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.
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 cancerpatients 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 cancerpatients 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.
Authors: I Brozek; K Ochman; J Debniak; L Morzuch; M Ratajska; M Stepnowska; M Stukan; J Emerich; J Limon Journal: J Appl Genet Date: 2009 Impact factor: 3.240
Authors: Nicky Dekker; Eleonora B L van Dorst; Rob B van der Luijt; Marielle E van Gijn; Marc van Tuil; Johan A Offerhaus; Margreet G E M Ausems Journal: J Genet Couns Date: 2012-11-30 Impact factor: 2.537
Authors: Evgeny N Suspitsin; Nathalia Yu Sherina; Daria N Ponomariova; Anna P Sokolenko; Aglaya G Iyevleva; Tatyana V Gorodnova; Olga A Zaitseva; Olga S Yatsuk; Alexandr V Togo; Nathalia N Tkachenko; Grigory A Shiyanov; Oksana S Lobeiko; Nadezhda Yu Krylova; Dmitry E Matsko; Sergey Ya Maximov; Adel F Urmancheyeva; Nathalia V Porhanova; Evgeny N Imyanitov Journal: Hered Cancer Clin Pract Date: 2009-02-25 Impact factor: 2.857