Article

High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland.

Department of Biology and Genetics, Medical University of Gdansk, Poland.
Gynecologic Oncology (impact factor: 3.89). 03/2008; 108(2):433-7. DOI:10.1016/j.ygyno.2007.09.035
Source: PubMed

ABSTRACT 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.

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Keywords

151 consecutive primary ovarian cancer patients
 
BRCA1
 
BRCA1/2 carriers
 
BRCA1/2 germline mutations
 
BRCA2 genes
 
clinicopathological features
 
consecutive ovarian cancers
 
correlated
 
ovarian carcinoma
 
positive family history
 
prevalence
 
recurrent BRCA mutations
 
sporadic cases
 
unselected ovarian cancer patients
 
women