Unit:
Κατεύθυνση Κλινικοπαθολογοανατομική θεώρηση των νεοπλασιών του ανθρώπουLibrary of the School of Health Sciences
Author:
Ζαχαροπούλου Παναγιώτα
Supervisors info:
Ανδρέας Λάζαρης
Original Title:
Γενετική ανάλυση γονιδίων BRCA1 και BRCA2 σε 'Eλληνες ασθενείς με ανδρικό καρκίνο του μαστού
Summary:
Male Breast Cancer is considered to be a rare cancer, accounting for only 1% of
all cancers. However, the percentage has been increasing for the past years in
a worldwide climax, while clinical studies and trials concerning the disease
are very few. Since the identification of the susceptibility of BRCA1 and BRCA2
in male breast cancer, mutational analyses have been carried out, in order to
identify the mutations which are prevalent for different populations, in small
samples. In this study, 20 male breast cancer Greek patients were screened for
mutations and genomic rearrangements in BRCA1 and BRCA2, using next generation
sequencing and MLPA. One founder mutation were found in one patient in BRCA1
and more specifically, 5832insC, while no genomic rearrangement were
identified.
Keywords:
Μale, Βreast cancer, BRCA1, BRCA2
Number of references:
112
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