Τίτλος:
Cumulative BRCA mutation analysis in the Greek population confirms that
homogenous ethnic background facilitates genetic testing
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Screening for BRCA 1 and BRCA 2 mutations has long moved from the
research lab to the clinic as a routine clinical genetic testing. BRCA
molecular alteration pattern varies among ethnic groups which makes it
already a less straightforward process to select the appropriate
mutations for routine genetic testing on the basis of known clinical
significance.
The present report comprises an in depth literature review of the so far
reported BRCA 1 and BRCA 2 molecular alterations in Greek families. Our
analysis of Greek cumulative BRCA 1 and 2 molecular data, produced by
several independent groups, confirmed that six recurrent deleterious
mutations account for almost 60 % and 70 % of all BRCA 1 and 2 and
BRCA 1 mutations, respectively.
As a result, it makes more sense to perform BRCA mutation analysis in
the clinic in two sequential steps, first conventional analysis for the
six most prevalent pathogenic mutations and if none identified, a second
step of New Generation Sequencing-based whole genome or whole exome
sequencing would follow. Our suggested approach would enable more
clinically meaningful, considerably easier and less expensive BRCA
analysis in the Greek population which is considered homogenous.
Συγγραφείς:
Tsigginou, Alexandra
Vlachopoulos, Fotios
Arzimanoglou, Iordanis
and Zagouri, Flora
Dimitrakakis, Constantine
Περιοδικό:
Hereditary Cancer in Clinical Practice
Λέξεις-κλειδιά:
BRCA; Molecular alteration; Pathogenic mutation; Molecular genetic
testing; Family/personal history; Inherited breast cancer; Greece
DOI:
10.1186/s13053-015-0037-y
