Γενετική ανάλυση γονιδίων BRCA1 και BRCA2 σε 'Eλληνες ασθενείς με ανδρικό καρκίνο του μαστού

Postgraduate Thesis uoadl:1310432 269 Read counter

Unit:
Κατεύθυνση Κλινικοπαθολογοανατομική θεώρηση των νεοπλασιών του ανθρώπου
Library of the School of Health Sciences
Deposit date:
2013-12-20
Year:
2013
Author:
Ζαχαροπούλου Παναγιώτα
Supervisors info:
Ανδρέας Λάζαρης
Original Title:
Γενετική ανάλυση γονιδίων BRCA1 και BRCA2 σε 'Eλληνες ασθενείς με ανδρικό καρκίνο του μαστού
Languages:
Greek
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
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
112
Number of pages:
102
File:
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