| Affiliation: | (1) Molecular Diagnostics Laboratory, I/R-RP, National Center for Scientific Research “Demokritos”, Athens, Greece;(2) BioGenomica, Centre for Genetic Research & Analysis, Athens, Greece;(3) KAT Hospital, Athens, Greece;(4) Department of Medical Oncology, 424 Army General Hospital, Thessaloniki, Greece;(5) Diagnostic and Therapeutic Centre of Athens HYGEIA, Athens, Greece;(6) First Department of Internal Medicine, University of Athens, Athens, Greece;(7) Breast Cancer Unit, Iaso Women’s Hospital, Maroussi, Greece;(8) Hellenic Breast Surgeons Society, Athens, Greece;(9) 2nd Oncology Department, Henri Dunant Hospital, Athens, Greece;(10) Department of Genetics, Saint Savvas Anticancer Hospital, Athens, Greece;(11) Instiute of Human Genetics, University of Aarhus, Aarhus, Denmark;(12) Department of Medical Oncology, “Papageorgiou” Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece;(13) Hellenic Cooperative Oncology Group, Athens, Greece |
| Abstract: | 127 Greek breast/ovarian cancer families were screened for germline BRCA1/2 mutations by dHPLC followed by direct sequencing. Our results indicated 16 and 5 breast/ovarian cancer families bearing deleterious mutations in the BRCA1 and BRCA2 genes, respectively. Two novel BRCA2 germline mutations (G4X and 3783del10) are reported here for the first time. Subsequent compilation of our present findings with previously reported mutation data reveals that in a total of 287 Greek breast/ovarian cancer families, 46 and 13 carry a deleterious mutation in BRCA1 and BRCA2, respectively. It should be noted that two BRCA1 mutations, 5382insC and G1738R, both located in exon 20, account for 46% of the families found to carry a mutation. Based on our mutation analysis results, we propose here a hierarchical, cost-effective BRCA1/2 mutation screening protocol for individuals of Greek ethnic origin. The suggested protocol can impact on the clinical management of breast-ovarian cancer families on a national healthcare system level. Irene Konstantopoulou and Theodore Rampias equally contributed to this work. |
