BRCA1 and BRCA2 mutation testing in Cyprus; a population based study

This paper presents the largest study in Cyprus evaluating the frequency and distribution of BRCA1/2 mutations in a high risk patient cohort. Deleterious mutations in the BRCA1/2 genes were identified in 68 of the 527 patients tested (13%). It is of interest that a quarter of those tested positive,...

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Veröffentlicht in:	Clinical genetics 2017-04, Vol.91 (4), p.611-615
Hauptverfasser:	Loizidou, M.A., Hadjisavvas, A., Pirpa, P., Spanou, E., Delikurt, T., Tanteles, G.A., Daniel, M., Kountourakis, P., Malas, S., Ioannidis, G., Zouvani, I., Kakouri, E., Papamichael, D., Marcou, Y., Anastasiadou, V., Kyriacou, K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged BRCA BRCA1 Protein - genetics BRCA2 Protein - genetics Breast cancer Cyprus - epidemiology Female Genetic Predisposition to Disease Genetic Testing Genetics, Population Health risk assessment Humans Middle Aged Molecular Epidemiology Mutation Ovarian cancer Ovarian Neoplasms - epidemiology Ovarian Neoplasms - genetics predisposition Triple Negative Breast Neoplasms - epidemiology Triple Negative Breast Neoplasms - genetics
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