Γονίδιο για τον Καρκίνο του Μαστού και των Ωοθηκών

Ερευνητές του κληρονομικού καρκίνου,η ερευνητική ομάδα του Bellvitge Ινστιτούτο Βιοϊατρικών Ερευνών (IDIBELL) και το καταλανικό Ινστιτούτο Ογκολογίας (ICO) διεξήγαγε μια λειτουργική και δομική μελέτη των επτά παραλλαγών  του BRCA1 γονιδίου και καταλήγουν στο συμπέρασμα ότι τρεις από αυτές τις παραλλαγές είναι παθογόνες και συνδέονται με τον κίνδυνο να νοσήσουν από καρκίνο του μαστού ή καρκίνο των ωοθηκών . Η μελέτη έχει δημοσιευθεί στο περιοδικό PLoS One.

Μεταλλάξεις στο BRCA1 προσδίδουν υψηλό κίνδυνο ανάπτυξης του μαστού ή καρκίνο των ωοθηκών. Μια γυναίκα που μεταφέρει μια μετάλλαξη στο γονίδιο αυτό έχει ένα υψηλό κίνδυνο ανάπτυξης καρκίνου του μαστού μεταξύ 40% και 90% και ανάπτυξης  καρκίνου των ωοθηκών μεταξύ 20% και 70%.

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