MCID: BSL024
MIFTS: 35

Basal Cell Carcinoma 1

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

Aliases & Classifications for Basal Cell Carcinoma 1

MalaCards integrated aliases for Basal Cell Carcinoma 1:

Name: Basal Cell Carcinoma 1 57
Basal Cell Carcinoma, Susceptibility to, 1 57 13
Basal Cell Carcinoma 75 73
Carcinoma, Basal Cell, Susceptibility to, Type 1 40
Experimental Organism Basal Cell Carcinoma 73
Non-Syndromic Basal Cell Carcinoma 75
Basal Cell Carcinoma, Multiple 73
Multiple Basal Cell Carcinoma 75
Bcc1 57
Bcc 75

Classifications:



External Ids:

OMIM 57 605462
MeSH 44 D002280
SNOMED-CT via HPO 69 1338007 254701007 275265005

Summaries for Basal Cell Carcinoma 1

OMIM : 57 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 and basal cell carcinoma, multiple. An important gene associated with Basal Cell Carcinoma 1 is PTCH1 (Patched 1). Affiliated tissues include skin, prostate and bone, and related phenotype is basal cell carcinoma.

UniProtKB/Swiss-Prot : 75 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
Cell Type Benign Neoplasm 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:

# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 30.1 BCC1 PTCH1
2 basal cell carcinoma, multiple 11.8
3 bazex syndrome 11.4
4 basal cell nevus syndrome 11.0

Symptoms & Phenotypes for Basal Cell Carcinoma 1

Clinical features from OMIM:

605462

Human phenotypes related to Basal Cell Carcinoma 1:

32
# Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 32 HP:0002671

Drugs & Therapeutics for Basal Cell Carcinoma 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Efficacy of Photodynamic Therapy in Basal Cell Carcinoma Completed NCT00985829 Phase 1
2 The Role of Melanocyte in Basal Cell Carcinoma Unknown status NCT02576769

Search NIH Clinical Center for Basal Cell Carcinoma 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Basal Cell Carcinoma 1

Anatomical Context for Basal Cell Carcinoma 1

MalaCards organs/tissues related to Basal Cell Carcinoma 1:

41
Skin, Prostate, Bone, Breast, Lung, Smooth Muscle, T Cells

Publications for Basal Cell Carcinoma 1

Articles related to Basal Cell Carcinoma 1:

(show top 50) (show all 1899)
# Title Authors Year
1
Dermoscopic and reflectance confocal microscopy features of two cases of vulvar basal cell carcinoma. ( 29445582 )
2018
2
Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome. ( 29381605 )
2018
3
BRCA1-Associated Protein-1 Tumor Predisposition Syndrome in a Patient With Numerous Basal Cell Carcinomas. ( 29757857 )
2018
4
Basal cell carcinoma and malignant melanoma cutaneous collision tumor. ( 29904313 )
2018
5
Collagen disruption as a marker for basal cell carcinoma in presurgical margin detection. ( 29900551 )
2018
6
Incidence of Basal Cell Carcinoma and Squamous Cell Carcinoma in Patients on Antiprogrammed Cell Death-1 Therapy for Metastatic Melanoma. ( 29939876 )
2018
7
Genital basal cell carcinoma, a different pathogenesis from sun-exposed basal cell carcinoma? A case-control study of 30 cases. ( 29920730 )
2018
8
Cryosurgery + 5% 5-Fluorouracil for Treatment of Superficial Basal Cell Carcinoma and Bowen's Disease [Formula: see text]. ( 29457484 )
2018
9
Infiltrative basal cell carcinoma mimicking tinea corporis. ( 29634889 )
2018
10
Comparing Topical Treatments forA Basal Cell Carcinoma. ( 29395168 )
2018
11
Frontal axial pattern flap combined with hard palate mucosa transplant in the reconstruction of midfacial defects after the excision of huge basal cell carcinoma. ( 29958532 )
2018
12
Accuracy of dermoscopic criteria for the differentiation between superficial basal cell carcinoma and Bowen's disease. ( 29633377 )
2018
13
Plaque-Type Syringoma Coexisting With Basal Cell Carcinoma. ( 29419541 )
2018
14
Comparison of long term cosmetic outcomes for different treatments of superficial basal cell carcinoma. ( 29753062 )
2018
15
Excision of nodular basal cell carcinoma involving the lower eyelid tarsal skin using a grey line-splitting, posterior lamella-sparing technique. ( 29461902 )
2018
16
Basal cell carcinoma in a 17 year-old organ transplant recipient. ( 29962023 )
2018
17
PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS). ( 29277811 )
2018
18
Functional Reconstruction with Latissimus Dorsi Flap following Resection of an Extensive Basal Cell Carcinoma in the Shoulder Region: A Case Report. ( 29896564 )
2018
19
Quantitative Analysis on Ex Vivo Nonlinear Microscopy Images of Basal Cell Carcinoma Samples in Comparison to Healthy Skin. ( 29981012 )
2018
20
Features Causing Confusion between Basal Cell Carcinoma and Squamous Cell Carcinoma in Clinical Diagnosis. ( 29386834 )
2018
21
Genomic landscape of advanced basal cell carcinoma: Implications for precision treatment with targeted and immune therapies. ( 29399405 )
2018
22
Expression profile of the amino acid transporters SLC7A5, SLC7A7, SLC7A8 and the enzyme TDO2 in basal cell carcinoma. ( 29938775 )
2018
23
Optical coherence tomography image processing for in vivo 3-dimensional visualization of basal cell carcinoma. ( 29368446 )
2018
24
Needs and preferences of patients regarding basal cell carcinoma and cutaneous squamous cell carcinoma care: a qualitative focus group study. ( 29927480 )
2018
25
The curious case of a forehead metatypical basal cell carcinoma. ( 29940648 )
2018
26
9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient. ( 29057423 )
2018
27
A randomized, multi-national, non-inferiority, phase III trial to evaluate the safety and efficacy of BF-200 ALA gel versus MAL cream in the treatment of non-aggressive basal cell carcinoma with photodynamic therapy (PDT). ( 29432644 )
2018
28
Erythrocyte Membrane Unsaturated (Mono and Poly) Fatty Acids Profile in Newly Diagnosed Basal Cell Carcinoma Patients. ( 29423386 )
2018
29
Nodular basal cell carcinoma of the face successfully treated with ingenol mebutate 0.015% gel. ( 29785331 )
2018
30
Intracranial regression of an advanced basal cell carcinoma using sonidegib and itraconazole after failure with vismodegib. ( 29387745 )
2018
31
Correction to:A Cancer associated fibroblasts (CAFs) are activated in cutaneous basal cell carcinoma and in the peritumoural skin. ( 29382305 )
2018
32
Application of in vivo reflectance confocal microscopy (RCM) and ex vivo fluorescence confocal microscopy (FCM) in most common subtypes of Basal Cell Carcinoma and correlation with histopathology. ( 29405259 )
2018
33
Laser-assisted photodynamic therapy for superficial basal cell carcinoma and Bowen's Disease: a randomised intra-patient comparison between a continuous and a fractional ablative CO<sub>2</sub> laser mode. ( 29633367 )
2018
34
Tumor Architecture and Notch Signaling Modulate Drug Response in Basal Cell Carcinoma. ( 29395868 )
2018
35
Evaluation of the appropriate surgical margin for pigmented basal cell carcinoma according to the risk factors for recurrence: a single-institute retrospective study in Japan. ( 29729096 )
2018
36
Sonidegib for basal cell carcinoma. ( 29922006 )
2018
37
Basal Cell Carcinoma of the Buttock. ( 29911527 )
2018
38
Solitary plantar basal cell carcinoma. ( 29924227 )
2018
39
Basal cell carcinoma of the scrotum: an important but easily overlooked entity. ( 29377295 )
2018
40
Angiosarcoma following treatment of basal cell carcinoma: a report of two cases. ( 29345300 )
2018
41
CD10, TDAG51, CK20, AR, INSM1, and Nestin Expression in the Differential Diagnosis of Trichoblastoma and Basal Cell Carcinoma. ( 29938548 )
2018
42
Basal Cell Carcinoma Mimicking Desmoplastic Trichoepithelioma: A Case with Correlation of Dermoscopy and Histology. ( 29928202 )
2018
43
Low recurrence rate of head and neck basal cell carcinoma treated with Mohs micrographic surgery: A retrospective study of 1021 cases. ( 29953746 )
2018
44
Diagnostic Accuracy of Immunohistochemical Markers in Differentiation between Basal Cell Carcinoma and Trichoepithelioma in small Biopsy Specimens. ( 29917261 )
2018
45
An expanded study of long-pulsed 1064a88nm Nd:YAG laser treatment of basal cell carcinoma. ( 29436720 )
2018
46
Basal cell carcinoma induced by therapeutic radiation for tinea capitis-clinicopathological study. ( 29464746 )
2018
47
Ophthalmomyiasis in a case of basal cell carcinoma of eyelid. ( 29866693 )
2018
48
Is a single day patient friendly methyl aminolevulinate photodynamic therapy illumination scheme for superficial basal cell carcinoma feasible? A randomized multicenter pilot trial. ( 29862877 )
2018
49
A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome. ( 29544218 )
2018
50
Reevaluating Mohs Surgery Appropriate Use Criteria for Primary Superficial Basal Cell Carcinoma. ( 29516099 )
2018

Variations for Basal Cell Carcinoma 1

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

75
# 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 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 23
2 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 23
3 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 23
4 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 23
5 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 23
6 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 23
7 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 23
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 23
9 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 23
10 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 23
11 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 23
12 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 23
13 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 23
14 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 23
15 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 23
16 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 23
17 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 23
18 COSM45169 TP53 skin,NS,carcinoma,basal cell carcinoma c.326T>C p.F109S 17:7676043-7676043 23
19 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 17:7674193-7674193 23
20 COSM43695 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 17:7674215-7674215 23
21 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 23
22 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 23
23 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 23
24 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 23
25 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 23
26 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 23
27 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 23
28 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 23
29 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 23
30 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 23
31 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 23
32 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 23
33 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 23
34 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 23
35 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 23
36 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 23
37 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 23
38 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 23
39 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 23
40 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 23
41 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 23
42 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 23
43 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 23
44 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 23
45 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 23
46 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 23
47 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 23
48 COSM44552 TP53 skin,NS,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 23
49 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 23
50 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 23

Expression for Basal Cell Carcinoma 1

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

Pathways for Basal Cell Carcinoma 1

GO Terms for Basal Cell Carcinoma 1

Sources for Basal Cell Carcinoma 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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