Publications (17)54.45 Total impact
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Article: Genital malignant tumors and precancerous conditions in female carriers of constitutional BRCA1 gene mutations undergoing prophylactic adnexectomy.
Current Gynecologic Oncology. 12/2012; 12(4):270-285. -
Article: Association of common WRAP 53 variant with ovarian cancer risk in the Polish population.
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ABSTRACT: Among many alterations within the TP53 gene the rs1042522 (C72G, p.Pro72Arg) has been associated with numerous cancers , however the results differ between populations for opposite Pro or Arg alleles. Similar thus inconclusive results are observed in ovarian cancer, which may suggest that the rs1042522 does not influence ovarian carcinogensis directly, but might be linked to another pathogenic alteration. WRAP53 which overlaps the TP53 is required to maintain normal levels of p53 upon DNA damage, but also when altered may independently increase the risk of cancer. To evaluate the association between three SNPs located in WRAP53-TP53 region: rs1042522, rs2287497, rs2287498 and ovarian cancer risk in Polish population we genotyped 626 cases and 1,045 healthy controls. Our results provide the evidence for an association between studied SNPs and a risk of invasive ovarian cancer in Poland. We found that CC homozygotes in rs1042522 were more frequent in cancers when compared to controls (OR = 1.46, p = 0.03). Similarly in WRAP53 both TT homozygotes in rs2287497 (OR = 1.95, p = 0.03) and AA homozygotes in rs2287498 (OR = 2.65, p = 0,01) were more frequent among cases than healthy individuals. There is also a suggestive evidence that specific homozygosity of studied SNPs in TP53-WRAP53 region is significantly overrepresented in ovarian cancer patients. In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association with an ovarian cancer risk than rs1042522 in TP53.Molecular Biology Reports 11/2012; · 2.93 Impact Factor -
Article: The HOXB13 p.Gly84Glu mutation is not associated with the risk of breast cancer.
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ABSTRACT: Recently, the HOXB13 gene has been shown to be a susceptibility gene for prostate cancer. HOXB13 is overexpressed in breast cancer tissues and HOXB13 expression in combination with low expression of IL17BR is predictive for a tamoxifen response in ER-positive breast cancers. Based on observations, we hypothesized that the HOXB13 p.Gly84Glu mutation might be associated with breast cancer risk. We genotyped this mutation in the germline DNA of 4,037 women with breast cancer (including 1,082 familial cases) and in 2,762 controls from Canada and Poland. Seven heterozygous carriers of the HOXB13 p.Gly84Glu mutation were found in the cases (0.17 %) compared to four carriers among the controls (0.14 %; OR = 1.2, 95 % CI = 0.34-4.1, p = 1.0). Only one of the seven carriers had a family history of breast cancer. This study does not support the hypothesis that women who carry the HOXB13 Gly84Glu mutation are at increased risk of breast cancer.Breast Cancer Research and Treatment 10/2012; · 4.43 Impact Factor -
Article: BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms.
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ABSTRACT: Polymorphisms in genes involved in DNA repair, steroid hormone biosynthesis/metabolism/signaling, folate metabolism as well as cell growth are prime candidates for possible associations with breast and ovarian cancer risk in women with an inherited predisposition. We investigated 29 polymorphisms in 20 genes encoding key proteins of the above four biological pathways for their breast and ovarian cancer risk modifying effect in Polish women harboring BRCA1 founder mutations. Of the analyzed genes, ERCC2, XRCC1, XRCC2, XRCC3 and Lig4 participate in DNA repair, TP53 in cell cycle check point control, AIB1, AR, COMT, CYP11A1, CYP17A1, CYP19A1, HSD17 and PGR in steroid hormone biosynthesis/metabolism/signaling, TYMS in folate metabolism and HER2, IL6, LRP1, TGFB and TGFBR1 affect cell growth. Using validated methods, we genotyped 319 breast cancer cases, 146 ovarian cancer cases and 290 unaffected controls, all of whom harbored one of three causative mutations in BRCA1. Our results revealed no association of any of the investigated polymorphisms with BRCA1-associated breast or ovarian cancer risk. Thus, it appears that these polymorphisms do not influence disease risk in Polish women carrying one of the three common BRCA1 founder mutations.Breast Cancer Research and Treatment 05/2009; 119(1):201-11. · 4.43 Impact Factor -
Article: Hereditary breast and ovarian cancer.
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ABSTRACT: :Hereditary Cancer in Clinical Practice 01/2008; 6(2):88-98. · 1.68 Impact Factor -
Article: Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism.
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ABSTRACT: The variable penetrance of ovarian cancer in BRCA1 mutation carriers suggests that other genetic or environmental factors modify disease risk. The C to T transition in the 3' untranslated region of the prohibitin (PHB) gene alters mRNA function and has recently been shown to be associated with hereditary breast cancer risk in Polish women harbouring BRCA1 mutations. To investigate whether the PHB 3'UTR polymorphism also modifies hereditary ovarian cancer risk, we performed a case-control study among Polish women carrying one of the three common founder mutations (5382insC, 300 T > G, 4154delA) including 127 ovarian cases and 127 unaffected controls who had both breasts and ovaries intact. Controls were matched to cases by year of birth and BRCA1 mutation. Genotyping analysis was performed using PCR-based restriction fragment length polymorphism analysis. Odds ratios (OR) were calculated using conditional and penalized univariable and multivariable logistic regression. A comparison of the genotype frequencies between cases and controls revealed no association of the PHB 3'UTR _CT+TT genotypes with ovarian cancer risk (ORadj 1.34; 95% CI, 0.59-3.11). Our data suggest that the PHB 3'UTR polymorphism does not modify ovarian cancer risk in women carrying one of the three Polish BRCA1 founder mutations.BMC Cancer 01/2008; 8:90. · 3.01 Impact Factor -
Article: The VEGF_936_C>T 3'UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women.
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ABSTRACT: The vascular endothelial growth factor (VEGF) plays a crucial role in the initiation of angiogenesis, which is an important stage in tumor development. A functional 936_C>T polymorphism in the VEGF gene and its association with sporadic breast cancer risk has been analyzed in various studies yielding conflicting results. To analyze the role of this polymorphism in modifying hereditary breast and ovarian cancer risks, we conducted a case-control study and genotyped 755 Polish BRCA1 carriers, including 319 breast cancer cases, 146 ovarian cancer cases, and 290 unaffected controls. The results revealed an association of the CT+TT genotypes with a reduced breast cancer risk (OR(adj) 0.63, 95% CI, 0.41-0.98; OR(clustered) 0.63, 95% CI, 0.48-0.83), and a potential effect on ovarian cancer risk (OR(adj) 0.62, 95% CI, 0.33-1.18; OR(clustered) 0.62, 95% CI, 0.47-0.83). Thus, the 936_C>T polymorphism appears to modify disease risks in BRCA1 carriers.Cancer letters 12/2007; 262(1):71-6. · 4.86 Impact Factor -
Article: Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks.
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ABSTRACT: Methylenetetrahydrofolate reductase (MTHFR), a key regulatory enzyme in the metabolism of folate, is suspected to play a role in the etiology of cancer, via its effects on DNA methylation and nucleotide synthesis. In this study we have investigated the effect of two functional polymorphisms of the MTHFR gene, MTHFR_677_C > T and MTHFR_1298_A > C, on breast and ovarian cancer risk in Polish BRCA1 mutation carriers. The study included 319 breast cancer cases, 146 ovarian cancer cases and 290 controls unaffected by breast and ovarian cancer, in situ breast cancer or any other kind of cancer. Genotyping analysis was performed using polymerase chain reaction followed by restriction fragment length polymorphism analysis. Odds ratios (OR) were calculated using univariate and multivariate logistic regression taking into account a series of confounding variables that potentially could have biased any association. The results revealed that the MTHFR_677_C > T change was associated with an increased risk of breast and ovarian cancer. The MTHFR_1298_A > C polymorphism was only associated with a decrease in breast cancer risk. Together, it appears that functional polymorphisms in the MTHFR gene modify the risk of breast and may potentially alter the risk of ovarian cancer in women with an inherited predisposition.Breast Cancer Research and Treatment 09/2007; 104(3):299-308. · 4.43 Impact Factor -
Article: Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk.
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ABSTRACT: Integrins are heterodimeric transmembrane glycoproteins that function as key adhesion and cell signalling receptors. A functional polymorphism in the integrin beta3 subunit encoded by the ITGB3 gene, Leu33Pro, has been shown to modify a variety of traits of beta3-expressing cells. To analyse the role of this functional polymorphism in modifying BRCA1-associated ovarian and breast cancer risks, a case-control study was performed among Polish BRCA1 mutation carriers including 319 breast cancer cases, 146 ovarian cancer cases and 290 controls unaffected by breast and ovarian cancer, in situ breast cancer or any other kind of cancer. Genotyping analysis was performed using PCR-based restriction fragment length polymorphism analysis. Odds ratios were calculated using univariate and multivariate logistic regression, taking into account a series of confounding variables, including the presence of related study subjects, that potentially could have biased any association. The results revealed that the ITGB3_Leu33Pro polymorphism was associated with a 2.5-fold increased risk of ovarian cancer, whereas no association with breast cancer risk was found. Thus, it appears that the ITGB3_Leu33Pro polymorphism may potentially increase the risk of ovarian cancer in Polish women with an inherited BRCA1 mutation.Journal of Medical Genetics 07/2007; 44(6):408-11. · 6.36 Impact Factor -
Article: The RAD51 135 G>C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers.
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ABSTRACT: Breast and ovarian cancer penetrance in BRCA1 mutation carriers is estimated to be between 15% and 80% by age 70 years. At present, it is not possible to predict with any certainty who is most likely to develop disease or which age it will develop. Previous studies have tried to correlate the sites of BRCA1 mutations with disease risk; however, the results have not yielded any definitive association. An alternative explanation that could account for differences in the penetrance of BRCA1 mutations is the action of modifier genes. In this study, we have investigated the role of the RAD51_135_G>C polymorphism in breast and ovarian cancer case-control populations of Polish women who have been matched for BRCA1 mutation and year of birth. The results reveal that women who harbor the C allele have almost twice the reduction in breast and ovarian cancer risk compared with women who harbor only the G allele. These findings suggest that the effect of the RAD51 C allele is an important risk modifier for malignancies occurring on a background of BRCA1 mutations. In addition, we were able to show that the site of the BRCA1 mutation does not influence the effect of the RAD51 C allele, indicating that this polymorphism contributes to prevention of disease in BRCA1 carriers. In conclusion, the RAD51 C allele seems to protect against both breast and ovarian cancer in women harboring BRCA1 mutations.Cancer Epidemiology Biomarkers & Prevention 03/2007; 16(2):270-5. · 4.12 Impact Factor -
Article: A high proportion of founder BRCA1 mutations in Polish breast cancer families.
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ABSTRACT: Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast-ovarian cancer families. It is not known, however, to what extent these 3 founder mutations account for all of the BRCA mutations distributed throughout the country. This question has important implications for health policy and the design of epidemiologic studies. To establish the relative contributions of founder and nonfounder BRCA mutations, we established the entire spectrum of BRCA1 and BRCA2 mutations in a large set of breast-ovarian cancer families with origins in all regions of Poland. We sequenced the entire coding regions of the BRCA1 and BRCA2 genes in 100 Polish families with 3 or more cases of breast cancer and in 100 families with cases of both breast and ovarian cancer. A mutation in BRCA1 or BRCA2 was detected in 66% of breast cancer families and in 63% of breast-ovarian cancer families. Of 129 mutations, 122 (94.6%) were in BRCA1 and 7 (5.4%) were in BRCA2. Of the 122 families with BRCA1 mutations, 119 (97.5%) had a recurrent mutation (i.e., one that was seen in at least 2 families). In particular, 111 families (91.0%) carried one of the 3 common founder mutations. The mutation spectrum was not different between families with and without ovarian cancer. These findings suggest that a rapid and inexpensive assay directed at identifying the 3 common founder mutations will have a sensitivity of 86% compared to a much more costly and labor-intensive full-sequence analysis of both genes. This rapid test will facilitate large-scale national epidemiologic and clinical studies of hereditary breast cancer, potentially including studies of chemoprevention.International Journal of Cancer 08/2004; 110(5):683-6. · 5.44 Impact Factor -
Article: Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations.
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ABSTRACT: The study aimed to determine whether hereditary ovarian cancers that are not caused by BRCA1/BRCA2 constitutional mutations are associated with a predisposition to cystadenoma. The study consisted of two parts. Part one concerned the incidence of ovarian cystadenoma in females from families with hereditary ovarian cancer unassociated with BRCA1 mutations. The study group included 62 female patients from 29 families, without any previously diagnosed malignancy, with no proven constitutional mutation of the BRCA1 gene. The first control group was composed of 62 female patients from 53 families, without any previously diagnosed malignancy, with an identified constitutional mutation of the BRCA1 gene. The second control group comprised 124 female patients for whom the only reason for the examination was a prophylactic check-up. All studied women were subjected to intravaginal ultra- sonographic investigations. In 8 patients with benign and/or borderline ovarian cystadenoma, a complete sequencing of coding fragments of the BRCA2 gene from the peripheral blood DNA was performed. Part two of this study concerned the incidence and pattern of malignant tumors in the families of female patients with ovarian cystadenoma. The final study group included 117 patients who had 726 I0 relatives (359 females and 367 males). We concluded that cystadenoma is likely to be a characteristic feature of the subgroup of families with hereditary ovarian cancers unassociated with BRCA1/BRCA2 constitutional mutations.Journal of applied genetics 02/2004; 45(2):255-63. · 1.66 Impact Factor -
Article: A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer
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ABSTRACT: Germ-line mutations in the BRCA2 gene are associated with a wide range of cancer types, including the breast, ovary, pancreas, prostate and melanoma. In this study, we evaluated the importance of a family history of stomach cancer in predicting the presence of a BRCA2 mutation in Polish patients with ovarian cancer. A BRCA2 mutation was found in eight of 34 women with ovarian cancer and a family history of stomach cancer versus three of 75 women with ovarian cancer and a family history of ovarian cancer, but not of stomach cancer (odds ratio=7.4; 95% CI 1.8–30; P=0.004). The results of this study suggest that, in the Polish population, the constellation of ovarian and stomach cancer predicts the presence of a germ-line BRCA2 mutation and confirms that stomach cancer is part of the spectrum of BRCA2 mutations. It is expected that the penetrance of BRCA2 mutations for stomach cancer will vary from country to country, reflecting local environmental and lifestyle factors.Keywords: BRCA2 gene, mutation, stomach cancer, ovarian cancerEuropean Journal of HumanGenetics 11/2003; 11(12):955-958. · 4.40 Impact Factor -
Article: Hereditary ovarian cancer in Poland.
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ABSTRACT: There is increasing evidence that hereditary factors play a greater role in ovarian cancer than in any of the other common cancers of adulthood. This is attributable, to a large extent, to a high frequency of mutations in the BRCA1 or BRCA2 genes. In Poland, 3 common founder mutations in BRCA1 account for the majority of families with identified BRCA mutations. Our study was conducted in order to estimate the prevalence of any of 3 founder BRCA1 mutations (5382insC, C61G and 4153delA) in 364 unselected women with ovarian cancer, and among 177 women with ovarian cancer and a family history of breast or ovarian cancer. A mutation was identified in 49 out of 364 unselected women with ovarian cancer (13.5%) and in 58 of 177 women with familial ovarian cancer (32.8%). The majority of women with ovarian cancer and a BRCA1 mutation have no family history of breast or ovarian cancer. The high frequency of BRCA1 mutations in Polish women with ovarian cancer supports the recommendation that all Polish women with ovarian cancer should be offered testing for genetic susceptibility, and that counseling services be made available to them and to their relatives. It is important that mutation surveys be conducted in other countries prior to the introduction of national genetic screening programs.International Journal of Cancer 11/2003; 106(6):942-5. · 5.44 Impact Factor -
Article: [Parovarian cysts--not always benign].
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ABSTRACT: The purpose of this study was to determinate the frequency, clinical aspects and management of epithelial parovarian neoplasms among patients hospitalised in our department. This work has a retrospective character. The research material composed of patients treated in our clinic in the years 1992-2001 because of adnexal mass. In clinical analysis of 13 cases with epithelial parovarian neoplasms we took account of age, symptoms, ultrasound investigations, CA 125 levels, family history, operative treatment, histopathological examinations and follow up. Among 1110 patients operated for of adnexal mass 19.21% constituted parovarian cysts, and 2.6% (13 cases) of them were epithelial neoplasms (11 benign cystadenomas and 2 borderline malignancy neoplasms in FIGO I). The mean age of patient was 42.1. The clinical presentation was lower abdominal pain. CA 125 had the normal range in all patients. In ultrasound investigation parovarian cysts was suspected only in 2 cases when both normal ovaries were apparent. All patients were operated and extension of surgical procedures depended firs of all on age. Two patients with borderline tumors were operated in 1998 and have lived ever since without signs of disease. Parovarian cysts are not always benign and broad ligament region may be the point of issue for neoplasms of different histopathological types.Ginekologia polska 12/2002; 73(11):1078-83. · 0.41 Impact Factor -
Article: [Characteristics of selected features of hereditary ovarian cancer in carriers of constitutional BRCA1 gene mutation].
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ABSTRACT: Hereditary ovarian cancer in BRCA1 constitutional mutation carriers shows a characteristic clinical pattern. Evaluation of the type of mutation, age of onset, clinical stage (FIGO) and morphological grade (G) of ovarian cancers in BRCA1 mutation carriers. We analyzed 16 cases of hereditary ovarian cancers from 14 families. The cases were included into studied group as a result of evaluation of pedigree criteria and molecular-genetic analyses detecting constitutional mutation--5382insC, C61G, 4153delA--founder mutations dominating the Polish population. The following features were compared between studied and control group: C1--age of onset of ovarian cancer in 5-year intervals (below 35, 40, 45, 50 and 55 years of age); C2--clinical staging (FIGO) I/II or III/IV: C3--grading (G1-G3). The data were analyzed statistically. Age of onset < 50, OR--2.52 is highly characteristic for BRCA1 mutation carries. Similarly the staging III/IV is more often observed in studied group--OR 2.71. The most characteristic of studied group is high morphological grading--OR 12.38. 1. Features of HOC in studied material and in other populations are similar 2. High morphological grading is the most characteristic for HOC in BRCA1 carriers.Ginekologia polska 12/2002; 73(11):1084-9. · 0.41 Impact Factor -
Article: Clinical characteristics of hereditary ovarian cancer (HOC) in Poland.
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ABSTRACT: Hereditary ovarian cancer (HOC), as any genetic disease, may display clinical characteristics that depends on population. The aim of the study was to describe clinical characteristics of HOC in Polish population basing on analysis of the following features: age at onset, clinical staging, morphological grading and prevalence of serous adenocarcinoma. The cases were selected basing on analysis of pedigree/clinical features and molecular studies of founder mutations of BRCA1 gene in Poland. The patient's age at diagnosis was ca 49-52 and was similar in all groups. The exception was the subgroup without mutations in group II (breast and ovarian cancers found in families) with mean age at diagnosis ca 46 years (n = 9). In patients with HOC without mutation of BRCA1 gene, lower FIGO stage and lower morphological grade were detected more frequently. The majority of HOC showed histopathological pattern of serous adenocarcinoma. Clinical features of HOC in Poland and in other countries are similar. 2. Introduction of DNA tests to the clinical and pedigree diagnostic criteria allows detection of subgroups of HOC with different clinical features.Ginekologia polska 10/2002; 73(9):733-9. · 0.41 Impact Factor
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2003–2009
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Pomeranian Medical University in Szczecin
Szczecin, West Pomeranian Voivodeship, Poland
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