Publications by authors named "Karolina Malinska"
The current cancer testing gene panels tend to be comprehensive rather than site-specific. is one of the genes commonly included in the multi-cancer testing panels. Mutations in confer an increase in the risk for breast cancer, but it is not studied whether or not they predispose to prostate cancer.
View Article and Find Full Text PDFMelanoma is one of the most aggressive human malignancies. The determination of prognostic biomarkers is important for the early detection of recurrence and for the enrollment of the patients into different treatment regimens. Herein, we report the 10-year survival of 375 melanoma patients depending on their serum selenium levels.
View Article and Find Full Text PDFEvaluation of the prevalence of POT1, ACD, and TERF2IP mutations among Polish melanoma patients. A cohort of 60 patients from melanoma-prone families, 1500 unselected cases and 1500 controls were genotyped. Methodology included Sanger sequencing, in-silico software predilection, and TaqMan assays.
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- * Researchers analyzed a group of 100 women with early breast cancer, discovering four specific pathogenic mutations, which were not found in a larger group of younger breast cancer patients or a control group of healthy women.
- * The conclusion highlights that 4% of early-onset Polish breast cancer patients had these harmful TP53 variants, recommending genetic testing for all women diagnosed with breast cancer before age 30 to enhance treatment and screening strategies.
Article Synopsis
- A study identified twenty recurrent mutations in six genes associated with breast cancer risk among Polish women diagnosed with breast cancer before age 41.
- Out of 2464 women tested, 17% had mutations in one of those genes, with the highest rates found in younger patients and those with a family history of breast cancer.
- The majority of identified mutations were in the BRCA1 and BRCA2 genes, suggesting that genetic testing for these mutations is advisable for all women diagnosed with breast cancer at age 40 or younger.
The association of BRCA1/2 mutations with melanoma is not completely determined; the interpretation of variants of unknown significance is also problematic. To evaluate these issues we explored the molecular basis of melanoma risk by performing whole-exome sequencing on a cohort of 96 unrelated Polish early-onset melanoma patients and targeted sequencing of BRCA1/2 genes on additional 30 melanoma patients with familial aggregation of breast and other cancers. Sequencing was performed on peripheral blood.
View Article and Find Full Text PDFPurpose: Germline mutations within melanoma susceptibility genes are present only in minority of melanoma patients and it is expected that additional genes will be discovered with next generation sequence technology and whole-exome sequencing (WES).
Materials And Methods: Herein we performed WES on a cohort of 96 unrelated Polish patients with melanoma diagnosed under the age of 40 years who all screened negative for the presence of CDKN2Avariants. A replication study using a set of 1,200 melanoma patient DNA samples and similarly large series of healthy controls was undertaken.
It has been compared behaviour of wholesome adolescents (14-17 years old) in this study, the healthy and suffering from epilepsy and headache. The IZZ and LKZ research methods have been used. The research group has been divided according to sex and age.
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