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1

DNA adducts in environmental, occupational and life-style studies in human biomonitoring

100%

Hemminki K., Grzybowska E., Widłak P., Chorąży M.

Acta Biochimica Polonica

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1996

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vol. 43

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issue 2

305-312

2

The calcium binding properties and structure prediction of the Hax-1 protein

100%

Balcerak A., Rowinski S., Szafron L., Grzybowska E.

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2017

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vol. 64

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issue 3

537-542

EN

Hax-1 is a protein involved in regulation of different cellular processes, but its properties and exact mechanisms of action remain unknown. In this work, using purified, recombinant Hax-1 and by applying an in vitro autoradiography assay we have shown that this protein binds Ca2+. Additionally, we performed structure prediction analysis which shows that Hax-1 displays definitive structural features, such as two α-helices, short β-strands and four disordered segments.

3

Spectrum of Cancers Diagnosed in the Families Carrying Germline Mutation inBRCA 1/2Genes

100%

Budryk M., Tęcza K., Grzybowska E.

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issue 10

453-456

EN

The aim of the genetic tests and counseling done at the Centre of Oncology-MSC Institute in Gliwice is to screen for the carriers of germline mutations in BRCA1 and BRCA2 genes who belong to the group of high risk of developing malignancy.Material and methods. The risk of breast and/or ovary cancer among the carriers of germline mutations in BRCA1 and 2 genes is 40-90%. The patients are qualified to genetic test for HBOC syndrome not only according to the family history of cancers criteria which allow to find families with high risk of developing cancer.Results. At Genetic Counseling we find mutations in 5% of persons referred to genetic tests. Germline mutations were also found in families which did not meet clinical criteria for HBOC.Conclusion. These findings justify the need to screen for BRCA mutations also persons without strong family history of breast and ovary cancers.

4

Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population.

64%

Grzybowska E., Siemińska M., Zientek H., Kalinowska E., Michalska J., Utracka-Hutka B., Rogozińska-Szczepka J., Kaźmierczak-Maciejewska M.

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2002

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vol. 49

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issue 2

351-356

EN

Germline mutations in the BRCA1 or BRCA2 genes predispose their carriers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, using allele-specific amplification (ASA) PCR test. Fifteen carriers of three different mutations: 5382insC, 185delAG and C61G in BRCA1 were found. Two families carried the 185delAG mutation and additional two C61G in BRCA1. Nobody carried the mutation 4153delA in BRCA1 nor 6174delT or 9631delC in BRCA2. Most of the carriers of a germline mutation were observed among the patients who developed bilateral breast cancer (17%). The lowest frequency of the germline mutations was found in the healthy persons who had two or more relatives affected with breast or ovarian cancer.

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DNA adducts in environmental, occupational and life-style studies in human biomonitoring

The calcium binding properties and structure prediction of the Hax-1 protein

Spectrum of Cancers Diagnosed in the Families Carrying Germline Mutation inBRCA 1/2Genes

Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population.