BCC7
MCID: BSL034
MIFTS: 15

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 58 76 13
Basal Cell Carcinoma, Susceptibility to, 7 58 30 6 41
Bcc7 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 58 614740
MeSH 45 D002280

Summaries for Basal Cell Carcinoma 7

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 614740

Related Diseases for Basal Cell Carcinoma 7

Symptoms & Phenotypes for Basal Cell Carcinoma 7

Symptoms via clinical synopsis from OMIM:

58
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 30 TP53

Anatomical Context for Basal Cell Carcinoma 7

MalaCards organs/tissues related to Basal Cell Carcinoma 7:

42
Skin

Publications for Basal Cell Carcinoma 7

Articles related to Basal Cell Carcinoma 7:

# Title Authors Year
1
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. ( 21946351 )
2011

Variations for Basal Cell Carcinoma 7

ClinVar genetic disease variations for Basal Cell Carcinoma 7:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
2 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
3 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
4 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
5 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
6 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh38 Chromosome 17, 7675088: 7675088
7 TP53 NM_000546.5(TP53): c.*1175A> C single nucleotide variant risk factor rs78378222 GRCh37 Chromosome 17, 7571752: 7571752
8 TP53 NM_000546.5(TP53): c.*1175A> C single nucleotide variant risk factor rs78378222 GRCh38 Chromosome 17, 7668434: 7668434
9 TP53 NM_000546.5(TP53): c.466C> T (p.Arg156Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs563378859 GRCh37 Chromosome 17, 7578464: 7578464
10 TP53 NM_000546.5(TP53): c.466C> T (p.Arg156Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs563378859 GRCh38 Chromosome 17, 7675146: 7675146
11 TP53 NM_000546.5(TP53): c.847C> T (p.Arg283Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149633775 GRCh37 Chromosome 17, 7577091: 7577091
12 TP53 NM_000546.5(TP53): c.847C> T (p.Arg283Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149633775 GRCh38 Chromosome 17, 7673773: 7673773
13 TP53 NM_000546.5(TP53): c.799C> T (p.Arg267Trp) single nucleotide variant Likely pathogenic rs55832599 GRCh37 Chromosome 17, 7577139: 7577139
14 TP53 NM_000546.5(TP53): c.799C> T (p.Arg267Trp) single nucleotide variant Likely pathogenic rs55832599 GRCh38 Chromosome 17, 7673821: 7673821
15 TP53 NM_000546.5(TP53): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance rs762846821 GRCh37 Chromosome 17, 7578469: 7578469
16 TP53 NM_000546.5(TP53): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance rs762846821 GRCh38 Chromosome 17, 7675151: 7675151
17 TP53 NM_000546.5(TP53): c.760A> G (p.Ile254Val) single nucleotide variant Uncertain significance rs746601313 GRCh38 Chromosome 17, 7674203: 7674203
18 TP53 NM_000546.5(TP53): c.760A> G (p.Ile254Val) single nucleotide variant Uncertain significance rs746601313 GRCh37 Chromosome 17, 7577521: 7577521
19 TP53 NM_000546.5(TP53): c.559+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1131691042 GRCh38 Chromosome 17, 7675052: 7675052
20 TP53 NM_000546.5(TP53): c.559+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1131691042 GRCh37 Chromosome 17, 7578370: 7578370
21 TP53 NM_000546.5(TP53): c.96+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs1131691003 GRCh37 Chromosome 17, 7579699: 7579699
22 TP53 NM_000546.5(TP53): c.96+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs1131691003 GRCh38 Chromosome 17, 7676381: 7676381

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 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 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
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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