Epidemiologic and genetic study of the skin phototype in patients with cutaneous basal cell carcinoma compared with controls

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Εθνικό Αρχείο Διδακτορικών Διατριβών
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2011 (EL)
Επιδημιολογικός και γενετικός προσδιορισμός του φωτότυπου δέρματος σε ασθενείς με βασικοκυτταρικό καρκίνο δέρματος και σύγκριση με μάρτυρες
Epidemiologic and genetic study of the skin phototype in patients with cutaneous basal cell carcinoma compared with controls

Δεσινιώτη, Κλειώ

Introduction: Cutaneous basal cell carcinoma (BCC) is the most common form ofskin cancer in humans and its incidence is rising worldwide. There are only fewstudies of the epidemiologic and molecular (MC1R polymorphisms) risk factors forBCC development in the literature, and there is limited data concerning SouthernEuropean populations that are characterized by a darker skin and hair color, and adarker skin phototype.Aim: This is a study of epidemiologic and molecular risk factors associated with BCCdevelopment in a population from Greece.Methods: A standardized questionnaire was used to collect data from 199 patientswith histologically confirmed BCC and 200 healthy controls, about the type of sunexposure, the history of sunburning, sunprotection measures, skin phototype and thehistory of skin cancer. Patients and controls were examined for the presence ofmelanocytic nevi, actinic keratoses, and solar lentigines. The location and type ofBCC was recorded. The role of MC1R polymorphisms was studied with PCR andsequencing. A separate analysis of early onset BCC (diagnosed in patients youngerthan 50 years old) was made.Conclusions: Skin phototype was not found to be a valuable tool for estimating BCCrisk. On the other hand, fair skin color, the presence of objective markers of sunexposure (solar lentigines), the years of outdoor occupational sun exposure, and thesunburns after the age of 20, were associated with increased BCC risk.Subgroup analysis showed that different epidemiologic risk factors are associatedwith early onset BCC, including the presence of clinically dysplastic nevi, intermittentsun exposure during summer holidays and the history of sunburns during childhood.In the molecular study, MC1R polymorphisms (especially their number) were shownto be a predisposing risk factor for BCC development, independently of skin colorand phototype.Conclusions: Sunprotection and avoidance of sunburns should continue throughoutlifetime and not only during childhood, and this information should be included inskin cancer prevention campaigns in Greece. Also, it is suggested, that, like cutaneousmalignant melanoma, BCC is a heterogeneous tumor, with different subtypes (earlyonset versus late onset BCC) being associated with distinct risk factors.The study of epidemiologic and molecular risk factors of BCC development in theGreek population may provide new data for a better understanding of BCCpathogenesis, the design of better prevention policies, and the possibility ofindividualized diagnosis.

Ultraviolet radiation
Υπεριώδης ακτινοβολία
Basal cell carcinoma
Βασικοκυτταρικό καρκίνωμα
Πρώϊμη έναρξη
Παράγοντες κινδύνου
Early onset
MCIR polymorphisms
MCIR πολυμορφισμοί
Risk factors

Εθνικό Κέντρο Τεκμηρίωσης (ΕΚΤ) (EL)
National Documentation Centre (EKT) (EN)

Ελληνική γλώσσα


National and Kapodistrian University of Athens
Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)

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