tumors That Cannot Be Removed By Surgery Withdrawn NCT00041171 Phase 3 Hypericum perforatum;docetaxel
45 Doxepin Hydrochloride in Treating Oral Mucositis Pain in Patients With Head and Neck Cancer Undergoing Radiation Therapy With or Without Chemotherapy Completed NCT01156142 Phase 3 doxepin hydrochloride
46 Darbepoetin Alfa in Patients With Anemic Low or Intermediate-1 Risk Myelodysplastic Syndrome (MDS) Completed NCT01362140 Phase 3 Darbepoetin alfa;Placebo
47 Anastrozole or Tamoxifen in Treating Postmenopausal Women With Ductal Carcinoma in Situ Who Are Undergoing Lumpectomy and Radiation Therapy Completed NCT00053898 Phase 3 anastrozole;tamoxifen citrate
48 Radiation Therapy With or Without Trastuzumab in Treating Women With Ductal Carcinoma In Situ Who Have Undergone Lumpectomy Active, not recruiting NCT00769379 Phase 3
49 Treatment of Basal Cell Carcinomas With Methyl Aminolevulinate and Daylight Unknown status NCT01349361 Phase 2
50 Photodynamic Therapy Using Aminolevulinic Acid in Treating Patients With Skin Cancer Unknown status NCT00747903 Phase 2 aminolevulinic acid hydrochloride

Search NIH Clinical Center for Basal Cell Carcinoma 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Basal Cell Carcinoma 1

Anatomical Context for Basal Cell Carcinoma 1

MalaCards organs/tissues related to Basal Cell Carcinoma 1:

42
Skin, Breast, Prostate, Kidney, Lung, Bone, Brain

Publications for Basal Cell Carcinoma 1

Articles related to Basal Cell Carcinoma 1:

(show top 50) (show all 3655)
# Title Authors Year
1
Multiple adenoid basal cell carcinoma: An uncommon presentation. ( 30971535 )
2019
2
Locally destructive metastatic basal cell carcinoma. ( 30758350 )
2019
3
S2k Guidelines for Cutaneous Basal Cell Carcinoma - Part 2: Treatment, Prevention and Follow-up. ( 30762963 )
2019
4
Successful Utilization of Optical Coherence Tomography as a Non-Invasive, Bedside Imaging Technique To Identify Residual Nodular Basal Cell Carcinoma at Well-Healed and Clinically Unidentifiable Biopsy Site. ( 30771419 )
2019
5
Live remote control of an in vivo reflectance confocal microscope allows diagnosis of basal cell carcinoma at the bedside on a patient 2,500 miles away: A novel tele-RCM approach. ( 30771424 )
2019
6
Vulvar basal cell carcinoma: clinical features and treatment outcomes from a tertiary-care centre. ( 30773599 )
2019
7
Nodular Cystic Variant of Basal Cell Carcinoma: Perfect Correlation Between Histopathology and Confocal Microscopy. ( 30775152 )
2019
8
Histopathology of Basal Cell Carcinoma After Treatment With Vismogedib ( 30794363 )
2019
9
High-risk basal cell carcinoma excision in primary care: a retrospective observational study of compliance with NICE guidance. ( 30798290 )
2019
10
Basal Cell Carcinoma: Additional Subtypes and Therapeutic Advances. ( 30802559 )
2019
11
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? ( 30820324 )
2019
12
Can optical coherence tomography improve the management of basal cell carcinoma? ( 30821394 )
2019
13
What is the Prevalence of Undiagnosed Nevoid Basal Cell Carcinoma Syndrome in Children With an Odontogenic Keratocyst? ( 30826393 )
2019
14
Gossypetin Inhibits Solar-UV Induced Cutaneous Basal Cell Carcinoma Through Direct Inhibiting PBK/TOPK Protein Kinase. ( 30827262 )
2019
15
Oncologic outcomes after surgery for locally aggressive basal cell carcinoma of the head and neck. ( 30835833 )
2019
16
'Eternal sunshine of the spotless islands': how dermoscopy may influence confocal microscopy when dealing with squamous cells carcinoma simulating basal cell carcinoma. ( 30851204 )
2019
17
Neurofolicullar hamartoma presenting as a rare adnexal neoplasm in association with basal cell carcinoma. ( 30858950 )
2019
18
Investigation of Interleukin-17 Gene Polymorphisms and Serum Levels in Patients with Basal Cell Carcinoma of the Skin. ( 30864555 )
2019
19
Telomere length, arsenic exposure and risk of basal cell carcinoma of skin. ( 30874287 )
2019
20
Characterisation of resistance mechanisms developed by basal cell carcinoma cells in response to repeated cycles of Photodynamic Therapy. ( 30886381 )
2019
21
Metatypical Basal Cell Carcinoma: A 6-Year Retrospective Study. ( 30888944 )
2019
22
Single center evidence for the treatment of basal cell carcinoma of the head and neck. ( 30889158 )
2019
23
Vismodegib for giant, locally advanced, basal cell carcinoma and its complex position in clinical practice. ( 30891477 )
2019
24
Genes or environment: what counts most in basal cell carcinoma? ( 30891847 )
2019
25
Basal Cell Carcinoma Associated with Secondary Localized Cutaneous Amyloid Deposits: Case Report and Review. ( 30899630 )
2019
26
Ultrasound Diagnosis of Infiltrative Versus Noninfiltrative Subtypes of Cutaneous Basal Cell Carcinoma. ( 30903702 )
2019
27
Genome-wide association study in irradiated childhood cancer survivors identifies HTR2A for subsequent basal cell carcinoma. ( 30910758 )
2019
28
Silibinin inhibits ultraviolet B radiation-induced mast cells recruitment and bone morphogenetic protein 2 expression in the skin at early stages in Ptch(+/-) mouse model of basal cell carcinoma. ( 30912211 )
2019
29
TREATMENT OF SUPERFICIAL BASAL CELL CARCINOMA WITH PHOTODYNAMIC THERAPY. OBSERVATIONAL STUDY IN 22 PATIENTS WITH 5-AMINOLAEVULINIC ACID AND METHYL AMINOLAEVULINATE. ( 30914392 )
2019
30
Sunscreen May Prevent the Development of Basal Cell Carcinoma in Individuals with Basal Cell Carcinoma Nevus Syndrome (BCCNS): A Retrospective Survey Study. ( 30928468 )
2019
31
Commentary on Clinical Characteristics of Basal Cell Carcinoma in African Americans. ( 30939518 )
2019
32
Vascular patterns in basal cell carcinoma: Dermoscopic, confocal and histopathological perspectives. ( 30944604 )
2019
33
Treatment of the facial basal cell carcinoma with the use of photodynamic therapy: A case report. ( 30951626 )
2019
34
Upregulation of SNAI2 and SOX9 mRNA versus downregulation of eight other EMT/stemness related genes in Basal Cell Carcinoma. ( 30972730 )
2019
35
Giant basal cell carcinoma: clinical-histological characteristics of 115 cases. ( 30972736 )
2019
36
Health-related quality of life associated with immunocryosurgery, a minimally invasive modality, for cervicofacial basal cell carcinoma. ( 30973336 )
2019
37
Complete healing of basal cell carcinoma under bendamustine and brentuximab vedotin therapy in a patient with cutaneous lymphoma. ( 30977947 )
2019
38
A Retrospective Study of the Diagnostic Accuracy of In Vivo Reflectance Confocal Microscopy for Basal Cell Carcinoma Diagnosis and Subtyping. ( 30987174 )
2019
39
Depth of Invasion of Aggressive and Nonaggressive Basal Cell Carcinoma. ( 30988868 )
2019
40
Basal Cell Carcinoma on a Nevus Sebaceous of Jadassohn: A Case Report. ( 30988872 )
2019
41
Variance of Basal Cell Carcinoma Subtype Reporting by Practice Setting. ( 30994878 )
2019
42
Synchronous non-collision melanoma and basal cell carcinoma arising from chronic lymphedema: a case report and review of literature. ( 30997011 )
2019
43
A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome. ( 30997576 )
2019
44
Correction to: Long-term safety and efficacy of vismodegib in patients with advanced basal cell carcinoma: final update of the pivotal ERIVANCE BCC study. ( 30999949 )
2019
45
Single visit PDT for basal cell carcinoma - a new therapeutic protocol. ( 31002888 )
2019
46
Neurofibromatosis Type 1 - Association with Breast Cancer, Basal Cell Carcinoma of the Skin, and Low-Grade Peripheral Nerve Sheath Sarcoma: Case Report and Literature Review. ( 31011321 )
2019
47
Recognizing Basal Cell Carcinoma on Smartphone-Captured Digital Histopathology Images with Deep Neural Network. ( 31017653 )
2019
48
The use of black salve for self-treatment of Basal Cell Carcinoma. ( 31017683 )
2019
49
Biomarkers of basal cell carcinoma resistance to methyl-aminolevulinate photodynamic therapy. ( 31017970 )
2019
50
Face and Scalp Basal Cell Carcinoma Treatment: A Review of the Literature. ( 31032787 )
2019

Variations for Basal Cell Carcinoma 1

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

76
# Symbol AA change Variation ID SNP ID
1 PTCH1 p.Arg1114Trp VAR_007847 rs587776689

ClinVar genetic disease variations for Basal Cell Carcinoma 1:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTCH1 NM_000264.4(PTCH1): c.3919C> T (p.Pro1307Ser) single nucleotide variant Uncertain significance rs574880967 GRCh37 Chromosome 9, 98209619: 98209619
2 PTCH1 NM_000264.4(PTCH1): c.3919C> T (p.Pro1307Ser) single nucleotide variant Uncertain significance rs574880967 GRCh38 Chromosome 9, 95447337: 95447337
3 PTCH1 NM_000264.4(PTCH1): c.4162G> A (p.Gly1388Arg) single nucleotide variant Uncertain significance rs587778631 GRCh37 Chromosome 9, 98209376: 98209376
4 PTCH1 NM_000264.4(PTCH1): c.4162G> A (p.Gly1388Arg) single nucleotide variant Uncertain significance rs587778631 GRCh38 Chromosome 9, 95447094: 95447094
5 PTCH1 NM_000264.4(PTCH1): c.4051A> G (p.Asn1351Asp) single nucleotide variant Uncertain significance rs786204103 GRCh37 Chromosome 9, 98209487: 98209487
6 PTCH1 NM_000264.4(PTCH1): c.4051A> G (p.Asn1351Asp) single nucleotide variant Uncertain significance rs786204103 GRCh38 Chromosome 9, 95447205: 95447205
7 PTCH1 NM_000264.4(PTCH1): c.2440A> C (p.Asn814His) single nucleotide variant Uncertain significance rs754623561 GRCh37 Chromosome 9, 98229518: 98229518
8 PTCH1 NM_000264.4(PTCH1): c.2440A> C (p.Asn814His) single nucleotide variant Uncertain significance rs754623561 GRCh38 Chromosome 9, 95467236: 95467236
9 PTCH1 NM_000264.4(PTCH1): c.37C> G (p.Arg13Gly) single nucleotide variant Uncertain significance rs779791579 GRCh37 Chromosome 9, 98270607: 98270607
10 PTCH1 NM_000264.4(PTCH1): c.37C> G (p.Arg13Gly) single nucleotide variant Uncertain significance rs779791579 GRCh38 Chromosome 9, 95508325: 95508325
11 RASA1 NM_002890.2(RASA1): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic rs863223718 GRCh37 Chromosome 5, 86672329: 86672329
12 RASA1 NM_002890.2(RASA1): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic rs863223718 GRCh38 Chromosome 5, 87376512: 87376512
13 PTCH1 NM_000264.4(PTCH1): c.2635G> A (p.Asp879Asn) single nucleotide variant Uncertain significance rs750373573 GRCh37 Chromosome 9, 98224206: 98224206
14 PTCH1 NM_000264.4(PTCH1): c.2635G> A (p.Asp879Asn) single nucleotide variant Uncertain significance rs750373573 GRCh38 Chromosome 9, 95461924: 95461924
15 PTCH1 NM_000264.4(PTCH1): c.4043A> G (p.Asn1348Ser) single nucleotide variant Uncertain significance rs371943557 GRCh37 Chromosome 9, 98209495: 98209495
16 PTCH1 NM_000264.4(PTCH1): c.4043A> G (p.Asn1348Ser) single nucleotide variant Uncertain significance rs371943557 GRCh38 Chromosome 9, 95447213: 95447213
17 PTCH1 NM_000264.4(PTCH1): c.2671G> A (p.Gly891Ser) single nucleotide variant Uncertain significance rs570091335 GRCh37 Chromosome 9, 98224170: 98224170
18 PTCH1 NM_000264.4(PTCH1): c.2671G> A (p.Gly891Ser) single nucleotide variant Uncertain significance rs570091335 GRCh38 Chromosome 9, 95461888: 95461888
19 PTCH1 NM_000264.4(PTCH1): c.1989G> C (p.Gln663His) single nucleotide variant Uncertain significance rs753002023 GRCh37 Chromosome 9, 98231294: 98231294
20 PTCH1 NM_000264.4(PTCH1): c.1989G> C (p.Gln663His) single nucleotide variant Uncertain significance rs753002023 GRCh38 Chromosome 9, 95469012: 95469012
21 PTCH1 NM_000264.4(PTCH1): c.181G> A (p.Ala61Thr) single nucleotide variant Uncertain significance rs150069331 GRCh37 Chromosome 9, 98270463: 98270463
22 PTCH1 NM_000264.4(PTCH1): c.181G> A (p.Ala61Thr) single nucleotide variant Uncertain significance rs150069331 GRCh38 Chromosome 9, 95508181: 95508181
23 PTCH1 NM_000264.4(PTCH1): c.1138G> A (p.Glu380Lys) single nucleotide variant Uncertain significance rs772903899 GRCh37 Chromosome 9, 98241359: 98241359
24 PTCH1 NM_000264.4(PTCH1): c.1138G> A (p.Glu380Lys) single nucleotide variant Uncertain significance rs772903899 GRCh38 Chromosome 9, 95479077: 95479077
25 PTCH1 NM_000264.4(PTCH1): c.4024C> T (p.Arg1342Cys) single nucleotide variant Uncertain significance rs781539921 GRCh37 Chromosome 9, 98209514: 98209514
26 PTCH1 NM_000264.4(PTCH1): c.4024C> T (p.Arg1342Cys) single nucleotide variant Uncertain significance rs781539921 GRCh38 Chromosome 9, 95447232: 95447232
27 PTCH1 NM_000264.4(PTCH1): c.3734A> G (p.Gln1245Arg) single nucleotide variant Uncertain significance rs767792734 GRCh37 Chromosome 9, 98211421: 98211421
28 PTCH1 NM_000264.4(PTCH1): c.3734A> G (p.Gln1245Arg) single nucleotide variant Uncertain significance rs767792734 GRCh38 Chromosome 9, 95449139: 95449139
29 PTCH2 NM_003738.4(PTCH2): c.3347C> T (p.Pro1116Leu) single nucleotide variant Uncertain significance rs539161089 GRCh37 Chromosome 1, 45288751: 45288751
30 PTCH2 NM_003738.4(PTCH2): c.3347C> T (p.Pro1116Leu) single nucleotide variant Uncertain significance rs539161089 GRCh38 Chromosome 1, 44823079: 44823079
31 PTCH2 NM_003738.4(PTCH2): c.19C> G (p.Leu7Val) single nucleotide variant Uncertain significance rs1030456781 GRCh37 Chromosome 1, 45308586: 45308586
32 PTCH2 NM_003738.4(PTCH2): c.19C> G (p.Leu7Val) single nucleotide variant Uncertain significance rs1030456781 GRCh38 Chromosome 1, 44842914: 44842914
33 RASA1 NM_002890.2(RASA1): c.656C> G (p.Ser219Ter) single nucleotide variant Pathogenic rs1554044823 GRCh37 Chromosome 5, 86627281: 86627281
34 RASA1 NM_002890.2(RASA1): c.656C> G (p.Ser219Ter) single nucleotide variant Pathogenic rs1554044823 GRCh38 Chromosome 5, 87331464: 87331464
35 PTCH1 NM_000264.4(PTCH1): c.3575G> A (p.Arg1192His) single nucleotide variant Uncertain significance rs762040036 GRCh38 Chromosome 9, 95449298: 95449298
36 PTCH1 NM_000264.4(PTCH1): c.3575G> A (p.Arg1192His) single nucleotide variant Uncertain significance rs762040036 GRCh37 Chromosome 9, 98211580: 98211580
37 PTCH1 NM_000264.4(PTCH1): c.412C> T (p.Arg138Cys) single nucleotide variant Uncertain significance rs139535966 GRCh38 Chromosome 9, 95485857: 95485857
38 PTCH1 NM_000264.4(PTCH1): c.412C> T (p.Arg138Cys) single nucleotide variant Uncertain significance rs139535966 GRCh37 Chromosome 9, 98248139: 98248139
39 PTCH2 NM_003738.4(PTCH2): c.565C> G (p.Leu189Val) single nucleotide variant Uncertain significance rs747885797 GRCh38 Chromosome 1, 44831758: 44831758
40 PTCH2 NM_003738.4(PTCH2): c.565C> G (p.Leu189Val) single nucleotide variant Uncertain significance rs747885797 GRCh37 Chromosome 1, 45297430: 45297430
41 PTCH1 NM_000264.4(PTCH1): c.3908G> T (p.Arg1303Leu) single nucleotide variant Uncertain significance rs779365332 GRCh37 Chromosome 9, 98209630: 98209630
42 PTCH1 NM_000264.4(PTCH1): c.3908G> T (p.Arg1303Leu) single nucleotide variant Uncertain significance rs779365332 GRCh38 Chromosome 9, 95447348: 95447348
43 PTCH1 NM_000264.4(PTCH1): c.901G> A (p.Asp301Asn) single nucleotide variant Uncertain significance rs767601899 GRCh37 Chromosome 9, 98242716: 98242716
44 PTCH1 NM_000264.4(PTCH1): c.901G> A (p.Asp301Asn) single nucleotide variant Uncertain significance rs767601899 GRCh38 Chromosome 9, 95480434: 95480434
45 PTCH1 NM_000264.4(PTCH1): c.2287G> T (p.Val763Phe) single nucleotide variant Uncertain significance rs544963328 GRCh38 Chromosome 9, 95467389: 95467389
46 PTCH1 NM_000264.4(PTCH1): c.2287G> T (p.Val763Phe) single nucleotide variant Uncertain significance rs544963328 GRCh37 Chromosome 9, 98229671: 98229671
47 PTCH2 NM_003738.4(PTCH2): c.109C> T (p.Arg37Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 45307675: 45307675
48 PTCH2 NM_003738.4(PTCH2): c.109C> T (p.Arg37Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 44842003: 44842003
49 PTCH1 NM_000264.4(PTCH1): c.4138G> A (p.Ala1380Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 98209400: 98209400
50 PTCH1 NM_000264.4(PTCH1): c.4138G> A (p.Ala1380Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 95447118: 95447118

Cosmic variations for Basal Cell Carcinoma 1:

9 (show top 50) (show all 687)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 0
2 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
3 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
4 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
5 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 0
6 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
7 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 0
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 0
9 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 0
10 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 0
11 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 0
12 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 0
13 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 0
14 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 0
15 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 0
16 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 0
17 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
18 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 0
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 0
20 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 0
21 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 0
22 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 0
23 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 0
24 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
25 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
26 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 0
27 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 0
28 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 0
29 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 0
30 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 0
31 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 0
32 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 0
33 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 0
34 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 0
35 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 0
36 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 0
37 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 0
38 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 0
39 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 0
40 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
41 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 0
42 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 0
43 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 0
44 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
45 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 0
46 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 0
47 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 0
48 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 0
49 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 0
50 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 17:7675232-7675232 0

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 PTCH1 RASA1

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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