We studied the effect of functionally significant polymorphic markers of the
ESR1
gene on the risk of breast cancer, tamoxifen resistance, and survival of patients with this type of cancer. The study ...included 239 primary breast cancer patients without distant metastases. The analysis of genotype frequency distribution for the studied
ESR1
gene polymorphic markers showed the association of the
rs2228480
and
rs2234693
markers with tamoxifen resistance in the group of patients with luminal B type breast cancer. An association of these two polymorphic markers with the risk of tumor development was also revealed; for
rs2234693
polymorphic marker, a relationship with the survival of patients was also showed.
Abstract
Preliminary results of optimization of the method of haploproducer
Zea mays
L. for hybrid genotypes of spring common wheat
Triticum aestivum
L. in order to create diploidized haploid lines ...and their integration into practical breeding are presented. Regularities of the regeneration of normal chlorophyll-bearing haploid plants and the dependence of the morphogenesis of haplo-embryoids in vitro on optimization factors of various genesis and their effectiveness on hybrids created on the basis of varieties of different ecological and geographical origin were revealed. It was found that the manifestation of the effect of heterosis contributes to an increase in the yield of haploid chlorophyll-bearing regenerants when receiving hybrids from parental forms with different responsiveness to androgenesis and haploproducing. The advantage of the ecological-geographical principle of selection of parental pairs in increasing the degree of responsiveness of hybrid genotypes of spring wheat to in vitro androgenesis and haploproducing is shown. The practical advantage of the haploproducer method in the F1 system of
T. aestivum - Z. mays
in comparison with the androgenesis method in the anther culture in vitro is a higher optimization potential in summa. In order to intensify the biotechnological breeding process, it is recommended to use the optimized method of the haploproducer -
Z. mays
, which provides for the cumulative twel-method of pollination with a mixture of pollen from maize lines with different haplo-producing properties (increasing the quantitative yield of haplo-embryos) and a hormone stimulation scheme with pretreatment of the spike material of the hybrids with epibrassinolide (increasing the degree of their differentiation), which in total makes it possible to significantly accelerate the creation of diploidized haploid lines, regardless of the influence of the genotype of the original hybrids.
We studied the association of polymorphic markers of cell cycle control genes (
Arg72Pro
of the
TP53
gene,
T(-410)G
of the
MDM2
gene, and
Ser31Arg
of the
CDKN1A
gene) in ovarian cancer and ...progression-free survival following platinum-based chemotherapy. Tumor tissue samples obtained from 49 patients who had undergone chemotherapy were examined. Patients received standard platinum-based chemotherapy and were observed until disease progression. Polymorphic markers of genes were evaluated by PCR-RFLP and real-time PCR. In patients carrying the
G
allele of the
T(-410)G
marker of the
MDM2
gene, a decreasing trend was observed in median progression-free survival. An increase in the median progression-free survival was observed in carriers of the
Pro
allele of the
TP53
gene (
p
=0.045). Furthermore, a stronger association was noted with carriers of the minor
Pro/Pro
homozygous genotype relative to the
Arg/Arg
genotype (
p
=0.007). In the subgroup of patients who underwent optimal or complete cytoreductive surgery, carriage of the minor
Arg
allele of the
Ser31Arg
marker (
CDN1A
gene) was associated with a decrease in the median progression-free survival time (
p
=0.004).
The distribution of allele frequencies of polymorphic markers of the genes of the apoptosis and cell cycle control system
TP53
(rs1042522),
MDM2
(rs2279744), and
CDKN1A
(rs1801270) was obtained. The ...relationship of these markers with the risk of ovarian cancer was analyzed in women of the Moscow region. The study included 70 healthy female donors and 66 patients with ovarian cancer. DNA isolated from the blood of healthy donors and tissue and blood of patients with ovarian cancer was studied. The polymorphic markers of genes were analyzed by real-time PCR with fluorescent allele-specific probes. In the work, the odds ratios (OR) of ovarian cancer risk were obtained: OR = 0.94, 95% CI = 0.57–1.65,
p
= 1.0 for the
Pro
allele of the
Arg72Pro
of the
TP53
gene; OR = 0.96, 95% CI = 0.49–1.89,
p
= 0.90 for the
G
allele of the
T
(
–410
)
G
of the
MDM2
gene; OR = 1.53, 95% CI = 0.76–3.09,
p
= 0.29 for the
Arg
allele of the
Ser31Arg
of the
CDKN1A
gene. Obtained results show no association with ovarian cancer for studied markers. It was revealed that the carriage of minor alleles of the
Arg72Pro
of the
TP53
gene,
T
(
–410
)
G
of the
MDM2
gene, and
Ser31Arg
of the
CDKN1A
gene did not affect the risk of development of ovarian cancer in women of the Moscow region.
This paper introduces the reader to the field of liquid biopsies and cell-free nucleic acids, focusing on circulating tumor DNA (ctDNA) in breast cancer (BC). BC is the most common type of cancer in ...women, and progress with regard to treatment has been made in recent years. Despite this, there remain a number of unresolved issues in the treatment of BC; in particular, early detection and diagnosis, reliable markers of response to treatment and for the prediction of recurrence and metastasis, especially for unfavorable subtypes, are needed. It is also important to identify biomarkers for the assessment of drug resistance and for disease monitoring. Our work is devoted to ctDNA, which may be such a marker. Here, we describe its main characteristics and potential applications in clinical oncology. This review considers the results of studies devoted to the analysis of the prognostic and predictive roles of various methods for the determination of ctDNA in BC patients. Currently known epigenetic changes in ctDNA with clinical significance are reviewed. The possibility of using ctDNA as a predictive and prognostic marker for monitoring BC and predicting the recurrence and metastasis of cancer is also discussed, which may become an important part of a precision approach to the treatment of BC.
The molecular genetic modifications in multiple genes involved in folate and homocysteine metabolism play the pivotal role in the development of hyperhomocysteinemia. Hyperhomocysteinemia is observed ...in 5% of patients worldwide and accompanies various multifactorial diseases, including neurodegenerative, autoimmune and vascular disorders and tumors. It should be noted that increased homocysteine level itself may point to some imbalance in the organism and represent a diagnostic marker of the development of some pathology. The present review describes the role of molecular-genetic modifications in one carbon metabolism accompanying different multifactorial diseases, including congenital birth defects, vascular disorders, diabetes, and hormone-dependent cancers such as breast and ovarian cancer. Data of the association between the SNPs in functionally significant genes involved in the one carbon metabolism and pathologies mentioned above were demonstrated. In addition, we firstly represent the data of the involvement of epigenetic factors (hypermethylation and miRNA) in regulation of these genes in multifactorial diseases. The section devoted to the role of molecular-genetic impairments in the genes involved in homocysteine metabolism associated with breast and ovarian cancer includes worldwide findings and our own results.
State Research Center "GosNIIgenetika", Moscow, 117545 Russia). Association of polymorphic markers Arg72Pro of TP53 gene and T309G of MDM2 gene with risk of non small cell lung cancer has been ...studied in Russians of Moscow region. We found an association of minor Pro/Pro genotype of polymorphic marker Arg72Pro (OR = 5.46, p = 8 x 10(-6)) and TG genotype of polymorphic marker T309G (OR = 5.57, p = 0.007) with non small cell lung cancer development. We have also showed a strong association of both Pro/Pro and TG genotypes with development of adenocarcinoma (OR = 8.71, p = 3 x 10(-6) and OR = 8.13, p = 0.003) and squamous-cell lung cancer (OR = 4.2, p = 0.001 and OR = 7.02, p = 0.002). We have finally found highly reliable association of combined susceptible genotypes of polymorphic markers Arg72Pro and T309G of TP53 and MDM2 genes with non small cell lung cancer and both its subtypes (OR = 7.9, p = 0.01; OR = 9.12,p = 0.02; OR = 7.31, p = 0.03, respectively).
Association of
TP53
Arg72Pro and
MDM2
T309G polymorphic markers with the risk of non-small-cell lung cancer was studied in a Russian population of the Moscow region. The minor Pro/Pro genotype of ...Arg72Pro and the TG genotype of T309G were associated with non-small-cell lung cancer (OR = 5.46,
p
= 8 × 10
−6
and OR = 7.38,
p
= 0.0001, respectively). Both Pro/Pro and TG genotypes were also strongly associated with lung adenocarcinoma (OR = 8.71,
p
= 3 × 10
−6
and OR = 8.13,
p
= 0.003, respectively) and squamous-cell lung carcinoma (OR = 4.2,
p
= 0.001 and OR = 7.02,
p
= 0.002, respectively). Finally, combined susceptible genotypes of
TP53
and
MDM2
polymorphisms Arg72Pro and T309G were reliably associated with non-small-cell lung cancer and both its subtypes (OR = 7.9,
p
= 0.01; OR = 9.12,
p
= 0.02; OR = 7.31,
p
= 0.03, respectively).
Atopic dermatitis (AD) is a worldwide disease with a complex aetiology. Both genetic and environmental factors cause a predisposition to AD. DNA methylation may be an additional predisposing factor. ...The goal of our study was to investigate genome‐wide methylation profiles of skin from patients with AD and healthy persons. This case–control study included 12 AD patients and 6 healthy volunteers. DNA methylation levels in skin samples were analysed using the Illumina Infinium HumanMethylation450 BeadChip. We found that the methylation profile of skin from patients with AD was significantly different from that of healthy controls. Differential DNA methylation was observed for genes involved in a number of AD‐related processes including regulation of the immune response, activation of lymphocytes, cell proliferation, apoptosis and differentiation of the epidermis. Our study indicates the involvement of epigenetic regulation in the development of atopic dermatitis.
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