Περίληψη:
BRCA1 and BRCA2 genes were screened for loss-of-function mutations in a
series of 85 patients having at least one first- or second-degree
relative affected by breast and/or ovarian cancer. All BRCA1 exons and
BRCA2 exons 10 and 11 were screened with a combination of methods
including SSCP, PTT and direct sequencing. We have found
disease-associated mutations in 14 families (16.5%), eleven in BRCA1
and three in BRCA2. The known founder mutation 5382insC of BRCA1 was
identified in seven unrelated families. The other mutations identified
include the non-sense R1751X, the splice junction variant 5586G > A of
BRCA1 and three frameshifts, 2024de15, 3034del4, and 6631del5, of BRCA2.
Nine out of these 14 families had a family history of three or more
breast/ovarian cancer cases. A large number of polymorphic or
unclassified variants is also reported. Combined with our previously
published data 5382insC was found in nine out of 20 families (45%),
suggesting that this mutation may represent a common founder mutation in
the Greek population. (C) 2002 Elsevier Science Ireland Ltd. All rights
reserved.
Συγγραφείς:
Ladopoulou, A
Kroupis, C
Konstantopoulou, I and
Ioannidou-Mouzaka, L
Schofield, AC
Pantazidis, A
Armaou, S
and Tsiagas, I
Lianidou, E
Efstathiou, E
Tsionou, C and
Panopoulos, C
Mihalatos, M
Nasioulas, G
Skarlos, D and
Haites, NE
Fountzilas, G
Pandis, N
Yannoukakos, D
