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G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.
Anagnostopoulos T, Pertesi M, Konstantopoulou I, Armaou S, Kamakari S, Nasioulas G, Athanasiou A, Dobrovic A, Young MA, Goldgar D, Fountzilas G, Yannoukakos D. Anagnostopoulos T, et al. Among authors: armaou s. Breast Cancer Res Treat. 2008 Jul;110(2):377-85. doi: 10.1007/s10549-007-9729-y. Epub 2007 Sep 28. Breast Cancer Res Treat. 2008. PMID: 17902052
A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing.
Ladopoulou A, Konstantopoulou I, Armaou S, Efstathiou E, Mihalatos M, Nasioulas G, Bardi G, Pandis N, Yannoukakos D, Athens; Hellenic Cooperative Oncology Group. Ladopoulou A, et al. Among authors: armaou s. Cancer Genet Cytogenet. 2002 Apr 15;134(2):175-7. doi: 10.1016/s0165-4608(01)00623-9. Cancer Genet Cytogenet. 2002. PMID: 12034536 No abstract available.
Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.
Konstantopoulou I, Rampias T, Ladopoulou A, Koutsodontis G, Armaou S, Anagnostopoulos T, Nikolopoulos G, Kamakari S, Nounesis G, Stylianakis A, Karanikiotis C, Razis E, Gogas H, Keramopoulos A, Gaki V, Markopoulos C, Skarlos D, Pandis N, Bei T, Arzimanoglou I, Fountzilas G, Yannoukakos D. Konstantopoulou I, et al. Among authors: armaou s. Breast Cancer Res Treat. 2008 Feb;107(3):431-41. doi: 10.1007/s10549-007-9571-2. Epub 2007 Apr 24. Breast Cancer Res Treat. 2008. PMID: 17453335
Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.
Ladopoulou A, Kroupis C, Konstantopoulou I, Ioannidou-Mouzaka L, Schofield AC, Pantazidis A, Armaou S, Tsiagas I, Lianidou E, Efstathiou E, Tsionou C, Panopoulos C, Mihalatos M, Nasioulas G, Skarlos D, Haites NE, Fountzilas G, Pandis N, Yannoukakos D. Ladopoulou A, et al. Among authors: armaou s. Cancer Lett. 2002 Nov 8;185(1):61-70. doi: 10.1016/s0304-3835(01)00845-x. Cancer Lett. 2002. PMID: 12142080