Konstantopoulou Irene, Rampias Theodore, Ladopoulou Angela, Koutsodontis George, Armaou Sophia, Anagnostopoulos Theodore, Nikolopoulos George, Kamakari Smaragda, Nounesis George, Stylianakis Antonis, Karanikiotis Charisios, Razis Evangelia, Gogas Helen, Keramopoulos Antonios, Gaki Vassiliki, Markopoulos Christos, Skarlos Dimosthenis, Pandis Nikos, Bei Thalia, Arzimanoglou Iordanis, Fountzilas George, Yannoukakos Drakoulis
Molecular Diagnostics Laboratory, I/R-RP, National Center for Scientific Research "Demokritos", Athens, Greece.
Breast Cancer Res Treat. 2008 Feb;107(3):431-41. doi: 10.1007/s10549-007-9571-2. Epub 2007 Apr 24.
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.
通过变性高效液相色谱（dHPLC）随后直接测序，对127个希腊乳腺癌/卵巢癌家族进行种系BRCA1/2突变筛查。我们的结果表明，分别有16个和5个乳腺癌/卵巢癌家族在BRCA1和BRCA2基因中携带有害突变。本文首次报道了两个新的BRCA2种系突变（G4X和3783del10）。随后将我们目前的研究结果与先前报道的突变数据进行汇总，结果显示，在总共287个希腊乳腺癌/卵巢癌家族中，分别有46个和13个家族在BRCA1和BRCA2中携带有害突变。应当指出的是，位于外显子20的两个BRCA1突变，即5382insC和G1738R，占发现携带突变家族的46%。基于我们的突变分析结果，我们在此为希腊裔个体提出一种分级、具有成本效益的BRCA1/2突变筛查方案。所建议的方案可在国家医疗保健系统层面影响乳腺癌-卵巢癌家族的临床管理。
