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Τίτλος – Title
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Γενετική Συμβουλευτική για τον Κληρονομικό Καρκίνο του Μαστού και των Ωοθηκών Genetic Counselling for Hereditary Breast and Ovarian Cancer |
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Συγγραφέας – Author
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Άννα Δελτσίδου Τμήμα Νοσηλευτικής, Τεχνολογικό Εκπαιδευτικό Ίδρυμα Λαμίας, Λαμία, Ελλάς Anna Deltsidou Department of Nursing, Technological Educational Institution of Lamia, Lamia, Hellas |
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Παραπομπή – Citation
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Δελτσίδου,Α. : Γενετική Συμβουλευτική για τον Κληρονομικό Καρκίνο του Μαστού και των Ωοθηκών, Επιθεώρηση Κλιν. Φαρμακολ. Φαρμακοκινητ. 27: 283-291 (2009) Deltsidou,Α. : Genetic Counselling for Hereditary Breast and Ovarian Cancer, Epitheorese Klin. Farmakol. Farmakokinet. 27: 283-291 (2009) |
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Ημερομηνία Δημοσιευσης – Publication Date
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25 Οκτωβρίου 2009 – 2009-10-25
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Γλώσσα Πλήρους Κειμένου –
Full Text Language |
Ελληνικά – Greek |
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Παραγγελία – Αγορά –
Order – Buy |
Ηλεκτρονική Μορφή: pdf (15 €) –
Digital Type: pdf (15 €) pharmakonpress[at]pharmakonpress[.]gr |
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Λέξεις κλειδιά – Keywords
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Γενετικός έλεγχος, γενετική συμβουλευτική, κληρονομικός καρκίνος του μαστού και των ωοθηκών, μοντέλα πρόβλεψης
Genetic testing, genetic counseling, hereditary breast and ovarian cancer, predictive models
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Λοιποί Όροι – Other Terms
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Στατιστική Μελέτη Statistical Study |
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Περίληψη – Summary
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Ενώ μικρό μόνο ποσοστό των καρκίνων μπορεί να αποδοθεί στην κληρονομούμενη προδιάθεση, η αναγνώριση των ατόμων υψηλού κινδύνου παίζει σημαντικό ρόλο στην ιατρική αντιμετώπιση και έχει σημαντική επίδραση στον/στην ασθενή, καθώς επίσης στα άμεσα συγγενικά πρόσωπα, αλλά και στην ευρύτερη οικογένεια. Ο κληρονομικός καρκίνος του μαστού ευθύνεται για περισσότερο από 10% της συνολικής επίπτωσης του καρκίνου του μαστού. Στις περισσότερες από αυτές τις περιπτώσεις διαπιστώνεται να ευθύνονται μεταλλάξεις των BRCA γονιδίων. Επιπλέον εκτιμάται ότι περίπου το 15-20% των ατόμων που έχουν προσβληθεί από καρκίνο του μαστού θα έχουν ένα ή περισσότερους πρώτου και/ή δευτέρου βαθμού συγγενείς με καρκίνο του μαστού. Ωστόσο, με το συνδυασμό αυτών των αριθμών, ο κίνδυνος για οικογενειακό καρκίνο του μαστού ευθύνεται για περίπου 20-25% της συνολικής επίπτωσης του καρκίνου του μαστού. Στις περισσότερες περιπτώσεις συνδέεται με τον καρκίνο των ωοθηκών με αυτό που αποκαλείται σύνδρομο κληρονομικού καρκίνου μαστού-ωοθηκών που οφείλεται σε BRCA1 και BRCA2 μεταλλάξεις. Η εκτίμηση, χρησιμοποιώντας μοντέλα πρόβλεψης, είναι ιδιαίτερα χρήσιμη σε άτομα υψηλού κινδύνου για σποραδικό καρκίνο του μαστού. Ο γενετικός έλεγχος μπορεί να βοηθήσει στην έγκαιρη διάγνωση της νόσου, στοχευμένη εντατική παρακολούθηση και να οδηγήσει σε αποτελεσματικές στρατηγικές πρόληψης. Η γνώση του γενετικού κινδύνου μπορεί επίσης να οδηγήσει σε αλλαγή συμπεριφοράς. Ωστόσο, η επίδραση της κατάστασης φορείας από την προοπτική της ψυχολογίας, της συμπεριφοράς και του αντιλαμβανόμενου κινδύνου δεν είναι αρκετά κατανοητή. Αναγνωρίζοντας τα άτομα με αυξημένο κίνδυνο για καρκίνο του μαστού, οι επαγγελματίες υγείας μπορούν να συστήσουν στρατηγικές πρόληψης προσαρμοσμένες στον κίνδυνο για το συγκεκριμένο άτομο. Σε τέτοιες στρατηγικές θα μπορούσαν να συμπεριληφθούν η έγκαιρη έναρξη του ελέγχου για τον καρκίνο, ο πιο συχνός έλεγχος, οι στοχευμένες θεραπευτικές παρεμβάσεις ή οι παρεμβάσεις στη συμπεριφορά, ή η προφυλακτική χειρουργική επέμβαση. Η χημειοπροφύλαξη, η προφυλακτική χειρουργική επέμβαση και η εντατική παρακολούθηση είναι επιλογές οι οποίες προσφέρουν στα άτομα με αυξημένο κίνδυνο για καρκίνο του μαστού. While only a small percentage of cancers can be attributed to a hereditary susceptibility, identifying high-risk individuals plays an important role in medical management and has a considerable impact on the patient as well as their direct and extended family members. Hereditary breast cancer accounts for as much as 10% of the total breast cancer burden. Most of these cases will be found to be due to a BRCA germline mutation. An estimated additional 15-20% of those affected with breast cancer will have one or more first- and/or second-degree relatives with breast cancer. Nevertheless, with the combination of these numbers, familial breast cancer risk accounts for approximately 20-25% of the total breast cancer burden. Its most common occurrence is its association with ovarian cancer in the so called hereditary breast-ovarian cancer syndrome due to BRCA1 and BRCA2 mutations. Assessment using a predictive model is particularly useful in individuals at increased risk for sporadic breast cancer. Genetic testing might facilitate early disease detection, targeted surveillance, and result in effective prevention strategies. Knowledge of genetic risk may also enable behavioral change. However, the impact of carrier status from the psychological, behavior, and perceived risk perspectives is not well understood. By identifying individuals with an increased risk of breast cancer, health professionals can recommend prevention strategies adapted to individual risk levels. Such strategies could include early initiation of cancer screening, more frequent screening, targeted therapeutic or behavioral interventions, or prophylactic surgery. Chemoprevention, prophylactic surgery and intensified screening programs are options which can be offered to the patients with an increased lifetime risk for breast cancer. |
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Αναφορές – References
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Τι είναι η Επιθεώρηση Κλινικής Φαρμακολογίας και Φαρμακοκινητικής-Ελληνική Έκδοση-Οδηγίες προς τους Συγγραφείς
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Άρθρα Δημοσιευμένα στην Επιθεώρηση Κλινικής Φαρμακολογίας και Φαρμακοκινητικής-Ελληνική Έκδοση
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