MCID: BSL024
MIFTS: 42

Basal Cell Carcinoma 1

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

Aliases & Classifications for Basal Cell Carcinoma 1

MalaCards integrated aliases for Basal Cell Carcinoma 1:

Name: Basal Cell Carcinoma 1 53
Basal Cell Carcinoma, Susceptibility to, 1 53 13
Basal Cell Carcinoma 71 69
Experimental Organism Basal Cell Carcinoma 69
Non-Syndromic Basal Cell Carcinoma 71
Basal Cell Carcinoma, Multiple 69
Multiple Basal Cell Carcinoma 71
Bcc1 53
Bcc 71

Classifications:



External Ids:

OMIM 53 605462
MeSH 41 D002280
SNOMED-CT via HPO 65 1338007 254701007 275265005

Summaries for Basal Cell Carcinoma 1

OMIM : 53 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 nevus syndrome, and has symptoms including basal cell carcinoma An important gene associated with Basal Cell Carcinoma 1 is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Proteoglycans in cancer. Affiliated tissues include skin, and related phenotype is limbs/digits/tail.

UniProtKB/Swiss-Prot : 71 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

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

Clinical features from OMIM:

605462

Human phenotypes related to Basal Cell Carcinoma 1:

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

MGI Mouse Phenotypes related to Basal Cell Carcinoma 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 PTCH1 SMO PALB2

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 69 / NDF-RT 47 :


Genetic Tests for Basal Cell Carcinoma 1

Anatomical Context for Basal Cell Carcinoma 1

MalaCards organs/tissues related to Basal Cell Carcinoma 1:

38
Skin

Publications for Basal Cell Carcinoma 1

Articles related to Basal Cell Carcinoma 1:

(show top 50) (show all 1840)
# Title Authors Year
1
Erythrocyte Membrane Unsaturated (Mono and Poly) Fatty Acids Profile in Newly Diagnosed Basal Cell Carcinoma Patients. ( 29423386 )
2018
2
Features Causing Confusion between Basal Cell Carcinoma and Squamous Cell Carcinoma in Clinical Diagnosis. ( 29386834 )
2018
3
PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS). ( 29277811 )
2018
4
Optical coherence tomography image processing for in vivo 3-dimensional visualization of basal cell carcinoma. ( 29368446 )
2018
5
Correction to:A Cancer associated fibroblasts (CAFs) are activated in cutaneous basal cell carcinoma and in the peritumoural skin. ( 29382305 )
2018
6
Tumor Architecture and Notch Signaling Modulate Drug Response in Basal Cell Carcinoma. ( 29395868 )
2018
7
An expanded study of long-pulsed 1064a88nm Nd:YAG laser treatment of basal cell carcinoma. ( 29436720 )
2018
8
Basal cell carcinoma of the scrotum: an important but easily overlooked entity. ( 29377295 )
2018
9
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
10
Dermoscopic and reflectance confocal microscopy features of two cases of vulvar basal cell carcinoma. ( 29445582 )
2018
11
Genomic landscape of advanced basal cell carcinoma: Implications for precision treatment with targeted and immune therapies. ( 29399405 )
2018
12
Plaque-Type Syringoma Coexisting With Basal Cell Carcinoma. ( 29419541 )
2018
13
9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient. ( 29057423 )
2018
14
Angiosarcoma following treatment of basal cell carcinoma: a report of two cases. ( 29345300 )
2018
15
Intracranial regression of an advanced basal cell carcinoma using sonidegib and itraconazole after failure with vismodegib. ( 29387745 )
2018
16
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
17
Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome. ( 29381605 )
2018
18
Comparing Topical Treatments forA Basal Cell Carcinoma. ( 29395168 )
2018
19
Molecular Variations in Histologic Subtypes of Basal Cell Carcinoma. ( 28859735 )
2017
20
Risks of different skin tumor combinations after a first melanoma, squamous cell carcinoma and basal cell carcinoma in Dutch population based cohorts: 1989 - 2009. ( 28898461 )
2017
21
Vulvar basal cell carcinoma with adhesion of the labia majora and minora. ( 27917514 )
2017
22
A rare dermoscopic pattern of nodular basal cell carcinoma with amyloid deposition. ( 28087032 )
2017
23
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene. ( 27561271 )
2017
24
Variation in dermoscopic features of basal cell carcinoma as a function of anatomic location and pigmentation status. ( 28886224 )
2017
25
Use of a cotton-tipped applicator for superior clinical diagnosis and biopsy of suspected basal cell carcinoma of the nasal ala. ( 27986150 )
2017
26
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
27
FDA Approval Summary: Sonidegib for Locally Advanced Basal Cell Carcinoma. ( 28073840 )
2017
28
Simultaneous Development of Three Different Neoplasms of Trichilemmoma, Desmoplastic Trichilemmoma and Basal Cell Carcinoma Arising from Nevus Sebaceus. ( 28913303 )
2017
29
Dynamic Thiol/Disulphide Homeostasis in patients with Basal Cell Carcinoma. ( 28067074 )
2017
30
Treatment of superficial basal cell carcinoma by topical photodynamic therapy with fractionated 5-aminolevulinic acid 20% versus two stage topical methylaminolevulinic acid: results of a randomized controlled trial. ( 28886209 )
2017
31
Basal Cell Carcinoma in Erythropoietic Protoporphyria: All About Ultraviolet Light? ( 28903600 )
2017
32
The concerted action of type 2 and type 3 deiodinases regulates the cell cycle and survival of basal cell carcinoma cells. ( 28088877 )
2017
33
Evaluation of the Level of Zinc and Malondialdehyde in Basal Cell Carcinoma. ( 28894712 )
2017
34
Photodynamic Therapy Effective for the Treatment of Actinic Keratosis and Basal Cell Carcinoma in Bullous Pemphigoid Patients. ( 28373119 )
2017
35
Emerging trends in the treatment of advanced basal cell carcinoma. ( 29407368 )
2017
36
Vulvar Basal Cell Carcinoma: Four Case Reports With Immunohistochemical Study. ( 28565920 )
2017
37
Reactive Eccrine Syringofibroadenoma Associated With Basal Cell Carcinoma: A Histologic Mimicker of Fibroepithelioma of Pinkus. ( 28902033 )
2017
38
Ambulatory Photodynamic Therapy for Superficial Basal Cell Carcinoma: An Effective Light Source? ( 28093601 )
2017
39
Small Molecule Inhibitors of the Hedgehog Pathway in the Treatment of Basal Cell Carcinoma of the Skin. ( 28887802 )
2017
40
Complex functional and epithetic rehabilitation after ablation of recurrent retroauricular basal cell carcinoma - a case study. ( 29423354 )
2017
41
Photodynamic therapy with epidermal ablation using fractional CO2 laser for treating superficial basal cell carcinoma: A case series. ( 28647617 )
2017
42
Pulmonary metastases in a patient with an aggressive infiltrative basal cell carcinoma of the scalp. ( 28251897 )
2017
43
Peripheral Ameloblastoma: A Study of 18 Cases and Usage of Ber-EP4 Immunohistochemistry to Rule out a Diagnosis of Intraoral Basal Cell Carcinoma. ( 29247621 )
2017
44
Expression of oncogenic miR-17-92 and tumor suppressive miR-143-145 clusters in basal cell carcinoma and cutaneous squamous cell carcinoma. ( 28187958 )
2017
45
Polyalkylimide and Invasive Growth of Basal Cell Carcinoma of the Skin. ( 28857938 )
2017
46
Superficial basal cell carcinoma: A comparison of superficial only subtype with superficial combined with other subtypes by age, sex and anatomic site in 3150 cases. ( 28493477 )
2017
47
Long-Term Efficacy and Safety of Sonidegib in Patients With Locally Advanced and Metastatic Basal Cell Carcinoma: 30-Month Analysis of the Randomized Phase 2 BOLT Study. ( 28846163 )
2017
48
Microbiopsy Biomarker Profiling in a Superficial Melanoma Resembling a Pigmented Basal Cell Carcinoma. ( 28196220 )
2017
49
Five-Year Results of a Randomized Controlled Trial Comparing Effectiveness of Photodynamic Therapy, Topical Imiquimod, and Topical 5-Fluorouracil in Patients with Superficial Basal Cell Carcinoma. ( 29045820 )
2017
50
Pediatric nevoid basal cell carcinoma syndrome. ( 29360891 )
2017

Variations for Basal Cell Carcinoma 1

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

71
# Symbol AA change Variation ID SNP ID
1 PTCH1 p.Arg1114Trp VAR_007847 rs587776689

ClinVar genetic disease variations for Basal Cell Carcinoma 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PALB2 NM_024675.3(PALB2): c.1451T> A (p.Leu484Ter) single nucleotide variant Pathogenic rs786203714 GRCh38 Chromosome 16, 23635095: 23635095
2 SMO NM_005631.4(SMO): c.1417G> C (p.Asp473His) single nucleotide variant Pathogenic rs17710891 GRCh37 Chromosome 7, 128849189: 128849189

Cosmic variations for Basal Cell Carcinoma 1:

9 (show top 50) (show all 225)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM43635 TP53 skin,NS,carcinoma,basal cell carcinoma c.536A>T p.H179L 22
2 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 22
3 COSM43920 TP53 skin,NS,carcinoma,basal cell carcinoma c.680C>T p.S227F 22
4 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 22
5 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 22
6 COSM45734 TP53 skin,NS,carcinoma,basal cell carcinoma c.622G>T p.D208Y 22
7 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 22
8 COSM43616 TP53 skin,NS,carcinoma,basal cell carcinoma c.704A>G p.N235S 22
9 COSM43596 TP53 skin,NS,carcinoma,basal cell carcinoma c.841G>A p.D281N 22
10 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 22
11 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 22
12 COSM11084 TP53 skin,NS,carcinoma,basal cell carcinoma c.517G>A p.V173M 22
13 COSM45138 TP53 skin,NS,carcinoma,basal cell carcinoma c.853G>C p.E285Q 22
14 COSM43700 TP53 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 22
15 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 22
16 COSM10887 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>G p.P278R 22
17 COSM44241 TP53 skin,NS,carcinoma,basal cell carcinoma c.592G>T p.E198* 22
18 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 22
19 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 22
20 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 22
21 COSM10705 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 22
22 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 22
23 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 22
24 COSM43695 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 22
25 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 22
26 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 22
27 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 22
28 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 22
29 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 22
30 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 22
31 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 22
32 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 22
33 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 22
34 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 22
35 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 22
36 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 22
37 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 22
38 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 22
39 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 22
40 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 22
41 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 22
42 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 22
43 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 22
44 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 22
45 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 22
46 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 22
47 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 22
48 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 22
49 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 22
50 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 22

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

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

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 9.16 PTCH1 SMO
2 endocytic vesicle membrane GO:0030666 8.96 PTCH1 SMO
3 ciliary membrane GO:0060170 8.62 PTCH1 SMO

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.52 PALB2 PTCH1
2 multicellular organism growth GO:0035264 9.51 PALB2 SMO
3 in utero embryonic development GO:0001701 9.5 PALB2 PTCH1 SMO
4 smoothened signaling pathway GO:0007224 9.49 PTCH1 SMO
5 pattern specification process GO:0007389 9.48 PTCH1 SMO
6 heart morphogenesis GO:0003007 9.46 PTCH1 SMO
7 dorsal/ventral pattern formation GO:0009953 9.43 PTCH1 SMO
8 renal system development GO:0072001 9.4 PTCH1 SMO
9 somite development GO:0061053 9.37 PTCH1 SMO
10 mammary gland epithelial cell differentiation GO:0060644 9.26 PTCH1 SMO
11 dorsal/ventral neural tube patterning GO:0021904 9.16 PTCH1 SMO
12 cellular response to cholesterol GO:0071397 8.96 PTCH1 SMO
13 embryonic organ development GO:0048568 8.8 PALB2 PTCH1 SMO

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.62 PTCH1 SMO

Sources for Basal Cell Carcinoma 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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