Kiechle M, Gross E, Schwarz-Boeger U, Pfisterer J, Jonat W, Gerber W D, Albacht B, Fischer B, Schlegelberger B, Arnold N
Department of Gynecology and Obstetrics, University of Kiel, Germany.
Hum Mutat. 2000 Dec;16(6):529-30. doi: 10.1002/1098-1004(200012)16:6<529::AID-HUMU14>3.0.CO;2-K.
Germline mutations in the BRCA1 and BRCA2 gene account for the majority of high-risk breast/ovarian cancer families. We have screened such families from Northern Germany by using DHPLC analysis and subsequent direct sequencing techniques. In ten families we identified six novel BRCA1 and 4 novel BRCA2 mutations comprising four frame shift mutations, one nonsense and one splice site mutation in the BRCA1 gene as well as three frameshift mutations and one nonsense mutation in the BRCA2 gene. Our analysis contributes to the further characterisation of the mutational spectrum of BRCA1 and BRCA2.
BRCA1和BRCA2基因的种系突变是大多数高危乳腺癌/卵巢癌家族的病因。我们通过变性高效液相色谱（DHPLC）分析和随后的直接测序技术，对来自德国北部的此类家族进行了筛查。在10个家族中，我们鉴定出6个新的BRCA1突变和4个新的BRCA2突变，其中包括BRCA1基因中的4个移码突变、1个无义突变和1个剪接位点突变，以及BRCA2基因中的3个移码突变和1个无义突变。我们的分析有助于进一步明确BRCA1和BRCA2的突变谱。
