High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland.
BACKGROUND
We estimated the prevalence of BRCA1/2 germline mutations in consecutive ovarian cancers and correlated the mutation status with clinicopathological features.


METHODS
151 consecutive primary ovarian cancer patients were screened for BRCA1/2 germline mutations.


RESULTS
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).


CONCLUSIONS
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.
Brozek
Izabela
I
Department of Biology and Genetics, Medical University of Gdansk, Poland.
Ochman
Karolina
K
Debniak
Jarosław
J
Morzuch
Lucyna
L
Ratajska
Magdalena
M
Stepnowska
Magdalena
M
Stukan
Maciej
M
Emerich
Janusz
J
Limon
Janusz
J
D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D011044:Poland