BCC7
MCID: BSL034
MIFTS: 24

Basal Cell Carcinoma 7 (BCC7)

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

Aliases & Classifications for Basal Cell Carcinoma 7

MalaCards integrated aliases for Basal Cell Carcinoma 7:

Name: Basal Cell Carcinoma 7 57 74 13
Basal Cell Carcinoma, Susceptibility to, 7 57 29 6 40
Bcc7 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
basal cell carcinoma 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614740
MeSH 44 D002280

Summaries for Basal Cell Carcinoma 7

UniProtKB/Swiss-Prot : 74 Basal cell carcinoma 7: A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. It 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.

MalaCards based summary : Basal Cell Carcinoma 7, is also known as basal cell carcinoma, susceptibility to, 7. An important gene associated with Basal Cell Carcinoma 7 is TP53 (Tumor Protein P53). Affiliated tissues include skin.

More information from OMIM: 614740

Related Diseases for Basal Cell Carcinoma 7

Symptoms & Phenotypes for Basal Cell Carcinoma 7

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
basal cell carcinoma, cutaneous

Clinical features from OMIM:

614740

Drugs & Therapeutics for Basal Cell Carcinoma 7

Search Clinical Trials , NIH Clinical Center for Basal Cell Carcinoma 7

Genetic Tests for Basal Cell Carcinoma 7

Genetic tests related to Basal Cell Carcinoma 7:

# Genetic test Affiliating Genes
1 Basal Cell Carcinoma, Susceptibility to, 7 29 TP53

Anatomical Context for Basal Cell Carcinoma 7

MalaCards organs/tissues related to Basal Cell Carcinoma 7:

41
Skin

Publications for Basal Cell Carcinoma 7

Articles related to Basal Cell Carcinoma 7:

(show all 11)
# Title Authors PMID Year
1
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. 8 71
21946351 2011
2
Interstitial brachytherapy for eyelid carcinoma. Outcome analysis in 60 patients. 38
24424628 2014
3
Expression patterns of α2,3-sialyltransferase I and α2,6-sialyltransferase I in human cutaneous epithelial lesions. 38
23549466 2013
4
Survey of orbital tumors at a comprehensive cancer center in the United States. 38
20824811 2011
5
Epileptic seizures caused by encephalomalasic cysts following radiotherapy: a case report. 38
19829898 2009
6
Skin cancer coverage in a national newspaper: a teachable moment. 38
17605623 2007
7
Prevalence of melanoma clinically resembling seborrheic keratosis: analysis of 9204 cases. 38
12472343 2002
8
[Ultrasound biomicroscopy in eyelid lesions - a clinical study on 30 patients]. 38
11987034 2002
9
Cutaneous malignant melanomas with other coexisting neoplasms: a true association? 38
8435511 1993
10
The use of monoclonal antibody to keratin in human epidermal disease: alterations in immunohistochemical staining pattern. 38
6193207 1983
11
[Large multifocal basal cell carcinoma in a young man]. 38
6355698 1983

Variations for Basal Cell Carcinoma 7

ClinVar genetic disease variations for Basal Cell Carcinoma 7:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 17:7578406-7578406 17:7675088-7675088
2 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
3 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 17:7577538-7577538 17:7674220-7674220
4 TP53 NM_000546.5(TP53): c.96+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs1131691003 17:7579699-7579699 17:7676381-7676381
5 TP53 NM_000546.5(TP53): c.559+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1131691042 17:7578370-7578370 17:7675052-7675052
6 TP53 NM_000546.5(TP53): c.799C> T (p.Arg267Trp) single nucleotide variant Likely pathogenic rs55832599 17:7577139-7577139 17:7673821-7673821
7 TP53 NM_000546.5(TP53): c.847C> T (p.Arg283Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149633775 17:7577091-7577091 17:7673773-7673773
8 TP53 NM_000546.5(TP53): c.*1175A> C single nucleotide variant Conflicting interpretations of pathogenicity rs78378222 17:7571752-7571752 17:7668434-7668434
9 TP53 NM_000546.5(TP53): c.466C> T (p.Arg156Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs563378859 17:7578464-7578464 17:7675146-7675146
10 TP53 NM_000546.5(TP53): c.760A> G (p.Ile254Val) single nucleotide variant Uncertain significance rs746601313 17:7577521-7577521 17:7674203-7674203
11 TP53 NM_000546.5(TP53): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance rs762846821 17:7578469-7578469 17:7675151-7675151

Cosmic variations for Basal Cell Carcinoma 7:

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

Expression for Basal Cell Carcinoma 7

Search GEO for disease gene expression data for Basal Cell Carcinoma 7.

Pathways for Basal Cell Carcinoma 7

GO Terms for Basal Cell Carcinoma 7

Sources for Basal Cell Carcinoma 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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