Spectropolarimetric comparison of molecular-genetic study of BRCA1 gene mutation types in patients with breast cancer and their relatives

2020 ◽  
Author(s):  
Olexander P. Peresunko ◽  
Tatjana V. Kruk ◽  
Kateryna M. Chala ◽  
Sergey B. Yermolenko ◽  
Denis G. Gostyuk ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Mutation ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Brca1 Gene ◽  
Molecular Genetic Study ◽  
Brca1 Gene Mutation

scholarly journals WT1 gene mutation in exone 7 in boy with disturbance of the sex formation and the bilateral nephroblastoma

2020 ◽  
Vol 64 (6) ◽  
pp. 94-97
Author(s):  
N. R. Akramov ◽  
I. V. Osipova ◽  
A. M. Zakirova ◽  
E. I. Khaertdinov ◽  
E. L. Rashitova
Keyword(s):  
Gene Mutation ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Lower Pole ◽  
Molecular Genetic Study ◽  
Metachronous Tumor ◽  
The Right ◽  
Surgical Operations ◽  
I Gene ◽  
Final Operation

The case of observing a patient with WT1 gene mutation in exone 7 with bilateral Wilms metachronous tumor, disturbance of the sex formation in the form of scrotal hypospadias and bilateral abdominal cryptorchidism, without nephropathy, is presented. The child underwent surgical operations: left-sided nephrectomy, resection of the lower pole of the right kidney, bilateral orchiopexy and two-stage hypospadias correction. 7 years after the start of treatment and 3 years after the final operation, the condition of the child was estimated as satisfactory. The presented case by the results of the molecular genetic study has no previously described analogues and requires further observation.

Allele Imbalance, or Loss of Heterozygosity, in Normal Breast Epithelium of Sporadic Breast Cancer Cases and BRCA1 Gene Mutation Carriers Is Increased Compared With Reduction Mammoplasty Tissues

2005 ◽  
Vol 23 (34) ◽  
pp. 8613-8619 ◽  
Author(s):  
Pamela S. Larson ◽  
Benjamin L. Schlechter ◽  
Antonio de las Morenas ◽  
Judy E. Garber ◽  
L. Adrienne Cupples ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Risk ◽  
Gene Mutation ◽  
Loss Of Heterozygosity ◽  
Sporadic Breast Cancer ◽  
Brca1 Gene ◽  
Reduction Mammoplasty ◽  
Breast Epithelium ◽  
Brca1 Gene Mutation ◽  
Allele Imbalance

Purpose Normal-appearing breast epithelium can contain genetic abnormalities, including allele imbalance (AI), also referred to as loss of heterozygosity. Whether abnormalities are associated with cancer or cancer risk is unknown. Patients and Methods We performed a miniallelotype, using 20 microsatellites, on each of 460 histologically normal, microdissected breast terminal ducto-lobular units (TDLUs) from three groups of women: sporadic breast cancer patients (SP; n = 18), BRCA1 gene mutation carriers (BRCA1; n = 16), and controls undergoing reduction mammoplasty (RM; n = 18). We analyzed the results using Fisher's exact tests, logistic regression, and generalized estimating equations. Results AI was increased three-fold in SP and BRCA1 groups compared with RM. Both the number of TDLUs with AI increased (eight [5%] of 162 in the RM group compared with 24 [15%] of 162 in the SP and 22 [16%] of 136 in the BRCA1 groups; P = .0150), and the proportion of patients with AI increased (five [28%] of 18 in the RM group compared with 15 [83%] of 18 in the SP and 13 [81%] of 16 in the BRCA1 groups; P = .0007). The adjusted odds ratios (OR) for AI in TDLU increased in SP (OR = 15.5) and BRCA1 (OR = 13.7) patients compared with RM (P = .0025). This result was particularly evident on chromosome 17q (P = .0393), where more AI was seen in BRCA1 (OR = 12.4) than in SP (OR = 4.9) patients or RM controls. Conclusion Increased prevalence of AI in normal-appearing epithelium is associated with breast cancer and increased breast cancer risk. The increased prevalence may reflect dysregulation, even in normal-appearing epithelium, of genomic processes contributing to cancer development. The clinical significance of genetic alterations in the subset of controls remains to be determined.

449 BRCA1 gene mutation carrier analysis in familial breast cancer patients

1995 ◽  
Vol 31 ◽  
pp. S96-S97
Author(s):  
M.A. Caligo ◽  
C. Ghimenti ◽  
S. Ricci ◽  
A. Antonuzzo ◽  
V. Marchetti ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Gene Mutation ◽  
Mutation Carrier ◽  
Familial Breast Cancer ◽  
Brca1 Gene ◽  
Breast Cancer Patients ◽  
Brca1 Gene Mutation ◽  
Gene Mutation Carrier ◽  
Carrier Analysis

scholarly journals Co-inheritance of α- and β-thalassemia in a Bangladeshi family

2017 ◽  
Vol 10 (2) ◽  
pp. 123 ◽  
Author(s):  
Mohammad Mizanur Rahman ◽  
Lutfunnahar Khan
Keyword(s):  
Point Mutation ◽  
Gene Mutation ◽  
Genetic Study ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Heterozygous State ◽  
Molecular Genetic Study ◽  
Hematological Indices ◽  
Mild Anemia ◽  
The Family

<p>The double heterozygous state of α– and β–thalassemia is a relatively rare genetic disorder in Bangladesh which may alter the hematological indices and modify the phenotypic features of thalassemia. An 8 year old boy of a non-consanguineous couple who inherited both α– and β–thalassemia gene from his parents had presented with only mild anemia. Capillary hemoglobin electrophoresis showed the hemoglobin patterns which were in favor of the diagnosis of combined heterozygous alpha and beta thalassaemia carrier. Although molecular genetic study of the boy confirmed the presence of IVS 1–5 G&gt;C point mutation for β–thalassemia but could not detect α–thalassemia gene as the sample was tested for only five most common α–thalassemia gene mutation which is not as much prevalent in Bangladesh. However, basing on the family screening and the hemoglobin pattern on capillary hemoglobin electrophoresis, it can be concluded that the boy is certainly carrying both α– and β–thalassemia gene.</p>

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance

2019 ◽  
Vol 96 (1) ◽  
pp. 91-97
Author(s):  
Maria Goncharova ◽  
Olesya Pshenichnikova ◽  
Yulia Luchinina ◽  
Yaroslav Pustovoit ◽  
Irina Karpova ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Acute Intermittent Porphyria ◽  
Mutation Spectrum ◽  
Molecular Genetic Study

scholarly journals A Novel BRCA1 Gene Mutation Detected With Breast Cancer in a Vietnamese Family by Targeted Next-Generation Sequencing: A Case Report

2020 ◽  
Vol 14 ◽  
pp. 117822342090155
Author(s):  
Tran Van Thuan ◽  
Nguyen Van Chu ◽  
Pham Hong Khoa ◽  
Nguyen Tien Quang ◽  
Dao Van Tu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Next Generation Sequencing ◽  
Gene Mutation ◽  
Brca2 Gene ◽  
Brca1 Gene ◽  
Next Generation ◽  
Clinical Prognosis ◽  
Targeted Next Generation Sequencing ◽  
Brca1 Gene Mutation ◽  
Generation Sequencing

Hereditary breast cancer is an inherited genetic condition, mainly caused by BRCA1 and BRCA2 gene mutations. These genetic changes can increase the risks of breast and ovarian cancers in women, while prostate and breast cancers in men. Especially, mutations in either BRCA1 or BRCA2 genes take important roles in early-onset breast cancer. The present study focused on a 47-year-old Vietnamese woman with breast cancer by applying targeted next-generation sequencing technique. A novel BRCA1 gene mutation, namely NM_007294.3 (BRCA1): c.4998insA (p. Tyr1666Terfs), was identified both in this patient and in some of the members in her family proved the fact that the mutated genes passed down through generations. This change may exponentially initiate breast cancer risks and become a valuable marker for exact clinical prognosis and treatment.

scholarly journals BRCA GENES MUTATIONS’ OF HEREDITARY BREAST CANCER IN CRIMEA

2020 ◽  
Vol 66 (5) ◽  
pp. 507-513
Author(s):  
Viktor Oleksenko ◽  
Kazim Aliev ◽  
K. Malyy
Keyword(s):  
Breast Cancer ◽  
Gene Mutation ◽  
Hereditary Breast Cancer ◽  
Clinical Signs ◽  
Brca1 Gene ◽  
Population Group ◽  
Control Group ◽  
Frequency Of Occurrence ◽  
Brca1 Gene Mutation ◽  
Crimean Tatar

Introduction. The hereditary predisposition to the growth of breast cancer (BC), associated with germline mutations of DNA genes repair (BRCA(1,2)), is characterized by a variety of polymorphism variants, with a tendency to a certain specificity in different population groups. In regions with a mixed population composition, such as Crimean Peninsula, the problem of the relationship of specific mutations and a population group is not only of scientific interest, but also has rather important practical significance from the point of view of diagnostic and prognostic criteria design for the breast cancer incidence. The aim of the study was to determine the frequency of occurrence of BRCA1 (5382insC, 4153delA, 185delAG) and BRCA2 (6174delT) genes mutations in two population groups having a breast cancer and living in the Crimea - Slavic and Crimean Tatar, with clinical signs of a hereditary disease. Materials and methods. 283 DNA samples were studied, collected from the blood of patients with clinical signs of hereditary breast cancer, of which 208 were Slavic and 75 were Crimean Tatar population group. The control group consisted of 256 DNA samples collected from the blood of healthy women, of which 196 were Slavic and 60 were Crimean Tatar population group. The study was carried out using real-time polymerase chain reaction (PCR-RT) by allelic discrimination, with the analysis of melting curves. Morphological verification of the diagnosis was carried out by a set of methods for determining the histological variant and tumor immunophenotyping according to the standard diagnostic program. Results. Mutations were detected in 23 breast cancer cases; these mutations were determined exclusively in the Slavic group. The 5382insC BRCA1 gene mutation was prevailed (21/10,1%), and 185delAG BRCA1 mutations one case and 6174delT BRCA2 mutation one case were obtained. None of the gene mutation was not registered in the Crimean Tatar population group. Immunohistochemi-cally triple negative breast cancer was determined in 86.4% of mutations cases. Only one case of mutation was recorded in the control group - 5382insC of the BRCA1 gene in the Slavic population group (0,4%). Conclusion. The frequency of occurrence of the “founder mutation” 5382insC BRCA1 gene mutation in breast cancer patients from Slavic population group corresponds to the average Russian and European levels, the frequency of other variants of the studied mutations, 185delAG BRCA1 gene and 6174delT BRCA2 gene, is recorded much less frequently, and the 4153delA mutation was not observed in the studied samples. The absence of mutations in the studied markers of the Crimean Tatars population group, including those with a hereditary predisposition to breast cancer, indicates differences in the mutation spectrum and necessitates the continuation of studies with an expansion of the mutation spectrum, with the prospect of full-genome (BRCA1) or genome-wide DNA sequencing of patients.

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