Article
BRCA1 and BRCA2 mutation testing in Cyprus; a population based study.
Clinical genetics - 1 Apr 2017
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
Abstract excerpt
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, did not have an extensive family history of breast/ovarian cancer but were diagnosed with early onset breast cancer,...
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