Author/Authors :
Angela Ladopoulou، نويسنده , , A. and Kroupis، نويسنده , , C. and Konstantopoulou، نويسنده , , I. and Ioannidou-Mouzaka، نويسنده , , L. and Schofield، نويسنده , , A.C. and Pantazidis، نويسنده , , A. and Armaou، نويسنده , , S. and Tsiagas، نويسنده , , I. and Lianidou، نويسنده , , E. and Efstathiou، نويسنده , , E. and Tsionou، نويسنده , , C. and Panopoulos، نويسنده , , C. and Mihalatos، نويسنده , , M. and Nasioulas، نويسنده , , G. and Skarlos، نويسنده , , D. and Haites، نويسنده , , N.E. and Fountzilas، نويسنده , , G. and Pandis، نويسنده , , N. and Yannoukakos، نويسنده , , D.، نويسنده ,
Abstract :
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, 2024del5, 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.
Keywords :
BRCA1 , GREECE , BRCA2 , Breast ovarian cancer , Familial
