Molecular aetiology and pathogenesis of basal cell carcinoma

Tilli, C.M.L.J.; Steensel, M.A.M. van; Krekels, Gertruud A. M.; Neumann, H. A. M.; Ramaekers, F.C.S.

doi:10.1111/j.1365-2133.2005.06587.x

Cited by 123 publications

(146 citation statements)

References 302 publications

(467 reference statements)

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“…A good substitute for it will exist with the availability of limited primary excision followed by adjuvant therapy using an immunomodulator, a proapoptotic agent and/or a cell-signaling modulator (Tilli et al, 2005;Sekulic et al, 2012;Tang et al, 2012;Macha et al, 2013). This better and novel treatments and tailored drug therapy is regarded the most likely short-term benefit from genetic association studies (Hirschhorn et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

Exploratory Investigation of Genetic Associations with Basal Cell Carcinoma Risk: Genome-Wide Association Study in Jeju Island, Korea

Yun

Song²,

Lee³

2014

Asian Pacific Journal of Cancer Prevention

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Aim: Little is known about the genetic associations with Basal cell carcinoma (BCC) risk in non-Caucasian populations, in which BCC is rare, as in Korea. We here conducted a pilot genome-wide association study (GWAS) in 12 patients and 48 standard controls. Method: A total of 263,511 SNPs were analyzed with the Illumina HumanOmni1 Quad v1.0 DNA Analysis BeadChip for cases and Korean HapMap 570K for controls. Results: SNP-based analyses, based on the allele genetic model with adjustment for sex and age showed suggestive associations with BCC risk for 6 SNPs with a P-value (P < 0.0005). However, these associations were not statistically significant after Bonferroni correction: rs1040503, rs2216491, rs13407683, rs4751072, rs9891263, and rs1368474. In addition, results from gene-based analyses showed suggestive associations with BCC risk for 33 candidate genes with a P-value (P <0.0005). Consistent with previous GWAS and replication studies in Caucasian populations, PADI6, RHOU and SLC45A2 were identified as having null associations with BCC (P > 0.05), likely due to the smaller sample size. Conclusions: Although this was a small-scale negative study, to our knowledge, we have conducted the first GWAS for BCC risk in an Asian population. Further large studies in non-Caucasian populations are required to achieve statistical significance and confirm these findings.

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Section: Discussionmentioning

confidence: 99%

Exploratory Investigation of Genetic Associations with Basal Cell Carcinoma Risk: Genome-Wide Association Study in Jeju Island, Korea

Yun

Song²,

Lee³

2014

Asian Pacific Journal of Cancer Prevention

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“…Some authors suggested that TP53 mutations in BCC could be secondary, occurring after the initiation of the tumor. 35 Recent studies on gene TP53 have demonstrated mutations of the "UV signature" type, i.e., predominant conversions of C(C)♦T(T). Thirty-three percent of patients with BCC of Korean origin presented mutations in p53, 36 which attained 50% in Caucasian patients.…”

Section: Protein P53 and The Cell Cycle Inhibitorsmentioning

confidence: 99%

Genética molecular aplicada ao câncer cutâneo não melanoma

Martinez

Francisco

Cabral

et al. 2006

An. Bras. Dermatol.

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Non-melanoma skin cancers are the most common malignant neoplasms in humans. About 95% of all non-melanoma skin cancers are represented by basal cell carcinoma and squamous cell carcinoma. Their prevalences are still increasing worldwide, representing an important public health problem. The genetic alterations underlying basal cell carcinoma and squamous cell carcinoma development are only partly understood. Much interest lies in determining the genetic basis of non-melanoma skin cancers, to explain their distinctive phenotypes, biological behaviors and metastatic potential. We present here a molecular genetic update, focusing on the most frequent genes and genomic instability involved in the development and progression of non-melanoma skin cancers. Keywords: Carcinoma, basal cell; Carcinoma, squamous cell; Chromosomal instability; Loss of heterozygosity; Microsatellite repeats; Skin neoplasms; Skin neoplasms/genetics Resumo: Os cânceres cutâneos não melanoma são as neoplasias malignas mais comuns em humanos. O carcinoma basocelular e o carcinoma espinocelular representam cerca de

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“…BCCs occur most on sun-exposed areas of the body, such as the head and neck (80% of cases). Acute and chronic skin exposure to ultraviolet radiation is supposed to be a crucial factor in the development of skin cancer [9,22]. However, it is not likely that the increased incidence in young persons over time is due to sun exposure alone.…”

Section: Introductionmentioning

confidence: 99%

“…Although mortality rates are low, BCCs may grow per continuitatem and cause severe local destruction. Metastasis occurs in less than 1% [19,22].…”

Section: Introductionmentioning

confidence: 99%

Incidence of cancer in first-degree relatives of basal cell carcinoma patients

et al. 2008

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There is evidence to suggest that genetic factors play an important role in the development of basal cell carcinomas (BCCs), and that skin neoplasms might be a sign for a genetic predisposition to cancer. We investigated whether the incidence of visceral and skin malignancies among Wrst-degree relatives of BCC-patients was increased. Postal questionnaires were sent to 249 BCCpatients, who were divided into two groups (young = BCC under the age of 51 years and older = BCC over the age of 50 years), and asked them about cancer in their Wrst-degree relatives. The reported numbers of cancer among the relatives were compared with the expected numbers based on sex and age-speciWc population-based incidence rates. The accuracy of the reported diagnoses was veriWed. A total of 157 BCC-patients reported 277 malignancies in 1,272 relatives. The incidence of the following cancers was higher than expected in relatives from young BCC-patients: bone and soft tissue (O/E = 3.91; 95% CI: 1.43-8.66), skin (O/ E = 2.13; 95% CI: 1.30-3.29) and digestive tract (O/ E = 1.59; 95% CI: 1.10-2.23). In relatives of older BCCpatients, only the incidence of digestive tract cancer was higher than expected (O/E = 1.44; 95% CI: 1.08-1.89). Diagnoses that were veriWed turned out to be accurate in 87% of the cases. This study suggests that the risk of certain cancers, particularly that of the digestive tract, in Wrstdegree relatives of BCC-patients is increased. These Wndings may indicate a genetic predisposition to both skin and visceral malignancies in this patient group.

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Molecular aetiology and pathogenesis of basal cell carcinoma

Cited by 123 publications

References 302 publications

Exploratory Investigation of Genetic Associations with Basal Cell Carcinoma Risk: Genome-Wide Association Study in Jeju Island, Korea

Exploratory Investigation of Genetic Associations with Basal Cell Carcinoma Risk: Genome-Wide Association Study in Jeju Island, Korea

Genética molecular aplicada ao câncer cutâneo não melanoma

Incidence of cancer in first-degree relatives of basal cell carcinoma patients

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