Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testing

Hereditary Cancer in Clinical Practice

Constantine Dimitrakakis²  Flora Zagouri¹  Iordanis Arzimanoglou³  Fotios Vlachopoulos²  Alexandra Tsigginou² 

[1] Department of Clinical Therapeutics, Alexandra Hospital, Athens University Medical School, Athens, Greece;Breast Unit of the 1st Department of Obstetrics and Gynecology, Athens University Medical School, Athens, Greece;Genomedica, S.A, Piraeus, Greece

关键词: Greece;    Inherited breast cancer;    Family/personal history;    Molecular genetic testing;    Pathogenic mutation;    Molecular alteration;    BRCA;   

Others  :  1224911
DOI  :  10.1186/s13053-015-0037-y

 received in 2015-01-23, accepted in 2015-07-14,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Tsigginou et al.

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