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

Brożek, Izabela; Ochman, Karolina; Dȩbniak, Jarosław; Morzuch, Lucyna; Ratajska, Magdalena; Stepnowska, Monika; Stukan, Maciej; Emerich, Janusz; Limon, Janusz

doi:10.1016/j.ygyno.2007.09.035

Cited by 51 publications

(47 citation statements)

References 22 publications

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“…Informed consent for the genetic analysis was obtained from all study subjects, and the study received the approval of the Ethics Committee review board of the Medical University of Gdañsk. BRCA1/2 mutations were previously revealed in 21 patients (14%), and were not found in the other 130 patients (Bro¿ek et al 2008). Among the 21 patients, we identified 17 BRCA1 and four BRCA2 mutation carriers.…”

Section: Introductionmentioning

confidence: 61%

“…The relatively high proportion of BRCA1/2 carriers among unselected ovarian cancer patients (Menkiszak et al 2003;Bro¿ek et al 2008) indicates that it is advisable to search for BRCA mutations in each case of ovarian carcinoma, despite the presence of LOH at BRCA1/2 loci. High frequency of LOH in sporadic cancer limits the predictive value of LOH at BRCA1/2 loci for germline mutation screening.…”

Section: Discussionmentioning

confidence: 99%

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Loss of heterozygosity atBRCA1/2 loci in hereditary and sporadic ovarian cancers

et al. 2009

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Loss of heterozygosity at BRCA1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respectively. Losses of all informative markers on chromosomes 17 and 13 occurred in 30 (19.9%) and 31 (20.5%) tumors, respectively. There was no difference in the frequency of losses at BRCA1 intragenic markers (D17S855 and D17S1323) between BRCA1-positive and BRCA1-negative patients. The frequency of losses on chromosome 17 was higher in high-grade than in low-grade carcinomas. Loss of heterozygosity on chromosomes 17 and 13q is a frequent phenomenon in both hereditary and sporadic ovarian cancers. The frequency of losses at BRCA1 intragenic markers in the ovarian tumor tissue is not strongly related to the presence of BRCA1 germline mutations.

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Section: Introductionmentioning

confidence: 61%

Section: Discussionmentioning

confidence: 99%

Loss of heterozygosity atBRCA1/2 loci in hereditary and sporadic ovarian cancers

et al. 2009

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“…In Belgium, de Leeneer et al tested 193 sporadic cases of breast and ovarian cancer for BRCA1/2, finding 3 carriers among 7 women with both breast and ovarian cancer (42.9%) but none among 6 patients with OC only [50]. In Poland, BRCA1/2 mutations were identified in 21 out of 151 consecutive OC patients (13.9%) [51], while in a sample of 74 Russian patients, the prevalence was as high as 19% [52]. In Korean OC patients, BRCA1/2 mutations were detected in 13 of 40 (33%) reporting a strong family history and in 23 of 283 (8%) without significant family history [53].…”

Section: Clinicopathological Features Of Brca-associated Ovarian Cmentioning

confidence: 99%

BRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management

Girolimetti

Perrone

Santini

et al. 2014

BioMed Research International

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Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are associated with mutations in BRCA1 and BRCA2 genes. The presence of a BRCA mutation in OC patients has been suggested as a prognostic and predictive factor. In addition, the identification of asymptomatic carriers of such mutations offers an unprecedented opportunity for OC prevention. This review is aimed at exploring the current knowledge on epidemiological and molecular aspects of BRCA-associated OC predisposition, on pathology and clinical behavior of OC occurring in BRCA mutation carriers, and on the available options for managing asymptomatic carriers.

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“…999del5 mutation detected in the Icelandic population increases the risk of breast cancer in men, female breast cancer, ovarian cancer and prostate cancer [42,43]. In the Polish population BRCA2 mutations also occur with high penetration, but they are rare, diverse and characterized by low reproducibility; among others they predispose to breast cancer in men, and breast and ovarian cancer in women [44][45][46][47][48].…”

Section: Brca2 Gene Mutationsmentioning

confidence: 99%