BCC7
MCID: BSL034
MIFTS: 25

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 72 13
Basal Cell Carcinoma, Susceptibility to, 7 57 29 6 39
Bcc7 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
basal cell carcinoma 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614740
MeSH 44 D002280
SNOMED-CT via HPO 68 263681008

Summaries for Basal Cell Carcinoma 7

UniProtKB/Swiss-Prot : 72 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 (Updated 05-Apr-2021)
Neoplasia:
basal cell carcinoma, cutaneous

Clinical features from OMIM®:

614740 (Updated 05-Apr-2021)

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:

40
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. 57 6
21946351 2011
2
Interstitial brachytherapy for eyelid carcinoma. Outcome analysis in 60 patients. 61
24424628 2014
3
Expression patterns of α2,3-sialyltransferase I and α2,6-sialyltransferase I in human cutaneous epithelial lesions. 61
23549466 2013
4
Survey of orbital tumors at a comprehensive cancer center in the United States. 61
20824811 2011
5
Epileptic seizures caused by encephalomalasic cysts following radiotherapy: a case report. 61
19829898 2009
6
Skin cancer coverage in a national newspaper: a teachable moment. 61
17605623 2007
7
Prevalence of melanoma clinically resembling seborrheic keratosis: analysis of 9204 cases. 61
12472343 2002
8
[Ultrasound biomicroscopy in eyelid lesions - a clinical study on 30 patients]. 61
11987034 2002
9
Cutaneous malignant melanomas with other coexisting neoplasms: a true association? 61
8435511 1993
10
The use of monoclonal antibody to keratin in human epidermal disease: alterations in immunohistochemical staining pattern. 61
6193207 1983
11
[Large multifocal basal cell carcinoma in a young man]. 61
6355698 1983

Variations for Basal Cell Carcinoma 7

ClinVar genetic disease variations for Basal Cell Carcinoma 7:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
2 TP53 NM_000546.5(TP53):c.559+1G>A SNV Pathogenic 428908 rs1131691042 GRCh37: 17:7578370-7578370
GRCh38: 17:7675052-7675052
3 TP53 NM_000546.5(TP53):c.96+1G>T SNV Pathogenic 482212 rs1131691003 GRCh37: 17:7579699-7579699
GRCh38: 17:7676381-7676381
4 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic 12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
5 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic 12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
6 TP53 NM_000546.5(TP53):c.799C>T (p.Arg267Trp) SNV Likely pathogenic 141764 rs55832599 GRCh37: 17:7577139-7577139
GRCh38: 17:7673821-7673821
7 TP53 NM_000546.5(TP53):c.*1175A>C SNV risk factor 35555 rs78378222 GRCh37: 17:7571752-7571752
GRCh38: 17:7668434-7668434
8 TP53 NM_000546.5(TP53):c.760A>G (p.Ile254Val) SNV Uncertain significance 406605 rs746601313 GRCh37: 17:7577521-7577521
GRCh38: 17:7674203-7674203
9 TP53 NM_000546.6(TP53):c.847C>T (p.Arg283Cys) SNV Uncertain significance 127824 rs149633775 GRCh37: 17:7577091-7577091
GRCh38: 17:7673773-7673773
10 TP53 NM_000546.5(TP53):c.466C>T (p.Arg156Cys) SNV Uncertain significance 127810 rs563378859 GRCh37: 17:7578464-7578464
GRCh38: 17:7675146-7675146
11 TP53 NM_000546.5(TP53):c.461G>A (p.Gly154Asp) SNV Uncertain significance 237950 rs762846821 GRCh37: 17:7578469-7578469
GRCh38: 17:7675151-7675151

Cosmic variations for Basal Cell Carcinoma 7:

9 (show top 50) (show all 3424)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM84510986 ZNF276 skin,NS,carcinoma,basal cell carcinoma c.*940C>T p.? 16:89739186-89739186 3
2 COSM149268805 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 3
3 COSM87274302 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 3
4 COSM87270496 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 3
5 COSM149259613 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 3
6 COSM149268792 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 3
7 COSM87274307 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 3
8 COSM149268800 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 3
9 COSM87273325 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 3
10 COSM149304906 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 3
11 COSM87296537 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 3
12 COSM102023150 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7526C>T p.? 16:72958491-72958491 3
13 COSM102023155 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7920G>A p.? 16:72958885-72958885 3
14 COSM102019420 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.8105C>T p.S2702F 16:72787429-72787429 3
15 COSM149331772 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 3
16 COSM102023144 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.3083G>A p.G1028E 16:72796857-72796857 3
17 COSM102047764 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.8308G>A p.D2770N 16:72787226-72787226 3
18 COSM87286441 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 3
19 COSM102036925 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7190C>T p.? 16:72958155-72958155 3
20 COSM149266372 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 3
21 COSM102022243 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.-23-7097C>T p.? 16:72958062-72958062 3
22 COSM87274293 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 3
23 COSM104882801 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
24 COSM104236272 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
25 COSM101976974 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
26 COSM87040659 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
27 COSM101179498 TSC2 skin,NS,carcinoma,basal cell carcinoma c.1913C>T p.S638F 16:2071897-2071897 3
28 COSM150324396 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
29 COSM101191558 TSC2 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.P241L 16:2058767-2058767 3
30 COSM147706701 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
31 COSM150353664 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
32 COSM151748023 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
33 COSM150576157 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
34 COSM149802478 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
35 COSM148980439 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
36 COSM90415129 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
37 COSM149800636 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
38 COSM148991757 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
39 COSM151753165 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
40 COSM151513825 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
41 COSM151371066 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
42 COSM148982237 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
43 COSM136628294 TSC2 skin,NS,carcinoma,basal cell carcinoma c.902C>T p.P301L 16:2058767-2058767 3
44 COSM110103971 TSC2 skin,NS,carcinoma,basal cell carcinoma c.568T>A p.C190S 16:2056674-2056674 3
45 COSM150583851 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
46 COSM102616914 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
47 COSM136618116 TSC2 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 16:2056674-2056674 3
48 COSM110102044 TSC2 skin,NS,carcinoma,basal cell carcinoma c.1949C>T p.S650F 16:2071897-2071897 3
49 COSM150574866 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
50 COSM102629996 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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