Mutation screening of breast cancer susceptibility genes in Chinese high-risk families: the results will develop the genetic testing strategy in China.

摘要: Inactivating mutations in 10 different genes pathways critical to genomic integrity have been confirmed be associated with inherited breast cancer ethnic groups [1]. We conducted a large-scale and systemic mutation analysis of BRCA1, BRCA2, p53, BRIP1, PALB2 CHEK2 c.1100delC among 591 patients early-onset (B35 years) or affected relatives China within 4 years, the results contributed development genetic testing strategy Chinese high-risk families. All included individuals were collected from six medical centers located southern northern China, genetically independent Han Chinese. A total 550 unrelated analyzed for BRCA1 BRCA2 mutations. The frequency BRCA1/2 population was 9.45%, 7.5% 13.4% familial patients. When those both concerned, up 22.8%. also observed that family history ovarian gastric cancer, incidence about twice more as without reporting these malignancies. two recurrent identified our study, 1100delAT 5589del8, accounted 33.3% (8/24) deleterious gene, haplotype indicated there might some degree shared ancestry [2]. Among 240 non-BRCA1/2 phenotype Li-Fraumeni syndrome (LFS) Li-Fraumeni-like (LFL), we detected novel germ line (563T[C 643_660del18) neither which appeared 768 normal controls. Functional assays revealed they should increasing risk [3]. BRIP1 recently susceptibility genes, can colocalize respectively, at sites DNA damage, then contribute their repair function In analysis, truncating PALB2, 751C[T 1050_1051delAAinsTCT, three wild-type sequences (1% series), mutation. found exon 44.1% (15/34) person-times carrying any variant gene [4]. did not detect protein-truncated except nonsynonymous (2971C[G, resulting Q944E) [5]. Truncating allele 1100delC has 0.002-0.005 Europe populations, but demonstrate presence 114 studied [6]. At present, view much evidence terms implications management BRCA carriers, current still limits is growing status may influence treatment recommendations [7]. Genetic become standard care option appropriately selected developed countries [8], while little recognized. Recent trends show A-Y. Cao Z. Hu Z.-M. Shao (&) Breast Cancer Institute, Hospital/Cancer Department Oncology, Shanghai Medical College, Fudan University, 270 Dong’an Road, 200032 Shanghai, People’s Republic e-mail: zhimingshao@yahoo.com