Katarzyna Lamperska

Publications (6)10.12 Total impact

• Article: Primary resistance to docetaxel-based chemotherapy in metastatic breast cancer patients correlates with a high frequency of BRCA1 mutations.

  Piotr J Wysocki, Konstanty Korski, Katarzyna Lamperska, Jerzy Zaluski, Andrzej Mackiewicz
  [show abstract] [hide abstract]
  ABSTRACT: Docetaxel is a member of the taxoid anticancer agents routinely used in the treatment of high-risk or metastatic breast cancer. A recent study demonstrated that a low response rate to taxane-based neoadjuvant chemotherapy is associated with BRCA1 mutations. Therefore the frequency of BRCA1 mutations in a population of metastatic docetaxel-refractory patients was analyzed. Nineteen treatment-refractory patients were selected from a group of 175 metastatic breast cancer patients treated with docetaxel-based therapy. DNA isolated from blood or from paraffin-embedded tissue samples was screened for three founder mutations common (>80%) in the Polish population. Additionally, the frequency of BRCA1 mutations was compared with the particular phenotype of breast cancer cells. BRCA1 mutations were found in 5 of the 19 of patients (26.3%), all 5 being of the 7 patients with triple-negative breast cancer (71%, p<0.002). This study indicates that the administration of taxanes, especially docetaxel, to metastatic BRCA1 breast cancer patients requires consideration. Moreover, BRCA1 testing in triple-negative breast cancer patients resistant to docetaxel-based treatment may help to identify families with germinal mutations without a history of hereditary breast cancer.
  Medical science monitor: international medical journal of experimental and clinical research 07/2008; 14(7):SC7-10. · 1.70 Impact Factor
• Article: Hereditary ovarian cancer in Poland.

  Janusz Menkiszak, Jacek Gronwald, Bohdan Górski, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Małgorzata Foszczyńska-Kłoda, Olga Haus, Hanna Janiszewska, Magdalena Perkowska, [......], Katarzyna Lamperska, Elwira Strózyk, Dariusz Godlewski, Małgorzata Stawicka, Bernard Waśko, Marek Bebenek, Andrzej Rozmiarek, Izabella Rzepka-Górska, Steven A Narod, Jan Lubiński
  [show abstract] [hide abstract]
  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
• Source

  Available from: Eliza Kwiatkowska-Borowczyk

  Article: Analysis of mutations in the p16/CDKN2A gene in sporadic and familial melanoma in the Polish population.

  Katarzyna Lamperska, Aldona Karezewska, Eliza Kwiatkowska, Andrzej Mackiewicz
  [show abstract] [hide abstract]
  ABSTRACT: Mutations in CDKN2A have been found in sporadic cutaneous malignant (CMM), in familial CMM and in other syndromes associated with melanoma. In this study DNA was obtained from 207 individuals and five cell lines. There were 157 CMM patients and 50 healthy members of melanoma patients families. The CMM group included patients with one or two melanoma cases in the family, families with dysplastic nevus syndrom (DNS) and patients with a spectrum of other types of cancers in the family. PCR-SSCP analysis and sequencing identified: six substitutions in codon 58 CGA/TGA (Arg/Stop), 16 substitutions GAC/GAT in codon 84 (Asp/Asp), six substitutions CGA/TGA in codon 148 (Arg/Thr), 14 substitutions G/C in 3'UTR and 4 double changes (two in codon 84 and 3'UTR; two in codon 148 and 3'UTR). The mutation identified in codon 58 was found in tissue only. Other substitutions were polymorphisms found in DNA from tissue and blood samples. Most of them were identified in sporadic CMM (six in codon 148 Ala/Thr, 12 in codon 84 Asp/Asp and six in 3'UTR). The frequency of the polymorphisms was also high in DNS and CMM/DNS families (four in codon 84 Asp/Asp and six in 3'UTR). No mutations or polymorphisms were found in CMM patients with one or two melanoma cases and CMM patients, with other cancers in family history. The analysis of the CDKN2A gene mutations in the Polish population demonstrated: (i) no germline mutations; (ii) a relatively high number of genetic changes in sporadic melanoma; (iii) a high number of polymorphisms in DNS and CMM/DNS families.
  Acta biochimica Polonica 02/2002; 49(2):369-76. · 1.49 Impact Factor
• Source

  Available from: Eliza Kwiatkowska-Borowczyk

  Article: Expression of p16 in sporadic primary uveal melanoma.

  Katarzyna Lamperska, Krystyna Mackiewicz, Aldona Kaczmarek, Eliza Kwiatkowska, Maria Starzycka, Bozena Romanowska, Janina Heizman, Jerzy Stachura, Andrzej Mackiewicz
  [show abstract] [hide abstract]
  ABSTRACT: Expression of p16 protein, intragenic mutations of CDKN2A and hypermethylation of CDKN2A promoter region in 41 sporadic primary uveal melanomas were studied. There were 2 cases of spindle cell B histological type, 11 of A + B and 28 of mixed type. All melanomas infiltrated sclera but in 28 cases infiltration was superficial while in 13 profound. In 7 cases the tumor infiltrated the optic nerve. Expression of p16 was studied by immunohistochemistry and recorded by assessment of the proportion of positive tumor cells and staining intensity. Results were expressed as staining index (IRS). Intragenic mutations were studied by PCR-SSCP followed by sequencing, while hypermethylation of the promoter region by CpG methylation assay. In 15% of cases less than 10% of melanoma cells were p16 positive, in 70% of cases less than 50% of cells, while in 7% more than 80% of cells stained for p16 (mean IRS for all cases was 4.87 +/- 2.43). In B type the IRS was 8.5 +/- 0.7, in A + B type 6.0 +/- 2.1 and in the mixed type 4.17 +/- 2.43 (differences statistically significant). In melanomas profoundly infiltrating sclera mean IRS was 4.16, while in those infiltrating optic nerve 3.71 (statistically not significant). Analysis of the intragenic mutations revealed in two patients a GAC/GAT substitution in codon 84--a silent mutation. No hypermethylation of the CpG island of the p16 promoter region was found. In conclusion, we found that the degree of p16 expression is related to the histological type of tumor but not to the histological indicators of tumor invasiveness and that intragenic mutations and promoter hypermethylation are not major mechanisms of p16 inactivation in sporadic uveal melanoma.
  Acta biochimica Polonica 02/2002; 49(2):377-85. · 1.49 Impact Factor
• Article: [P53 and P16 gene mutations in non-small cell lung cancer].

  Ewa Jassem, Rodryg Ramlau, Rafał Dziadziuszko, Amelia Szymanowska, Joanna Jakóbkiewicz, Katarzyna Lamperska, Grazyna Kobierska, Jan Skokowski, Wojciech Dyszkiewicz, Andrzej Mackiewicz, Maciej Zylicz, Jacek Jassem
  [show abstract] [hide abstract]
  ABSTRACT: The aim of this study was to assess prospectively the occurrence of p53 and p16 mutations (considered separately and together) in NSCLC in terms of their clinical and prognostic relevance. Study group included 87 patients who underwent pulmonary resection for cure. p53 and p16 mutations were found in 22 (25%) and 14 (16%) cases, respectively. In eight patients (9%) both mutations were present, and the tendency for their common occurrence was significant (p = 0.02). There was no relation between mutation and clinical characteristics. Median survival in the entire group was 17 months and the 3-year survival probability--41%. There was no correlation between the occurrence of any mutation (considered separately or together) and survival. These results indicate that p53 and p16 gene mutations tend to occur together in NSCLC, however these alterations seem not to have noteworthy clinical and prognostic significance.
  Pneumonologia i alergologia polska: organ Polskiego Towarzystwa Ftyzjopneumonologicznego, Polskiego Towarzystwa Alergologicznego, i Instytutu Gruzlicy i Chorob Pluc 02/2002; 70(1-2):64-70.
• Article: [Analysis of mutations within the TP53 gene in patients with squamous cell carcinoma of the head and neck].

  Paweł Golusinski, Katarzyna Lamperska, Jakub Pazdrowski, Wojciech Golusinski
  [show abstract] [hide abstract]
  ABSTRACT: Head and neck cancer is the sixth most common type of cancer. Tobacco and alcohol consumption are implicated in 75% of all SCCHN and have a multiplicative combined effect. It is considered to be the main risk factor for the cancer development. The identification of a number of these genetic alterations, for example mutations in the p53 tumour suppressor gene, paved the way for their use as molecular markers. Mutations in the TP53 gene frequently occur in many cancers and are present in 50-60% of head and neck cancers, p53 plays a sentinel role in the pathways that prevent development of cancer by inducing apoptosis, DNA repair and cell cycle arrest in response to different types of cellular stress The aim of the study, was the assessment of the TP53 mutations prevalence in the head and neck cancer patients and it's relation with the clinical data and course of the disease. The material comprised of peripheral blood and tumour tissue obtained from 50 HNSCC patients with a primary tumour in the oral cavity, oropharynx or larynx, who were scheduled for surgical treatment. The mutations in TP53, were detected with use of PCR-SSCP technique. In total 8 patients (16%), showed TP53 mutation in primary tumour. The significant correlation between tobacco and alcohol consumption and the mutation incidence has been observed. The site of the tumour and histopathological grading were also related to the prevalence of mutations, however without reaching the level of statistical significance. There was no correlation between mutations and the T and N stage of the disease.
  Otolaryngologia polska. The Polish otolaryngology 65(2):114-21.