New molecular genetic technologies in cancer diagnosis and prognosis with emphasis on breast and colon cancer

Doctoral Dissertation uoadl:3370077 34 Read counter

Unit:
Department of Pharmacy
Library of the School of Science
Deposit date:
2023-11-28
Year:
2023
Author:
Chatzidaki Maria
Dissertation committee:
Ι. ΛΟΥΚΑΣ, AN. ΚΑΘΗΓΗΤΗΣ, ΤΜΗΜΑ ΦΑΡΜΑΚΕΥΤΙΚΗΣ, ΕΚΠΑ
Ι. ΝΤΟΤΣΙΚΑΣ, AN. ΚΑΘΗΓΗΤΗΣ, ΤΜΗΜΑ ΦΑΡΜΑΚΕΥΤΙΚΗΣ, ΕΚΠΑ
Γ. ΠΑΤΡΙΝΟΣ, ΚΑΘΗΓΗΤΗΣ, ΤΜΗΜΑ ΦΑΡΜΑΚΕΥΤΙΚΗΣ ΠΑΝΕΠΙΣΤΗΜΙΟ ΠΑΤΡΩΝ
ΕΙΡ. ΠΑΝΤΕΡΗ, ΚΑΘΗΓΗΤΡΙΑ, ΤΜΗΜΑ ΦΑΡΜΑΚΕΥΤΙΚΗΣ, ΕΚΠΑ
Ε. ΓΚΙΚΑΣ, ΚΑΘΗΓΗΤΗΣ, ΤΜΗΜΑ ΧΗΜΕΙΑΣ, ΕΚΠΑ
Ν. ΔΡΑΚΟΥΛΗΣ, ΚΑΘΗΓΗΤΗΣ, ΤΜΗΜΑ ΦΑΡΜΑΚΕΥΤΙΚΗΣ, ΕΚΠΑ
Ε. ΚΑΡΑΛΗΣ, AN. ΚΑΘΗΓΗΤΗΣ, ΤΜΗΜΑ ΦΑΡΜΑΚΕΥΤΙΚΗΣ, ΕΚΠΑ
Original Title:
Νέες τεχνολογίες μοριακών γενετικών αναλύσεων στη διάγνωση και στην πρόγνωση του καρκίνου με έμφαση στο μαστό και στο παχύ έντερο
Languages:
English
Translated title:
New molecular genetic technologies in cancer diagnosis and prognosis with emphasis on breast and colon cancer
Summary:
Breast cancer is the second most common type of cancer in the female population, while ovarian cancer ranks sixth. The disease is inherited in an autosomal dominant manner. BRCA1 & BRCA2 gene mutations account for 5-10% of clinical cases of breast and/or ovarian cancer. With the evaluation made regarding the mutations in the Greek population and the detection of pathogenic mutations in genes other than BRCA1 and BRCA2 we conclude that the mutation gene panel examination is very important. the most useful tool for the detection of as many mutations as possible, but also for the detection of large deletions or duplications, is WGS, where the analysis of CNVs can also be carried out. This additional information may help in the early diagnosis of breast cancer and subsequently in its better prognosis. The aim of the present study , regarding breast cancer, was to evaluate the techniques and their results so as to use the most suitable ones for immediate diagnosis and better prognosis.
In the colon, the change in the methylation pattern is observed in the early stages of cancer and is directly linked to the onset of the disease. Early detection of polyps reduces the risk of metastases through their subsequent removal, while the diagnosis of colon cancer at an early asymptomatic stage ensures a greater chance of successful treatment. Early detection of polyps reduces the risk of metastases through their subsequent removal, while the diagnosis of colon cancer at an early asymptomatic stage ensures a greater chance of successful treatment. Therefore, it was deemed necessary to develop a non-invasive screening method for suspicious cases. The method is based on the evaluation of the epigenetic marker of methylation in epithelial cells that have been excreted with the feces. Specifically, the methylation levels of three genomic regions of DNA extracted from epithelial cells are determined. Feces appear to be the sample of choice for non-invasive colon cancer screening as DNA (ctDNA) is derived directly from tumor tissue and/or precancerous lesions. The method was evaluated and it is very important that it seems to be able to detect even very small lesions (polyps). In conclusion, it is a method that can contribute to the early diagnosis and therefore to the good prognosis of colon cancer.
Main subject category:
Science
Other subject categories:
Health Sciences
Keywords:
molecular genetic technologies, cancer diagnosis, cancer prognosis, breast cancer, colon cancer
Index:
Yes
Number of index pages:
5
Contains images:
Yes
Number of references:
137
Number of pages:
128
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