Rapid and easy detection of the five most common mutations in BRCA1 and BRCA2 genes in the Polish population using CAPS and ACRS-PCR methods

Dabrowski, Adam M.; Ułaszewski, Stanisław; Niedzwiecka, Katarzyna

doi:10.18388/abp.2018_2654

Cited by 5 publications

(4 citation statements)

References 22 publications

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“…Therefore, each of the diagnostic stages requires only basic laboratory equipment and low financial outlays. This way of obtaining results does not require further confirmation by sequencing the DNA of each patient [ 19 ]. The effectiveness and efficiency of the research presented by us is based on the careful design of appropriate primers and the precise selection of suitable restriction enzymes.…”

Section: Discussionmentioning

confidence: 99%

Analysis of CYP1B1 Polymorphisms in Lung Cancer Patients Using Novel, Quick and Easy Methods Based on CAPS and ACRS-PCR Techniques

Dąbrowski,

Nowicki,

Budzyńska

et al. 2024

IJMS

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Within the sequence of the CYP1B1 gene, more than 50 polymorphisms, resulting from single-nucleotide polymorphisms (SNPs), have been described. Some of them play an important role as specific genetic markers in the process of carcinogenesis and for therapeutic purposes. In this publication, we present methods we have developed that enable the specific and unambiguous identification of four polymorphisms that result in amino acid changes: c. 142C > G, c. 355G > T, c. 1294C > G, and c. 1358A > G. Our studies are based on cleaved amplified polymorphic sequences (CAPSs) and artificially created restriction site (ACRS) PCR techniques; therefore, they require only basic laboratory equipment and low financial outlays. Utilizing the described methods allows for the reduction of research time and cost, and the minimization of errors. Their effectiveness and efficiency depend on the careful design of appropriate primers and the precise selection of suitable restriction enzymes. As a result, further confirmation by sequencing is not necessary. Using the developed method, we examined 63 patients diagnosed with lung cancer and observed a 1.5 to 2.1 times higher frequency of the analyzed single-nucleotide polymorphisms compared to the frequency in the European population.

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Section: Discussionmentioning

confidence: 99%

Analysis of CYP1B1 Polymorphisms in Lung Cancer Patients Using Novel, Quick and Easy Methods Based on CAPS and ACRS-PCR Techniques

Dąbrowski,

Nowicki,

Budzyńska

et al. 2024

IJMS

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“…Studies seek to screen the most prevalent mutations **AD: Age of diagnosis (years) Mastology 2022;32:e20220003 in BRCA in order to reduce costs through a method that is faster and more efficient in detecting mutations in BRCA1 and BRCA2. This strategy would make it possible to include a greater number of investigated patients and a more accurate treatment, offering greater benefits to them 30 .…”

Section: Discussionmentioning

confidence: 99%

Overview of germline variants in the BRCA2 gene in cohort of Brazilian women with a high risk of hereditary breast cancer

et al. 2022

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Introduction: Malignant breast cancer is the second most common type of cancer among women in the world, leaving behind nonmelanoma skin cancer. The aim of this study was to identify germline variants in the BRCA1 and BRCA2 genes in women diagnosed with breast cancer in the southeastern region of Brazil. Methods: This study is part of a retrospective study, performed from a hospital-based cohort, consisting of 522 women. 92 patients were excluded from the study because they had carcinoma in situ and did not present clinical information, totaling 430 patients. Of these, we performed molecular investigation in 46 patients. BRCA2 variants were detected in 10/46 (22%) women. From 7 missense variants identified, 5 and 2 showed benign and uncertain significance, respectively. Two synonymous variants not previously reported were considered of uncertain significance (c.2622T>A; c.2721G>A), and one nonsense variant showed pathogenic clinical significance (c.2847T>A). Results: The results showed that gene sequencing in individuals with a high risk of hereditary cancer is necessary, as it may reveal new variants, or initially described with uncertain significance. Conclusion: Although this study was conducted with a small cohort of selected breast cancer patients, it reinforces the importance of investigating the Brazilian population due to the finding of the pathogenic variant and genetic counseling.

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“…Therefore, each of the diagnostic stages requires only basic laboratory equipment and low nancial outlays. This way of obtaining results does not require further con rmation by sequencing the DNA of each patient (Dąbrowski et al 2019). The effectiveness and e ciency of the research presented by us is based on the careful design of appropriate primers and precise selection of suitable restriction enzymes.…”

Section: Disscusionmentioning

confidence: 99%

Analysis of CYP1B1 polymorphisms in lung cancer patients using novel, quick and easy methods based on CAPS and ACRS-PCR techniques

Dąbrowski,

Nowicki,

Budzyńska

et al. 2023

Preprint

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Within the sequence of the CYP1B1 gene, more than 50 polymorphisms, resulting from single nucleotide changes (SNPs), have been described. Part of them play an important role as specific genetic markers in the process of carcinogenesis and for therapeutic purposes. In this publication, we present methods we have developed that enable specific and unambiguous identification of four polymorphisms that result in amino acid changes: c. 142C > G, c. 355G > T, c. 1294C > G, and c. 1358A > G. Our studies are based on CAPS and ACRS-PCR techniques, therefore they require only basic laboratory equipment and low financial outlays. Utilizing the described methods allows for the reduction of research time, cost, and the minimization of errors. Their effectiveness and efficiency depend on the careful design of appropriate primers and the precise selection of suitable restriction enzymes. As a result, further confirmation by sequencing is not necessary. Using the developed method, we examined 63 patients diagnosed with lung cancer and observed a 1.5 to 2.1 times higher frequency of the analyzed single nucleotide polymorphisms compared to the frequency in the European population. No correlation was found between the occurrence of the tested polymorphisms and the histopathological diagnosis or stage of cancer advancement.

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Rapid and easy detection of the five most common mutations in BRCA1 and BRCA2 genes in the Polish population using CAPS and ACRS-PCR methods

Cited by 5 publications

References 22 publications

Analysis of CYP1B1 Polymorphisms in Lung Cancer Patients Using Novel, Quick and Easy Methods Based on CAPS and ACRS-PCR Techniques

Analysis of CYP1B1 Polymorphisms in Lung Cancer Patients Using Novel, Quick and Easy Methods Based on CAPS and ACRS-PCR Techniques

Overview of germline variants in the BRCA2 gene in cohort of Brazilian women with a high risk of hereditary breast cancer

Analysis of CYP1B1 polymorphisms in lung cancer patients using novel, quick and easy methods based on CAPS and ACRS-PCR techniques

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