Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.

doi:10.1007/s10549-007-9571-2

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Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.

Breast cancer research and treatment - 1 Feb 2008

Konstantopoulou Irene, Rampias Theodore, Ladopoulou Angela, Koutsodontis George, Armaou Sophia, Anagnostopoulos Theodore, Nikolopoulos George, Kamakari Smaragda, Nounesis George, Stylianakis Antonis, Karanikiotis Charisios, Razis Evangelia, Gogas Helen, Keramopoulos Antonios, Gaki Vassiliki, Markopoulos Christos, Skarlos Dimosthenis, Pandis Nikos, Bei Thalia, Arzimanoglou Iordanis, Fountzilas George, Yannoukakos Drakoulis

Abstract excerpt

127 Greek breast/ovarian cancer families were screened for germline BRCA1/2 mutations by dHPLC followed by direct sequencing. Our results indicated 16 and 5 breast/ovarian cancer families bearing deleterious mutations in the BRCA1 and BRCA2 genes, respectively. Two novel BRCA2 germline mutations (G4X and 3783del10) are reported here for the first time. Subsequent compilation of our present findings with...

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PMID: 17453335
DOI: 10.1007/s10549-007-9571-2

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BRCA1
BRCA2

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