Keratinocyte cancer

1.1 Epidemiology of basal cell carcinoma

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Clinical practice guidelines for keratinocyte cancer > 1.1 Epidemiology of basal cell carcinoma

Incidence of basal cell carcinoma[edit source]

The incidence of basal cell carcinoma (BCC) is higher than that of any other cancer, though precise rates are unknown because generally BCCs are not registered and estimates from other sources are not current. The last national non-melanoma skin cancer survey, conducted in 2002, found the age-standardised annual incidence rate for BCC was 884 per 100,000, and was higher in men (1041 per 100,000) than in women (745 per 100,000).[1] The survey also showed a strong inverse association with latitude, with the highest incidence in northern Australia, confirming collective observations from various local population-based surveys. For example, in Townsville, northern Queensland, age-standardised annual BCC incidence rates per 100,000 were 2058 for men and 1195 for women in 1997,[2] similar to corresponding rates of 2074 and 1579 per 100,000 in Nambour, south-eastern Queensland, in 1992,[3] but much higher than the estimated annual rate of 672 per 100,000 in Maryborough, Victoria, in the 1980s.[4]

More recent estimates of BCC incidence for Australia (2011–2014) were based on data from a 10% random sample of Medicare administrative claims, examining item codes for excision of keratinocyte cancers (KCs), together with age- and sex-specific ratios of cutaneous squamous cell carcinoma (cSCC) to BCC from a population-based cohort. Annual incidence of BCC was estimated to be 770 per 100,000 (656 per 100,000 in women and 899 per 100,000 in men).[5] Consistent with the 2002 survey, an inverse latitude gradient was observed, with the highest rates in Queensland (1355 per 100,000) and the lowest in Tasmania and Victoria (482 per 100,000).

These incidence rates are based on the number of persons affected per year; when the incidence of lesions is considered, the rates are considerably higher. For example, a 1992 survey conducted in Geraldton, Western Australia, reported annual BCC tumour incidence rates of 7000 and 3380 per 100,000 in men and women respectively, reflecting the high risk of multiple BCCs in those affected.[5][6][7][8]

Incidence of BCC rises with age, but not linearly. In Australia, incidence in men is higher than in women up to approximately age 50 years, but similar at older ages.[9]

In both sexes, over 50% of BCCs occur on the head or neck (mostly the face, especially eyelid, lip and nasolabial fold, followed by ears, nose and cheek),[2] approximately 25% on the trunk and approximately 10% each on the upper and lower limbs.[1]

The mortality rate of BCC is very low, at 1.9 deaths per 100,000 person–years at risk (total population).[10]

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Host factors[edit source]

Phenotypic factors that have been consistently and independently associated with increased risks of BCC include light skin that burns and does not tan (approximately 2-fold increase), propensity to freckling (approximately 2-fold increase), red hair (approximately 2-fold increase) and blue eyes (approximately 1.5-fold increase).[11][12][13]

Prospective cohort studies have demonstrated that people who have photodamaged skin also have increased risks of BCC. Signs of photodamage associated with increased risk include the presence of actinic keratosis (greater than 3-fold increase), telangiectasia (greater than 3-fold increase), solar lentigines (approximately 3-fold increase), and elastosis of the skin of the neck (approximately 2-fold increase).[11][14][15]

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Environmental factors[edit source]

Sunlight[edit source]

The substantial epidemiological evidence that ultraviolet (UV) radiation is the principal environmental cause of BCC is complemented by evidence from sequencing studies of BCC genomes. These studies have demonstrated exceedingly high burdens of genomic damage in BCC tumour DNA,[16] mostly due to characteristic ‘signature mutations’, which are incurred specifically through UV-induced photolesions.

Despite the strong association with UV radiation, the dose–response relationship shows no direct correlation between total cumulative dose and risk of BCC. For example, a large, prospective study reported no association between occupational UV radiation exposure and risk of BCC.[17] This finding mirrors those of the prospective Nambour Skin Cancer Study, which also found that BCC rates in outdoor workers were not significantly higher than rates among indoor workers.[3] However, there was evidence of self-selection bias, whereby people with sun-sensitive phenotypes were grossly under-represented among outdoor occupations.[3]

A meta-analysis of 24 studies found increased risks of BCC with outdoor work (summary odds ratio [OR] 1.43, 95% confidence interval [CI] 1.23–1.66), but observed significant heterogeneity by latitude, where studies conducted in countries with high levels of ambient UV radiation had less marked associations with outdoor work than studies conducted in high-latitude countries.[18] However, early life sun exposure appears important,[17][19] consistent with the observation that BCC is relatively common in younger age groups as well as older age groups.[5]

Patterns of exposure may also be important. High-quality prospective studies have shown strong associations with numbers of sunburns,[3][11] especially with sunburns occurring in early or middle life.[20]

Artificial UV radiation[edit source]

Artificial tanning devices emitting UV radiation across wavelengths in the mutagenic spectrum are used for cosmetic purposes, especially by young women. The International Agency for Research on Cancer Working Group has classified such devices as ‘carcinogenic to humans’ (Group 1 carcinogen).[21] Evidence that exposure to tanning devices increases the risk of BCC comes largely from case-control studies showing up to 2-fold higher risks of BCC among ever users compared with never users.[22][23] Although commercial tanning devices were banned in Australia by 1 January 2016, many Australians have previously been exposed to commercial solariums and individuals can still use tanning devices privately.

Medical sources of exposure to artificial UV radiation include psoralen and ultraviolet A (PUVA), which was used in the past to treat psoriasis, and narrowband UVB, which superseded PUVA. In a US long-term prospective follow-up study with mean age 44 years at enrolment, patients who first received PUVA therapy in the mid-1970s had higher BCC rates than the general US population.[24]

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Other sources of radiation[edit source]

There is consistent evidence that exposure to ionising radiation increases the risk of BCC.[25][26][27]

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Arsenic[edit source]

Inorganic arsenic is found naturally in soil or rock, where it can enter surface and groundwater. In previous eras, it was used for the treatment of many diseases, from anaemia to syphilis. Its association with skin cancer has long been known.[28] Follow-up studies showed high rates of BCC among people in Queensland exposed to trivalent inorganic arsenic early in life through ingestion of an asthma medicine manufactured during the 1950s.[29]

High levels of arsenic have been found in contaminated drinking water supplies in many countries, and these have been associated with high rates of BCC.[30] The Australian drinking water guidelines recommend that arsenic concentrations in drinking water should not exceed 10µg/L.[31] Values observed in Australia typically range from less than 5µg/L to 15µg/L. While data are sparse, US studies have found no evidence that low-level arsenic in drinking water is associated with BCC risk.[32]

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Smoking[edit source]

Two large meta-analyses conducted in 2012 reported inverse associations between smoking and BCC.[33][34] Subsequently, three large prospective cohort studies have also reported inverse associations between smoking and BCC.[35][36][37] On investigation, however, the observed decrease in BCC risk among smokers appeared to be a secondary (non-causal) association reflecting low BCC detection rates among current smokers, compared with non-smokers, due to the fact that smokers are less likely to undergo physician-led skin examinations and have asymptomatic BCCs diagnosed.[36]

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Alcohol[edit source]

Numerous studies have examined the association between alcohol consumption and risk of BCC, with mixed results.

A meta-analysis combining various prospective and case-control studies found a significant dose–response relationship between alcohol and BCC (summary RR 1.07, 95% CI 1.04–1.09).[38] However, a well-characterised Australian skin cancer cohort study observed no association between total alcohol intake and BCC risk, or any associations with specific classes of alcoholic beverages.[39]

In summary, it is unlikely that a strong causal association exists, although modest contributory effects of alcohol to BCC risk cannot be discounted.

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Diet[edit source]

Two comprehensive reviews published in in 2005 and 2010[40][41] found no consistent evidence that BCC risk is influenced by dietary intakes or serum levels of retinol (vitamin A), carotenoids, vitamin C, vitamin D, tocopherol (vitamin E), selenium, or trace elements (copper, iron, zinc).

Tea and coffee are two commonly consumed beverages that contain numerous bioactive compounds with anti-carcinogenic potential such as polyphenols and phytochemicals. Evidence from studies measuring the association between tea and coffee consumption and KC in humans is weak and inconsistent, showing either reduced risks of BCC associated with high levels of caffeinated coffee intake[42][43] or no evidence that overall caffeine consumption was associated with BCC.[44][45]

These limited findings must be interpreted cautiously, as very few dietary components have been investigated in randomised trials. Most data derive from observational studies, in which dietary measurement is extremely challenging.

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Viruses[edit source]

Most research interest has focused on human papillomavirus (HPV) and the hypothesis that skin cells infected with beta-HPV types may be transformed by the expression of viral E6 and E7 proteins involved in cell stability. To date, there is relatively little evidence from studies comparing HPV status in people with BCC and in healthy controls without BCC, and available evidence is inconsistent.[46][47][48]

Overall, there is no strong evidence that HPV is causally associated with BCC.

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Genetic epidemiology[edit source]

Rare, high-risk susceptibility genes[edit source]

The first insights into the genetic causes of BCC were provided by studies of patients with naevoid BCC syndrome (Gorlin's syndrome),[49] a rare autosomal dominant disorder characterised by the development of multiple early-onset BCCs, other cancers, and other phenotypic abnormalities. The primary cause of naevoid BCC syndrome is mutations in the patched 1 gene (PTCH1), a tumour suppressor gene[50] that is a key regulatory component of the hedgehog signalling pathway. Activation of this pathway appears to occur early in BCC development.[51]

Other hereditary syndromes that cause early-onset BCC are Bazex-Dupre-Christol syndrome[52] and Rombo syndrome.[53]

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Common, low- to moderate-risk susceptibility genes[edit source]

Genome-wide association studies have identified other susceptibility loci, including a variant at 9q21 (containing both the CDKN2A and CDKN2B genes), genes associated with pigmentation traits such as ASIP, TYR, SLC45A2I and MC1R, 1p36, 1q42,[54][55] variants in the TERT-CLPTM1L locus,[56] and two novel susceptibility loci at TGM3 and RGS22.[57][58]

TGM3 is thought to influence susceptibility via disturbance of corneocyte differentiation (causing barrier defects), while the function of RGS22 is unclear.[59]

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Somatic mutations[edit source]

Sequencing studies show that BCCs have the highest mutation burden of all cancers. Most mutations have a UV radiation signature,[16] especially those of BCCs on chronically exposed anatomic sites. They commonly carry mutations in PTCH1 and TP53 and, to a lesser extent, SMO.[16][51]

A recent study of 293 BCC tumours identified recurrent mutations in other cancer-related genes including MYCN, PPP6C, STK19, and LATS1, as well ERBB2, PKI3CA and the RAS family.[60]

Frequent mutations within promoter regions of TERT and DPH3-OXNAD1 have also been reported,[61][62] suggesting that BCCs likely arise through multiple molecular pathways. 

Key point(s)

Sun protection throughout life (including appropriate use of clothing and Therapeutic Good Administration-approved sunscreen labelled SFP30 or higher) should be promoted and encouraged to reduce the risk of basal cell carcinoma.

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References[edit source]

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