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Basal cell carcinoma, susceptibility to, 1(BCC1)

MedGen UID:
414403
Concept ID:
C2751544
Finding
Synonyms: Basal cell carcinoma, multiple; BCC1
 
Genes (locations): PTCH1 (9q22.32); PTCH2 (1p34.1); RASA1 (5q14.3); SMO (7q32.1)
 
OMIM®: 605462

Definition

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). Genetic Heterogeneity of Susceptibility to Basal Cell Carcinoma Susceptibility to basal cell carcinoma is a genetically heterogeneous trait. The BCC1 locus maps to chromosome 1p36. Also see BCC2 (613058) on 1q42; BCC3 (613059) on 5p15; BCC4 (613061) on 12q13; BCC5 (613062) on 9p21; and BCC6 (613063) on 7q32. Variation in the 3-prime untranslated region of TP53 (191170) increases susceptibility to basal cell carcinoma (BCC7; 614740). Somatic mutation contributing to the formation of basal cell carcinoma has been identified in the RASA1 (139150), PTCH1 (601309), and PTCH2 (603673) genes. [from OMIM]

Clinical features

From HPO
Basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.
Basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.

Recent clinical studies

Etiology

Fathi F, Zamani B, Piroozmand A, Mozafarpoor S, Seyedhashemi E, ArefNezhad R, Motedayyen H
Mol Biol Rep 2021 Mar;48(3):2047-2052. Epub 2021 Jan 3 doi: 10.1007/s11033-020-06115-w. PMID: 33389528
Souza AM, Lopes OS, Liberato AL, Oliveira PJR, Herrero SST, Nascimento ALD, Longui CA, Carvalho Filho IR, Soares LF, Silva RBD, Burbano RR, Delatorre P, Lima EM
Asian Pac J Cancer Prev 2020 Jan 1;21(1):25-29. doi: 10.31557/APJCP.2020.21.1.25. PMID: 31983159Free PMC Article
van der Poort EKJ, Gunn DA, Beekman M, Griffiths CEM, Slagboom PE, van Heemst D, Noordam R
J Eur Acad Dermatol Venereol 2020 Jan;34(1):97-100. Epub 2019 Sep 5 doi: 10.1111/jdv.15880. PMID: 31419349
Kim DP, Kus KJB, Ruiz E
Hematol Oncol Clin North Am 2019 Feb;33(1):13-24. doi: 10.1016/j.hoc.2018.09.004. PMID: 30497670
da Silva Calixto P, Lopes OS, Dos Santos Maia M, Herrero SST, Longui CA, Melo CGF, de Carvalho Filho IR, Soares LF, de Medeiros AC, Delatorre P, Khayat AS, Burbano RR, Lima EM
Pathol Oncol Res 2018 Jul;24(3):489-496. Epub 2017 Jun 30 doi: 10.1007/s12253-017-0265-8. PMID: 28667494

Diagnosis

Koronellos N, Yapijakis C, Katoulis A, Avgoustidis D, Vylliotis A, Papakosta V, Diamantopoulou S, Zografos O, Vairaktari G, Vairaktaris E, Vassiliou S
Arch Dermatol Res 2021 Jul;313(5):373-380. Epub 2020 Aug 8 doi: 10.1007/s00403-020-02113-x. PMID: 32772162
Souza AM, Lopes OS, Liberato AL, Oliveira PJR, Herrero SST, Nascimento ALD, Longui CA, Carvalho Filho IR, Soares LF, Silva RBD, Burbano RR, Delatorre P, Lima EM
Asian Pac J Cancer Prev 2020 Jan 1;21(1):25-29. doi: 10.31557/APJCP.2020.21.1.25. PMID: 31983159Free PMC Article
Kim DP, Kus KJB, Ruiz E
Hematol Oncol Clin North Am 2019 Feb;33(1):13-24. doi: 10.1016/j.hoc.2018.09.004. PMID: 30497670
da Silva Calixto P, Lopes OS, Dos Santos Maia M, Herrero SST, Longui CA, Melo CGF, de Carvalho Filho IR, Soares LF, de Medeiros AC, Delatorre P, Khayat AS, Burbano RR, Lima EM
Pathol Oncol Res 2018 Jul;24(3):489-496. Epub 2017 Jun 30 doi: 10.1007/s12253-017-0265-8. PMID: 28667494
Heller ER, Gor A, Wang D, Hu Q, Lucchese A, Kanduc D, Katdare M, Liu S, Sinha AA
Int J Oncol 2013 Feb;42(2):583-96. Epub 2012 Nov 30 doi: 10.3892/ijo.2012.1725. PMID: 23229765

Therapy

van der Poort EKJ, Gunn DA, Beekman M, Griffiths CEM, Slagboom PE, van Heemst D, Noordam R
J Eur Acad Dermatol Venereol 2020 Jan;34(1):97-100. Epub 2019 Sep 5 doi: 10.1111/jdv.15880. PMID: 31419349
Husein-Elahmed H, Gutierrez-Salmeron MT, Aneiros-Cachaza J, Naranjo-Sintes R
Cutis 2017 Jan;99(1):55-60. PMID: 28207005
Li X, Cornelis MC, Liang L, Song F, De Vivo I, Giovannucci E, Tang JY, Han J
Carcinogenesis 2016 Dec;37(12):1138-1143. Epub 2016 Oct 7 doi: 10.1093/carcin/bgw107. PMID: 27797824Free PMC Article
Wu S, Han J, Li WQ, Li T, Qureshi AA
Am J Epidemiol 2013 Sep 15;178(6):890-7. Epub 2013 Jul 4 doi: 10.1093/aje/kwt073. PMID: 23828250Free PMC Article
Peng H, He Q, Zhu J, Peng C
Tumour Biol 2013 Apr;34(2):675-81. Epub 2012 Nov 27 doi: 10.1007/s13277-012-0595-9. PMID: 23184764

Prognosis

Koronellos N, Yapijakis C, Katoulis A, Avgoustidis D, Vylliotis A, Papakosta V, Diamantopoulou S, Zografos O, Vairaktari G, Vairaktaris E, Vassiliou S
Arch Dermatol Res 2021 Jul;313(5):373-380. Epub 2020 Aug 8 doi: 10.1007/s00403-020-02113-x. PMID: 32772162
Sławińska M, Zabłotna M, Gleń J, Lakomy J, Nowicki RJ, Sobjanek M
Arch Dermatol Res 2019 Nov;311(9):697-704. Epub 2019 Jul 24 doi: 10.1007/s00403-019-01952-7. PMID: 31342143Free PMC Article
Kim DP, Kus KJB, Ruiz E
Hematol Oncol Clin North Am 2019 Feb;33(1):13-24. doi: 10.1016/j.hoc.2018.09.004. PMID: 30497670
da Silva Calixto P, Lopes OS, Dos Santos Maia M, Herrero SST, Longui CA, Melo CGF, de Carvalho Filho IR, Soares LF, de Medeiros AC, Delatorre P, Khayat AS, Burbano RR, Lima EM
Pathol Oncol Res 2018 Jul;24(3):489-496. Epub 2017 Jun 30 doi: 10.1007/s12253-017-0265-8. PMID: 28667494
Correia de Sá TR, Silva R, Lopes JM
Future Oncol 2015 Nov;11(22):3011-21. Epub 2015 Oct 9 doi: 10.2217/fon.15.246. PMID: 26449153

Clinical prediction guides

Koronellos N, Yapijakis C, Katoulis A, Avgoustidis D, Vylliotis A, Papakosta V, Diamantopoulou S, Zografos O, Vairaktari G, Vairaktaris E, Vassiliou S
Arch Dermatol Res 2021 Jul;313(5):373-380. Epub 2020 Aug 8 doi: 10.1007/s00403-020-02113-x. PMID: 32772162
van der Poort EKJ, Gunn DA, Beekman M, Griffiths CEM, Slagboom PE, van Heemst D, Noordam R
J Eur Acad Dermatol Venereol 2020 Jan;34(1):97-100. Epub 2019 Sep 5 doi: 10.1111/jdv.15880. PMID: 31419349
Papaggelopoulos J, Angelopoulou A, Avgoustidis D, Koronellos N, Derka S, Vassiliou S, Yapijakis C
Anticancer Res 2019 Oct;39(10):5525-5530. doi: 10.21873/anticanres.13745. PMID: 31570446
Gianferante DM, Rotunno M, Dean M, Zhou W, Hicks BD, Wyatt K, Jones K, Wang M, Zhu B, Goldstein AM, Mirabello L
Mol Genet Genomic Med 2018 Nov;6(6):1168-1180. Epub 2018 Nov 8 doi: 10.1002/mgg3.498. PMID: 30411536Free PMC Article
Gache Y, Brellier F, Rouanet S, Al-Qaraghuli S, Goncalves-Maia M, Burty-Valin E, Barnay S, Scarzello S, Ruat M, Sevenet N, Avril MF, Magnaldo T
PLoS One 2015;10(12):e0145369. Epub 2015 Dec 22 doi: 10.1371/journal.pone.0145369. PMID: 26694869Free PMC Article

Recent systematic reviews

Ma Y, Yu P, Lin S, Li Q, Fang Z, Huang Z
Pharmacol Res 2020 Feb;152:104499. Epub 2019 Nov 2 doi: 10.1016/j.phrs.2019.104499. PMID: 31689521
Peng H, He Q, Zhu J, Peng C
Tumour Biol 2013 Apr;34(2):675-81. Epub 2012 Nov 27 doi: 10.1007/s13277-012-0595-9. PMID: 23184764
Kyrgidis A, Tzellos TG, Vahtsevanos K, Triaridis S
J Surg Res 2010 Mar;159(1):545-56. Epub 2008 Dec 16 doi: 10.1016/j.jss.2008.11.834. PMID: 19285687

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