MCID: BSL011
MIFTS: 26

Basal Cell Carcinoma, Multiple

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

Aliases & Classifications for Basal Cell Carcinoma, Multiple

MalaCards integrated aliases for Basal Cell Carcinoma, Multiple:

Name: Basal Cell Carcinoma, Multiple 20 54 6 70
Multiple Basal Cell Carcinoma 20

Classifications:



External Ids:

UMLS 70 C1854245

Summaries for Basal Cell Carcinoma, Multiple

MalaCards based summary : Basal Cell Carcinoma, Multiple, also known as multiple basal cell carcinoma, is related to basal cell nevus syndrome and basal cell carcinoma 1. An important gene associated with Basal Cell Carcinoma, Multiple is PTCH1 (Patched 1), and among its related pathways/superpathways is Axon guidance. The drugs Verteporfin and Photosensitizing Agents have been mentioned in the context of this disorder.

Related Diseases for Basal Cell Carcinoma, Multiple

Graphical network of the top 20 diseases related to Basal Cell Carcinoma, Multiple:



Diseases related to Basal Cell Carcinoma, Multiple

Symptoms & Phenotypes for Basal Cell Carcinoma, Multiple

Drugs & Therapeutics for Basal Cell Carcinoma, Multiple

Drugs for Basal Cell Carcinoma, Multiple (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Photosensitizing Agents Phase 3
3 Dermatologic Agents Phase 3
4
Aminolevulinic acid Approved Phase 2 106-60-5 137
5 Pharmaceutical Solutions Phase 2
6
Acitretin Approved 55079-83-9 6437841 5284513

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Placebo-Controlled, Masked, Multicenter Phase III Study Of Photodynamic Therapy With Verteporfin For Injection (VFI) For The Treatment Of Multiple Basal Cell Carcinoma Terminated NCT00049959 Phase 3 verteporfin PDT
2 A Randomized, Double-blinded, Regimen-controlled, Phase II, Multicenter Study to Assess the Efficacy and Safety of Two Different Vismodegib Regimens in Patients With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
3 A Phase II Randomized, Open Label Trial Comparing the Effects of Intermittent Vismodegib Versus PDT on the Maintenance of Benefit Following 7 Months of Continuous Vismodegib Treatment in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
4 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Completed NCT02639117 Phase 1 Vismodegib
5 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660

Search NIH Clinical Center for Basal Cell Carcinoma, Multiple

Genetic Tests for Basal Cell Carcinoma, Multiple

Anatomical Context for Basal Cell Carcinoma, Multiple

Publications for Basal Cell Carcinoma, Multiple

Articles related to Basal Cell Carcinoma, Multiple:

(show top 50) (show all 70)
# Title Authors PMID Year
1
[Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years]. 54 61
17492539 2007
2
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. 54 61
15712338 2005
3
A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma. 61 54
12604725 2003
4
Truncal tumor site is associated with high risk of multiple basal cell carcinoma and is influenced by glutathione S-transferase, GSTT1, and cytochrome P450, CYP1A1 genotypes, and their interaction. 54 61
9077484 1997
5
Eight years of experience with vismodegib for advanced and multiple basal cell carcinoma patients in the Netherlands: a retrospective cohort study. 61
33462360 2021
6
5-aminolevulinic acid photodynamic therapy and excision surgery for nevoid basal cell carcinoma syndrome with multiple basal cell carcinomas and PTCH1 mutation. 61
32835883 2020
7
Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series. 61
33456241 2020
8
Submental and Anterior Neck Originated Full-Thickness Skin Grafts for Periocular Procedures. 61
31743277 2020
9
A clinical review of reconstructive techniques for patients with multiple skin cancers on the face. 61
30282429 2018
10
Multiple Basal Cell Carcinoma Arising in a Verrucous Epidermal Naevus: Clinical, Histological and Therapeutic Observations. 61
28759100 2018
11
Correlates of multiple basal cell carcinoma in a retrospective cohort study: Sex, histologic subtypes, and anatomic distribution. 61
28392289 2017
12
Confocal and dermoscopic features of basal cell carcinoma in Gorlin-Goltz syndrome: A case report. 61
26768321 2017
13
The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study. 61
26220252 2016
14
Treatment of multiple unresectable basal cell carcinomas from Gorlin-Goltz syndrome: a case report. 61
25750342 2015
15
Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation. 61
25117323 2014
16
Metastatic Basal cell carcinoma accompanying gorlin syndrome. 61
25506011 2014
17
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci. 61
24124115 2013
18
Familial Multiple Basal Cell Carcinoma (Gorlin's Syndrome): A Case Report of a Father and Son. 61
24249904 2013
19
Treatment of Gorlin syndrome (nevoid basal cell carcinoma syndrome) with methylaminolevulinate photodynamic therapy in seven patients, including two children: interest of tumescent anesthesia for pain control in children. 61
22500823 2013
20
Multiple metastatic basal cell carcinoma with concurrent metastatic pleomorphic sarcoma in chronic lymphedema area--case report. 61
23197211 2012
21
Oral diffuse B-cell non-Hodgkin's lymphoma associated to Gorlin-Goltz syndrome: a case report with one year follow-up. 61
21623100 2011
22
Cutaneous cancers in an interventional cardiologist: a cautionary tale. 61
21114530 2011
23
Porokeratosis of Mibelli: Successful treatment with 5 percent topical imiquimod and topical 5 percent 5-fluorouracil. 61
21199636 2010
24
Risk factors for single and multiple basal cell carcinomas. 61
20713815 2010
25
Simultaneous treatment of multiple basal cell carcinoma lesions. 61
19029050 2008
26
Multiple hypersonographic spots in basal cell carcinoma. 61
17903154 2007
27
Optimizing meso-tetra-hydroxyphenyl-chlorin-mediated photodynamic therapy for basal cell carcinoma. 61
16984216 2006
28
Impaired removal of 8-hydroxydeoxyguanosine induced by UVB radiation in naevoid basal cell carcinoma syndrome cells. 54
16280022 2005
29
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. 54
15690381 2005
30
Long-term toxic effects of radiations: sarcomatoid carcinoma and multiple basal cell carcinoma of the limbs in chronic radiodermatitis. 61
15803869 2005
31
Merkel cell carcinoma and multiple basal cell carcinoma in an African albino woman with HIV infection. 61
15544700 2004
32
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. 54
15545745 2004
33
Onset of multiple basal cell carcinoma 60 years after X-ray treatment for tinea capitis. 61
15096161 2004
34
Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy. 61
14726854 2004
35
Effects of chlorin-mediated photodynamic therapy combined with fluoropyrimidines in vitro and in a patient. 61
12647016 2003
36
Novel mutations in the PATCHED gene in basal cell nevus syndrome. 54
12175781 2002
37
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. 54
11896785 2002
38
[Experience with glyciphonic ointment therapy for primary multiple basal cell carcinoma of the skin]. 61
12530271 2002
39
[Gorlin-Goltz syndrome]. 54
11744885 2001
40
Two male patients with nevoid basal cell carcinoma syndrome from Turkey. 61
11765170 2001
41
PTCH mutations in squamous cell carcinoma of the skin. 61
11286632 2001
42
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. 54
11277394 2001
43
Nonsyndromic type of hereditary multiple basal cell carcinoma. 61
11078568 2000
44
Multiple basal cell carcinomas and malignant melanoma following radiotherapy for ankylosing spondylitis. 61
11012589 2000
45
[Clinico-epidemiologic characteristics of superficial multiple basal cell carcinoma at the Dermatovenereology Clinic in Novi Sad 1986-1996]. 61
10352507 1999
46
Multiple basal cell carcinoma developing two years after 60Co irradiation. 61
9649688 1998
47
Multiple basal cell carcinoma. A clinical evaluation of risk factors. 61
9534891 1998
48
Three cases of multiple basal cell carcinoma arising in port-wine stains previously treated with thorium X. 61
8977700 1996
49
[Retinoids in chemoprevention of tumors of the skin and mucous membranes. Theoretical principles and practical applications]. 61
8002334 1994
50
Malignant meningioma in Gorlin's syndrome: cytogenetic and p53 gene analysis. Case report. 61
8057157 1994

Variations for Basal Cell Carcinoma, Multiple

ClinVar genetic disease variations for Basal Cell Carcinoma, Multiple:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RASA1 , CCNH NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) SNV Pathogenic 464870 rs1554044823 GRCh37: 5:86627281-86627281
GRCh38: 5:87331464-87331464
2 PTCH1 NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter) SNV Pathogenic 576491 rs1564055259 GRCh37: 9:98242679-98242679
GRCh38: 9:95480397-95480397
3 RASA1 , CCNH NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) SNV Pathogenic 213660 rs863223718 GRCh37: 5:86672329-86672329
GRCh38: 5:87376512-87376512
4 PTCH1 , LOC100507346 NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter) SNV Pathogenic 931311 GRCh37: 9:98229578-98229578
GRCh38: 9:95467296-95467296
5 RASA1 , CCNH NM_002890.3(RASA1):c.2925+1G>A SNV Likely pathogenic 931156 GRCh37: 5:86682721-86682721
GRCh38: 5:87386904-87386904
6 PTCH1 NM_000264.5(PTCH1):c.3090_3091insGTG (p.Phe1031_Ile1032insVal) Insertion Likely pathogenic 983117 GRCh37: 9:98220372-98220373
GRCh38: 9:95458090-95458091
7 PTCH1 NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys) SNV Uncertain significance 409167 rs781539921 GRCh37: 9:98209514-98209514
GRCh38: 9:95447232-95447232
8 PTCH1 NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) SNV Uncertain significance 409208 rs767792734 GRCh37: 9:98211421-98211421
GRCh38: 9:95449139-95449139
9 PTCH1 NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) SNV Uncertain significance 220717 rs570091335 GRCh37: 9:98224170-98224170
GRCh38: 9:95461888-95461888
10 PTCH1 NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) SNV Uncertain significance 216378 rs750373573 GRCh37: 9:98224206-98224206
GRCh38: 9:95461924-95461924
11 PTCH1 , LOC100507346 NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe) SNV Uncertain significance 524507 rs544963328 GRCh37: 9:98229671-98229671
GRCh38: 9:95467389-95467389
12 PTCH1 NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) SNV Uncertain significance 409215 rs150069331 GRCh37: 9:98270463-98270463
GRCh38: 9:95508181-95508181
13 PTCH1 NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) SNV Uncertain significance 823625 rs758520331 GRCh37: 9:98215872-98215872
GRCh38: 9:95453590-95453590
14 PTCH1 NM_000264.5(PTCH1):c.68C>A (p.Ala23Asp) SNV Uncertain significance 930926 GRCh37: 9:98270576-98270576
GRCh38: 9:95508294-95508294
15 PTCH1 NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) SNV Uncertain significance 188148 rs786204103 GRCh37: 9:98209487-98209487
GRCh38: 9:95447205-95447205
16 PTCH1 NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) SNV Uncertain significance 132753 rs574880967 GRCh37: 9:98209619-98209619
GRCh38: 9:95447337-95447337
17 PTCH1 NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) SNV Uncertain significance 578248 rs1380199153 GRCh37: 9:98242369-98242369
GRCh38: 9:95480087-95480087
18 PTCH2 NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) SNV Uncertain significance 524558 rs747885797 GRCh37: 1:45297430-45297430
GRCh38: 1:44831758-44831758
19 PTCH2 NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) SNV Uncertain significance 570977 rs768246990 GRCh37: 1:45307675-45307675
GRCh38: 1:44842003-44842003
20 PTCH2 NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) SNV Uncertain significance 453931 rs1030456781 GRCh37: 1:45308586-45308586
GRCh38: 1:44842914-44842914
21 PTCH1 NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) SNV Uncertain significance 135105 rs587778631 GRCh37: 9:98209376-98209376
GRCh38: 9:95447094-95447094
22 PTCH1 NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) SNV Uncertain significance 577111 rs111481152 GRCh37: 9:98209400-98209400
GRCh38: 9:95447118-95447118
23 PTCH1 NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys) SNV Uncertain significance 930369 GRCh37: 9:98270607-98270607
GRCh38: 9:95508325-95508325
24 PTCH1 NM_001083602.3(PTCH1):c.-348T>C SNV Uncertain significance 930744 GRCh37: 9:98279101-98279101
GRCh38: 9:95516819-95516819
25 PTCH2 NM_003738.5(PTCH2):c.3185T>G (p.Val1062Gly) SNV Uncertain significance 931578 GRCh37: 1:45288987-45288987
GRCh38: 1:44823315-44823315
26 PTCH1 NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) SNV Uncertain significance 931606 GRCh37: 9:98209360-98209360
GRCh38: 9:95447078-95447078
27 PTCH1 , LOC100507346 NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) SNV Uncertain significance 237462 rs753002023 GRCh37: 9:98231294-98231294
GRCh38: 9:95469012-95469012
28 PTCH1 NM_000264.5(PTCH1):c.1067+5G>C SNV Uncertain significance 237448 rs372657547 GRCh37: 9:98242246-98242246
GRCh38: 9:95479964-95479964
29 PTCH1 NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) SNV Uncertain significance 577136 rs978722722 GRCh37: 9:98209489-98209489
GRCh38: 9:95447207-95447207
30 PTCH1 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) SNV Uncertain significance 188208 rs779791579 GRCh37: 9:98270607-98270607
GRCh38: 9:95508325-95508325
31 PTCH1 NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) SNV Uncertain significance 524547 rs779365332 GRCh37: 9:98209630-98209630
GRCh38: 9:95447348-95447348
32 PTCH1 , LOC100507346 NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) SNV Uncertain significance 188150 rs754623561 GRCh37: 9:98229518-98229518
GRCh38: 9:95467236-95467236
33 PTCH1 NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) SNV Uncertain significance 409137 rs772903899 GRCh37: 9:98241359-98241359
GRCh38: 9:95479077-95479077
34 PTCH1 NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) SNV Uncertain significance 486174 rs139535966 GRCh37: 9:98248139-98248139
GRCh38: 9:95485857-95485857
35 PTCH1 NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser) SNV Uncertain significance 220391 rs371943557 GRCh37: 9:98209495-98209495
GRCh38: 9:95447213-95447213
36 PTCH1 NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) SNV Uncertain significance 486183 rs762040036 GRCh37: 9:98211580-98211580
GRCh38: 9:95449298-95449298
37 PTCH1 NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) SNV Uncertain significance 524544 rs767601899 GRCh37: 9:98242716-98242716
GRCh38: 9:95480434-95480434
38 PTCH2 NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) SNV Uncertain significance 453938 rs539161089 GRCh37: 1:45288751-45288751
GRCh38: 1:44823079-44823079
39 PTCH2 NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln) SNV Uncertain significance 952970 GRCh37: 1:45292420-45292420
GRCh38: 1:44826748-44826748

Expression for Basal Cell Carcinoma, Multiple

Search GEO for disease gene expression data for Basal Cell Carcinoma, Multiple.

Pathways for Basal Cell Carcinoma, Multiple

Pathways related to Basal Cell Carcinoma, Multiple according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.88 RASA1 PTCH1

GO Terms for Basal Cell Carcinoma, Multiple

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

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 8.62 PTCH1 CYP1A1

Sources for Basal Cell Carcinoma, Multiple

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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