title: Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.
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.
authors: Molecular Diagnostics Laboratory, I/R-RP, National Center for Scientific Research "Demokritos", Athens, Greece.
authors: Irene
authors: I
authors: Konstantopoulou
authors: Theodore
authors: T
authors: Rampias
authors: Angela
authors: A
authors: Ladopoulou
authors: George
authors: G
authors: Koutsodontis
authors: Sophia
authors: S
authors: Armaou
authors: Theodore
authors: T
authors: Anagnostopoulos
authors: George
authors: G
authors: Nikolopoulos
authors: Smaragda
authors: S
authors: Kamakari
authors: George
authors: G
authors: Nounesis
authors: Antonis
authors: A
authors: Stylianakis
authors: Charisios
authors: C
authors: Karanikiotis
authors: Evangelia
authors: E
authors: Razis
authors: Helen
authors: H
authors: Gogas
authors: Antonios
authors: A
authors: Keramopoulos
authors: Vassiliki
authors: V
authors: Gaki
authors: Christos
authors: C
authors: Markopoulos
authors: Dimosthenis
authors: D
authors: Skarlos
authors: Nikos
authors: N
authors: Pandis
authors: Thalia
authors: T
authors: Bei
authors: Iordanis
authors: I
authors: Arzimanoglou
authors: George
authors: G
authors: Fountzilas
authors: Drakoulis
authors: D
authors: Yannoukakos
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D003362:Cost-Benefit Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006115:Greece; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*