BCC
MCID: BSL024
MIFTS: 41

Basal Cell Carcinoma 1 (BCC)

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, Susceptibility to, 1 58 13
Basal Cell Carcinoma 76 74
Carcinoma, Basal Cell, Susceptibility to, Type 1 41
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, susceptibility to, 1, is related to nodular basal cell carcinoma and basal cell carcinoma, infundibulocystic. An important gene associated with Basal Cell Carcinoma 1 is PTCH1 (Patched 1). Affiliated tissues include skin, bone and prostate, and related phenotype is basal cell carcinoma.

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 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 377)
# Related Disease Score Top Affiliating Genes
1 nodular basal cell carcinoma 12.7
2 basal cell carcinoma, infundibulocystic 12.7
3 pigmented basal cell carcinoma 12.6
4 metatypical basal cell carcinoma 12.6
5 micronodular basal cell carcinoma 12.6
6 basal cell carcinoma 7 12.5
7 penis basal cell carcinoma 12.5
8 superficial basal cell carcinoma 12.5
9 anal margin basal cell carcinoma 12.5
10 morpheaform basal cell carcinoma 12.5
11 basal cell carcinoma, multiple 12.4
12 vulva basal cell carcinoma 12.4
13 adenoid basal cell carcinoma 12.4
14 cystic basal cell carcinoma 12.4
15 clear cell basal cell carcinoma 12.4
16 sarcomatoid basal cell carcinoma 12.4
17 basal cell carcinoma 5 12.4
18 basal cell nevus syndrome 12.4
19 basal cell carcinoma 2 12.4
20 basal cell carcinoma 3 12.4
21 external ear basal cell carcinoma 12.4
22 vulvar basal cell carcinoma 12.4
23 scrotum basal cell carcinoma 12.4
24 infiltrative basal cell carcinoma 12.4
25 fibroepithelial basal cell carcinoma 12.4
26 bazex syndrome 12.3
27 basal cell carcinoma 4 12.3
28 basal cell carcinoma 6 12.3
29 follicular basal cell carcinoma 12.3
30 signet ring basal cell carcinoma 12.3
31 sebaceous basal cell carcinoma 12.2
32 rombo syndrome 12.1
33 brooke-spiegler syndrome 11.4
34 multiple familial trichoepithelioma 11.4
35 prostate cancer 11.4
36 bap1 tumor predisposition syndrome 11.4
37 adamantinoid basal cell epithelioma 11.3
38 basal cell carcinoma 11.3
39 trichoepithelioma, multiple familial, 1 11.2
40 epidermolysis bullosa simplex, dowling-meara type 11.1
41 prostate cancer, hereditary, 1 11.1
42 prostate cancer, hereditary, 12 11.1
43 prostate cancer, hereditary, 13 11.1
44 prostate cancer, hereditary, 11 11.1
45 prostate cancer, hereditary, 2 11.1
46 clear cell acanthoma 11.1
47 linear porokeratosis 11.1
48 squamous cell carcinoma 10.8
49 melanoma 10.7
50 keratosis 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

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 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, Bone, Prostate, Breast, Lung, Lymph Node, Testes

Publications for Basal Cell Carcinoma 1

Articles related to Basal Cell Carcinoma 1:

(show top 50) (show all 3624)
# Title Authors Year
1
Extensive bony metastases from facial metatypical basal cell carcinoma: a case report. ( 30598320 )
2019
2
Dermoscopic features of acral basal cell carcinoma. ( 30604521 )
2019
3
Targeting tryptophan transport and breakdown in basal cell carcinoma. ( 30604530 )
2019
4
Quantitative survey into value clarification of discussed treatment options among patients treated for basal cell carcinoma. ( 30613956 )
2019
5
Clinical Characteristics of Basal Cell Carcinoma in African Americans: A 10-Year Retrospective Review at a Single Academic Institution. ( 30614839 )
2019
6
Basal cell carcinoma of the vulva: treatment with Mohs micrographic surgery. ( 30618159 )
2019
7
A randomised phase II study evaluating vismodegib as neoadjuvant treatment of basal cell carcinoma preceding Mohs micrographic surgery: results and lessons learned. ( 30628055 )
2019
8
Comparative genomic hybridization analysis of basal cell carcinoma. ( 30629797 )
2019
9
Melanoma Within Basal Cell Carcinoma Nests Discovered During Mohs Micrographic Surgery. ( 30640782 )
2019
10
Basal cell carcinoma of the prostate: A case report and review of the literature. ( 30655983 )
2019
11
Scalp basal cell carcinoma: a different entity? ( 30659714 )
2019
12
SOX2 knockdown inhibits the migration and invasion of basal cell carcinoma cells by targeting the SRPK1-mediated PI3K/AKT signaling pathway. ( 30675221 )
2019
13
Metaplastic basal cell carcinoma developing into syringomatous carcinoma: An enigmatic case report. ( 30697801 )
2019
14
Facial site distribution of basal cell carcinoma in Japanese. ( 30698878 )
2019
15
Mixed cranial neuropathies due to occult perineural invasion of basal cell carcinoma. ( 30705997 )
2019
16
Loss of primary cilia drives switching from Hedgehog to Ras/MAPK pathway in resistant basal cell carcinoma. ( 30707899 )
2019
17
Tissue-sparing properties of Mohs micrographic surgery for infiltrative basal cell carcinoma. ( 30710602 )
2019
18
Extremity nevus count is an independent risk factor for basal cell carcinoma and melanoma, but not squamous cell carcinoma. ( 30713015 )
2019
19
Basal Cell Carcinoma Pathology Requests and Reports Are Lacking Important Information. ( 30719355 )
2019
20
Effect of endostatin on proliferation, invasion and epithelial-mesenchymal transition of basal cell carcinoma cell A431. ( 30720196 )
2019
21
Peritumoral clefting as a key feature in differentiating basal cell carcinoma from trichoblastoma through in-vivo reflectance confocal microscopy. ( 30720895 )
2019
22
Reply to Woltsche N. et al. Managing adverse effects by dose reduction during routine treatment of locally advanced basal cell carcinoma with the hedgehog inhibitor vismodegib: a single center experience. ( 30720897 )
2019
23
Mohs Appropriate Use Criteria for Superficial Basal Cell Carcinoma. ( 30725082 )
2019
24
Mohs Appropriate Use Criteria for Superficial Basal Cell Carcinoma. ( 30725085 )
2019
25
Mohs Appropriate Use Criteria for Superficial Basal Cell Carcinoma. ( 30725088 )
2019
26
Mohs Appropriate Use Criteria for Superficial Basal Cell Carcinoma-Reply. ( 30725098 )
2019
27
Patterns of proliferation and apoptosis in different subtypes of basal cell carcinoma, adjacent epidermis, and recurrent forms. ( 30726478 )
2019
28
PRISModegib: the use of the PRISM test to assess the Health-Related Quality of Life of patients with Locally Advanced Basal Cell Carcinoma undergoing Hedgehog Pathway Inhibitor Therapy. ( 30737996 )
2019
29
Diagnosis and Management of Basal Cell Carcinoma. ( 30741348 )
2019
30
Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients. ( 30754660 )
2019
31
Locally destructive metastatic basal cell carcinoma. ( 30758350 )
2019
32
S2k Guidelines for Cutaneous Basal Cell Carcinoma - Part 2: Treatment, Prevention and Follow-up. ( 30762963 )
2019
33
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
34
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
35
Vulvar basal cell carcinoma: clinical features and treatment outcomes from a tertiary-care centre. ( 30773599 )
2019
36
Nodular Cystic Variant of Basal Cell Carcinoma: Perfect Correlation Between Histopathology and Confocal Microscopy. ( 30775152 )
2019
37
Histopathology of Basal Cell Carcinoma After Treatment With Vismogedib ( 30794363 )
2019
38
High-risk basal cell carcinoma excision in primary care: a retrospective observational study of compliance with NICE guidance. ( 30798290 )
2019
39
Basal Cell Carcinoma: Additional Subtypes and Therapeutic Advances. ( 30802559 )
2019
40
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? ( 30820324 )
2019
41
Can optical coherence tomography improve the management of basal cell carcinoma? ( 30821394 )
2019
42
What is the Prevalence of Undiagnosed Nevoid Basal Cell Carcinoma Syndrome in Children With an Odontogenic Keratocyst? ( 30826393 )
2019
43
Gossypetin Inhibits Solar-UV Induced Cutaneous Basal Cell Carcinoma Through Direct Inhibiting PBK/TOPK Protein Kinase. ( 30827262 )
2019
44
Oncologic outcomes after surgery for locally aggressive basal cell carcinoma of the head and neck. ( 30835833 )
2019
45
'Eternal sunshine of the spotless islands': how dermoscopy may influence confocal microscopy when dealing with squamous cells carcinoma simulating basal cell carcinoma. ( 30851204 )
2019
46
Neurofolicullar hamartoma presenting as a rare adnexal neoplasm in association with basal cell carcinoma. ( 30858950 )
2019
47
Investigation of Interleukin-17 Gene Polymorphisms and Serum Levels in Patients with Basal Cell Carcinoma of the Skin. ( 30864555 )
2019
48
Telomere length, arsenic exposure and risk of basal cell carcinoma of skin. ( 30874287 )
2019
49
Characterisation of resistance mechanisms developed by basal cell carcinoma cells in response to repeated cycles of Photodynamic Therapy. ( 30886381 )
2019
50
Metatypical Basal Cell Carcinoma: A 6-Year Retrospective Study. ( 30888944 )
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

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 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
2 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 0
3 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 0
4 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
5 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
6 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
7 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 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 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 0
15 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 0
16 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 0
17 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 17:7675101-7675101 0
18 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 0
19 COSM10887 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 0
20 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 0
21 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 0
22 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 0
23 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 0
24 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 0
25 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 0
26 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
27 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
28 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 0
29 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 0
30 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 0
31 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 0
32 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 0
33 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 0
34 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 0
35 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 0
36 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 0
37 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 0
38 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 0
39 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 0
40 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 0
41 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 0
42 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 0
43 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
44 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 0
45 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 0
46 COSM44552 TP53 skin,NS,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 0
47 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
48 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 0
49 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 0
50 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 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

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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