GERMLINE MUTATIONS IN BRCA1/2 IN PATIENTS FROM CEMIC AND THE UNIVERSITY OF BUENOS AIRES REVEALS HIGH HETEROGENEITY AND NOVEL VARIANTS: CONSTRUCTING THE INSTITUTIONAL GENETIC VARIANT BASE AND THE FIRST IN THE COUNTRY

SOLANO AR; CARDOSO FC; POLETTA F; ROMANO V; QUIROGA F; LOPEZ CAMELO J; MANDO M

Congreso; HGM Congress; 2015

Genetic databases are mostly generated in the first world and reflect the population analyzed. Since 1996 we studied patients with family history of cancer; this data is the first in Argentina and in South America. We found novel variants, clinically: benign, uncertain or deleterious, surprisingly, even after more than 1700 causal mutations listed in the Breast Cancer Information Core (BIC). Our purpose is to present a summary of our results in germline mutations and the in silico analysis.