Brozek Izabela, Ochman Karolina, Debniak Jarosław, Morzuch Lucyna, Ratajska Magdalena, Stepnowska Magdalena, Stukan Maciej, Emerich Janusz, Limon Janusz
Department of Biology and Genetics, Medical University of Gdansk, Poland.
Gynecol Oncol. 2008 Feb;108(2):433-7. doi: 10.1016/j.ygyno.2007.09.035. Epub 2007 Nov 7.
We estimated the prevalence of BRCA1/2 germline mutations in consecutive ovarian cancers and correlated the mutation status with clinicopathological features.
151 consecutive primary ovarian cancer patients were screened for BRCA1/2 germline mutations.
We identified BRCA1/2 germline mutations in 21 (13.9%) patients. Seventeen (81%) of carriers have BRCA1 and four (19%) have BRCA2 mutation. BRCA1/2 carriers have a distinctly longer overall survival than sporadic cases (log-rank, p=0.014).
The relatively high proportion of BRCA1/2 carriers among unselected ovarian cancer patients indicates the necessity of searching for recurrent BRCA mutations in each case of ovarian carcinoma. This routine screen should be widened to include denaturing high performance liquid chromatography (DHPLC) analysis of both exons 11 of BRCA1 and BRCA2 genes in women with positive family history.
我们评估了连续性卵巢癌中BRCA1/2种系突变的患病率，并将突变状态与临床病理特征相关联。
对151例连续性原发性卵巢癌患者进行BRCA1/2种系突变筛查。
我们在21例（13.9%）患者中鉴定出BRCA1/2种系突变。其中17例（81%）携带者有BRCA1突变，4例（19%）有BRCA2突变。BRCA1/2携带者的总生存期明显长于散发性病例（对数秩检验，p=0.014）。
在未经选择的卵巢癌患者中，BRCA1/2携带者比例相对较高，这表明在每例卵巢癌病例中寻找复发性BRCA突变的必要性。对于有阳性家族史的女性，这种常规筛查应扩大到包括对BRCA1和BRCA2基因第11外显子进行变性高效液相色谱（DHPLC）分析。
