scholarly journals Study of Some Genetic Variants for Cancer in Women with Breast Cancer In the East Azarbaijan Region by MLPA Method

2018 ◽  
Vol 15 (3) ◽  
pp. 671-677
Author(s):  
Mahdiyeh Pashaei ◽  
Jamal Eivazi Ziaei ◽  
Alireza Nikanfar ◽  
Babak Emamalizadeh ◽  
Seyyed Mojtaba Mohaddes Ardebili
Keyword(s):  
Breast Cancer ◽  
Genetic Variants ◽  
Descriptive Study ◽  
Healthy People ◽  
Iranian Women ◽  
Large Rearrangement ◽  
Main Factors ◽  
Brca1 Brca2 ◽  
P53 Genes ◽  
Control Samples

Breast cancer is one of the main factors in the mortality of Iranian women. A large rearrangement genome is observed in most genes, especially in BRCA1 / BRCA2 genes lacking small mutations in breast cancer. Therefore, methods are needed to detect one or more exon deletions or their duplication. Therefore, the aim of this study was to determine the change in the number of copies of ATM, BRCA1, CHEK2, PTEN, and P53 genes in women with breast cancer in the East Azarbaijan region by MLPA method. This research is a descriptive study that was conducted randomly among 150 Azeri women with breast cancer who were referred to Tabriz Nour Najat Hospital; sixteen healthy people were selected as control samples. Deletion and duplication of ATM, BRCA1, P53, CHEK2 and PTEN genes were investigated using the MLPA method. The results showed that there was no pathogenicity mutation in these five genes. Therefore, it can be said that a large rearrangement genome in the East Azarbaijan province is very unlikely to lead to breast cancer in the area.

scholarly journals Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Buryat Women

2021 ◽  
Author(s):  
Polina Gervas ◽  
Aleksey Molokov ◽  
Artem Kiselev ◽  
Aleksei Zarubin ◽  
Evgeny Yumov ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Variants ◽  
Early Onset ◽  
Rare Variants ◽  
Early Onset Breast Cancer ◽  
Post Translational Modification ◽  
Molecular Tests ◽  
Asian Populations ◽  
New Variant ◽  
Brca1 Brca2

Abstract Background: Germline alterations in ATM, BRCA1, BRCA2, and other genes are responsible for early-onset breast cancer. However, up to 20% of molecular tests report genetic variant of unknown significance (VUS) or novel variants that have never been previously described and their clinical significance are unknown. An existing open access databases (ClinVar, BIC, and ENIGMA and other) play an important role in the interpretation of VUS, but in Asian populations the interpretation of VUS is still difficult due to restricted data. This study aimed to reclassify the genetic variants by using the ActiveDriveDB database that annotates variants through the lens of sites of post-translational modifications.Methods: Our study included young Buryat BC patients, anthropologically belonging to the Central Asia. Genomic DNA was used to prepare libraries. NGS sequencing was performed on a NextSeq 500 System. Results: We re-examined 135 rare variants (41 VUS, 25 conflicting, 64 benign and 5 new variants). We identified 10 out of 135 (7.4%) mutations that affected the sites of post-translational modification in proteins. Of 135 rare mutations, 1 benign variant was reclassified as network-rewiring - motif loss mutation, 3 VUS and 1 new variant were reclassified as distal PTM- mutations, 2 new and 1 benign variant were classified as proximal PTM- mutations and 1 benign and 1 conflicting variant were classified as direct PTM- mutations.Conclusions: For the first time, 7.4% (10 out of 135) of mutations that affected the sites of post-translational modification in proteins were identified among Buryat women with early-onset breast cancer.

scholarly journals MicroRNA-binding site polymorphisms and risk of breast cancer

2020 ◽  
pp. 12-13
Author(s):  
М.А. Бермишева ◽  
И.Р. Гилязова ◽  
Г.Ф. Зиннатуллина ◽  
А.А. Богданова ◽  
Э.К. Хуснутдинова
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Genetic Variants ◽  
Binding Sites ◽  
Target Genes ◽  
Case Control Study ◽  
Expression Of Genes ◽  
Brca1 Brca2 ◽  
Control Study

Рак молочной железы (РМЖ) - многофакторное, генетически гетерогенное заболевание. Результаты многочисленных исследований доказали важную роль микроРНК в прогрессии опухолей. Гены микроРНК являются высоко консервативными, и считается, что любые варианты в этих последовательностях, а также сайтах связывания микроРНК в генах-мишенях находятся под отрицательным селективным давлением. Предполагается, что такие изменения могут быть связаны с повышенным риском развития рака. Наше исследование направлено на выявление генетических вариантов в сайтах связывания микроРНК с мишенью, ассоциированных с риском развития РМЖ. Проведен анализ полиморфных вариантов, расположенных в 3’- нетранслируемых регионах генов BRCA1, BRCA2, BRIP1, RAD51, RAD52, MRE11A, NBN, ERBB4, PTEN у больных РМЖ и в группе контроля. Определено, что полиморфные варианты rs11895168/ERBB4 и rs7180135/RAD51 ассоциированы с риском развития РМЖ. Breast cancer (BC) is a complex, genetically heterogeneous disease. The results of numerous studies have proven the important role of miRNA in tumor progression. miRNA sequences are highly conserved. Any variants in these sequences as well as the binding sites of miRNA in the target genes are supposed to be under negative selective pressure. miRNA that alter the expression of genes have been identified to play a significant role in BC regulation. The present study is aimed at investigating the involvement of SNPs in miRNA-binding sites as risk factors for the development of BC. A case - control study was performed to evaluate genetic variants of BRCA1, BRCA2, BRIP1, RAD51, RAD52, MRE11A, NBN, ERBB4, PTEN genes as BC risk factors. The results of the present study suggest that genetic variants rs11895168 / ERBB4 and rs7180135 / RAD51 are associated with breast cancer risk.

Validation of the Persian version of the satisfaction with life scale (SWLS) in Iranian women with breast Cancer

2021 ◽  
Author(s):  
Roghieh Nooripour ◽  
Simin Hosseinian ◽  
Nikzad Ghanbari ◽  
Shahpar Haghighat ◽  
Joshua J. Matacotta ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Satisfaction With Life ◽  
Satisfaction With Life Scale ◽  
Iranian Women ◽  
Persian Version ◽  
Life Scale

Dietary Carbohydrate Quality and Quantity and Risk of Breast Cancer among Iranian Women

2021 ◽  
pp. 1-11
Author(s):  
Fatemeh Hosseini ◽  
Hossein Imani ◽  
Fatemeh Sheikhhossein ◽  
Maryam Majdi ◽  
Mahtab Ghanbari ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dietary Carbohydrate ◽  
Iranian Women ◽  
Carbohydrate Quality

scholarly journals A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Juliette Coignard ◽  
◽  
Michael Lush ◽  
Jonathan Beesley ◽  
Tracy A. O’Mara ◽  
...  
Keyword(s):  
Breast Cancer ◽  
General Population ◽  
Genome Wide Association Study ◽  
Brca2 Mutation ◽  
Risk Scores ◽  
Genetic Modifiers ◽  
Mutation Carriers ◽  
Genotype Frequencies ◽  
Genome Wide ◽  
Brca1 Brca2

AbstractBreast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.

scholarly journals Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Solene De Talhouet ◽  
Julien Peron ◽  
Aurelie Vuilleumier ◽  
Alex Friedlaender ◽  
Valeria Viassolo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Disease Free Survival ◽  
Germline Mutations ◽  
Brca1 And Brca2 ◽  
Free Survival ◽  
Entire Cohort ◽  
Dna Damaging Agents ◽  
Impact On Survival ◽  
Brca1 Brca2 ◽  
Brca1 And Brca2 Mutations

Abstract BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. There are conflicting data regarding the prognostic value of BRCA germline mutations in breast cancer (BC) patients. We collected clinical, pathological and genetic data of a cohort 925 BC patients preselected for genetic screening and treated with neoadjuvant or adjuvant chemotherapy, of whom 266 were BRCA carriers. Overall, 171 women carried a BRCA1 mutation, 95 carried a BRCA2 mutation, and 659 were non-carriers. In the entire cohort, there was a prolonged disease-free survival (DFS) for BRCA carriers (hazard ratio (HR) = 0.63; 95% confidence interval (CI), 0.44–0.90 for BRCA1; HR = 0.72; 95%CI, 0.47–1.1 for BRCA2; p = 0.020) and a trend toward prolonged disease-specific survival (DSS; HR = 0.65; 95%CI, 0.40–1.1 for BRCA1; HR = 0.78; 95%CI, 0.44–1.38 for BRCA2; p = 0.19) though not statistically significant. In the TNBC group, BRCA carriers had prolonged DFS (adjusted HR = 0.50; 95%CI, 0.28–0.89 for BRCA1; adjusted HR = 0.37; 95%CI, 0.11–1.25, for BRCA2; p = 0.034) and DSS (adjusted HR = 0.42; 95%CI, 0.21–0.82 for BRCA1; adjusted HR = 0.45; 95%CI, 0.11–1.9 for BRCA2; p = 0.023). In the non-TNBC group, the BRCA1 or BRCA2 mutations did not have any impact on survival. These results suggest that BRCA1/BRCA2 germline mutations are associated with prolonged survival only if women were diagnosed with TNBC.

Abstract 2087: Breast tissue-specific DNA methylation levels predicted by genetic variants in association with breast cancer

2021 ◽  
Author(s):  
Chunyan He ◽  
James Castle ◽  
Nan Lin ◽  
Jinpeng Liu ◽  
Chi Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Methylation ◽  
Genetic Variants ◽  
Breast Tissue ◽  
Tissue Specific

Polymorphism in the genes of alpha and beta tumor necrosis factors (TNF-α and TNF-β) and gamma interferon (IFN-γ) among Iranian women with breast cancer

2005 ◽  
Vol 223 (1) ◽  
pp. 113-119 ◽  
Author(s):  
Eskandar Kamali-Sarvestani ◽  
Ahmad Merat ◽  
Abdol-Rasoul Talei
Keyword(s):  
Breast Cancer ◽  
Tumor Necrosis ◽  
Gamma Interferon ◽  
Iranian Women ◽  
Tumor Necrosis Factors ◽  
Tnf Α ◽  
Ifn Γ
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