European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Cancer genetics
ania, 3 The Institute of Oncology Vilnius University, Vilnius, Lithuania.
The germline mutations in the BRCA1 and BRCA2 genes account for
the majority of hereditary breast and ovarian cancers. We present our
approach for the adaptation of hereditary breast/ovarian cancer genetic
counselling and testing service in Lithuania. In the year 2006 we
developed strict referral criteria for high/moderate-risk patients.
During appointment detailed three-generation genealogy is collected;
pathological records are verified; genetic and risk information is communicated;
availability of genetic testing and its limitations are discussed;
informed consent is obtained; management and supportive
options are provided.
BRCA1 testing is initiated with direct sequencing for three common
mutations (c.4153delA, c.5382insC, c.300T/G), recently reported
in Baltic and Slavic populations. 11 female patients diagnosed with
breast cancer (