Genetski čimbenici u etiopatogenezi melanoma

master's thesis

• Title (english): Genetic factors in melanoma etiopathogenesis
• Author: Nikola Šerman
• Mentor: Zrinka Bukvić Mokos (mentor)
• Committee member: Branka Marinović (predsjednik povjerenstva)
• Committee member: Romana Čeović (član povjerenstva)
• Committee member: Zrinka Bukvić Mokos (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Dermatology); Zagreb
• Defense date and country: 2021-07-16, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Dermatovenerology

Abstract

Melanom je izrazito agresivan zloćudni tumor kože koji nastaje iz melanocita, u čijoj etiopatogenezi značajnu ulogu ima interakcija genetskih, epigenetskih i okolišnih čimbenika. U kliničkoj praksi prevladavaju sporadični melanomi dok na nasljedne melanome otpada otprilike 10%. Najveći broj nasljednih melanoma razvija se kao posljedica mutacija gena CDKN2A koji kodira za dva tumor supresorska proteina uključena u regulaciju staničnog ciklusa. Ovaj gen zajedno uz CDK4, TERT i POT1 ubrajamo u gene visokog rizika za nastanak melanoma. Geni koji nose umjereni rizik su MC1R i MITF čiji su proteinski produkti uključeni u sintezu melanina. Budući da osim genetskih faktora razvoju melanoma doprinosi utjecaj okoline neophodno je uključivanje rizičnih skupina u proces genetskog savjetovanja. Tijekom savjetovanja, osim o mogućnosti genetskog testiranja, razgovara se o važnosti zaštite kože od UV zraka, izbjegavanju izlaganja suncu i odlascima na preventivne preglede. Preventivni pregledi ne mogu spriječiti razvoj bolesti, ali omogućuju njeno dijagnosticiranje u najranijem stadiju kada je stopa preživljenja najviša.

Abstract (english)

Melanoma is a highly aggressive malignant skin tumor that originates from melanocytes. Interactions between genetic,epigenetic and environmental factors have an important role in the etiopathogenesis of melanoma. In clinical practice, sporadic melanomas predominate, whereas hereditary ones account for approximately 10%. Most inherited melanomas develop due to mutations in the CDKN2A gene, which encodes for two tumor suppressor proteins involved in cell cycle regulation. This gene, along with CDK4, TERT, and POT1, are high-risk genes for melanoma. Among the genes that carry a moderate risk are MC1R and MITF, whose protein products are involved in melanin synthesis. Since, in addition to genetic factors, the influence of the environment also contributes to the development of melanoma, it is necessary to include risk groups in the process of genetic counseling. During counseling, in addition to the possibility of genetic testing, the importance of protecting the skin from UV rays, avoiding sun exposure and undergoing preventive examinations are discussed. Cancer screening exams cannot prevent the development of the disease, but allow its diagnosis at the earliest stage, when the survival rate is highest.

• Keywords: melanom; geni visokog rizika; geni umjerenog rizika; genetsko savjetovanje
• Keywords (english): melanoma; high-risk genes; moderate risk genes; genetic counseling
• Language: croatian
• URN:NBN: urn:nbn:hr:105:643299
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-05-12 09:02:05