scholarly journals Genetic Variants in the 3’UTR of BRCA1 and BRCA2 Genes and Their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer

Diagnostics ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. 298 ◽  
Author(s):  
María Marisela Sánchez-Chaparro ◽  
Idalia Garza-Veloz ◽  
Omar Alejandro Zayas-Villanueva ◽  
Margarita L. Martinez-Fierro ◽  
Iván Delgado-Enciso ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Variants ◽  
Binding Sites ◽  
Odds Ratio ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
New Variant ◽  
Brca1 And Brca2 Genes ◽  
Study Population ◽  
New Evidence

Hereditary breast and ovarian cancer (HBOC) syndrome is mainly caused by mutations in the BRCA1 and BRCA2 genes. The 3’UTR region allows for the binding of microRNAs, which are involved in genetic tune regulation. We aimed to identify allelic variants on 3’UTR miRNA-binding sites in the BRCA1 and BRCA2 genes in HBOC patients. Blood samples were obtained from 50 patients with HBOC and from 50 controls. The 3’UTR regions of BRCA1 and BRCA2 were amplified by PCR and sequenced to identify genetic variants using bioinformatics tools. We detected nine polymorphisms in 3’UTR, namely: four in BRCA1 (rs3092995 (C/G), rs8176318 (C/T), rs111791349 (G/A), and rs12516 (C/T)) and five in BRCA2 (rs15869 (A/C), rs7334543 (A/G), rs1157836 (A/G), and rs75353978 (TT/del TT)). A new variant in position c.*457 (A/C) on 3’UTR of BRCA2 was also identified. The following three variants increased the risk of HBOC in the study population: rs111791349-A, rs15869-C, and c.*457-C (odds ratio (OR) range 3.7–15.4; p < 0.05). Genetic variants into the 3’UTR of BRCA1 and BRCA2 increased the risk of HBOC between 3.7–15.4 times in the study population. The presence/absence of these polymorphisms may influence the loss/creation of miRNA binding sites, such as hsa-miR-1248 in BRCA1 3′UTR or the hsa-miR-548 family binding site in BRCA2. Our results add new evidence of miRNA participation in the pathogenesis of HBOC.

scholarly journals Screening for mutations in BRCA1 and BRCA2 genes and related perspectives for the healthcare system

2021 ◽  
Vol 18 (1-2) ◽  
pp. 44-57
Author(s):  
Y. O. Tabaliuk ◽  
L. A. Rybchenko ◽  
B. T. Klimuk ◽  
S. V. Klymenko
Keyword(s):  
Ovarian Cancer ◽  
Genetic Test ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes ◽  
Prevention And Treatment ◽  
Cancer Mutations ◽  
Brca1 Brca2 ◽  
Detection Of Mutations

In the article there were looked some aspects of the knowledge regarding mutations in BRCA1 BRCA2 genes that have been accumulated since the first report on role of these genes in the development of breast and ovarian cancer. Most of them have practical worth related to the detection of mutations, as well as the prevention and treatment of associated ovarian cancer (the article focuses specifically on ovarian cancer, conditioned to relatively less amount of information on this pathology). There has been paid attention to the rational assignment of a genetic test on the presence of mutations in BRCA genes.Keywords: ovarian cancer, mutations in BRCA1 BRCA2 genes, screening of the presence mutations in BRCA1 BRCA2 genes.

scholarly journals BRCA1 and BRCA2 genes mutation analysis in patients with a family history of breast and ovarian cancer

2004 ◽  
Vol 23 (3) ◽  
pp. 271-277 ◽  
Author(s):  
Irene Konstantopoulou ◽  
Radmila Jankovic ◽  
Lidija Raicevic ◽  
Angela Ladopoulou ◽  
Sophia Armaou ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Direct Sequencing ◽  
Brca1 Gene ◽  
Greek Population ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Recurrent Mutations ◽  
Brca1 And Brca2 Genes ◽  
History Of

Hereditary breast and ovarian cancer syndromes can be caused by loss-of-function germline mutations in one of the tumor suppressor genes BRCA1 and BRCA2. In order to characterize these mutations in the Greek population we have been collecting samples from breast/ovarian cancer patients with a family history in collaboration with a large number of Greek Hospitals. Our DNA bank contains samples from more than 300 patients, corresponding to approximately 250 families. In terms of family history this group consists of three subgroups: (I) very early onset (<30 yrs) without family history (10%); (II) moderate family history (2 members affected, < 50 yrs) (40 %) (III) strong family history (3?7 members affected) (50 %). Screening of BRCA1 and BRCA2 genes in 150 patients has revealed deleterious mutations in 39 unrelated patients. 5382insC has been found in 11 unrelated families. In summary, the mutation spectrum of BRCA1 and BRCA2 genes in the Greek population seems to be composed by an elevated frequency of 5382insC with the rest being novel or recurrent mutations with low frequency in both genes. Screening of BRCA1 gene is also in progress in collaboration with the Institute of Oncology and Radiology of Serbia. DNA samples have been collected from 32 Serbian families with a family history of breast ovarian cancer. Direct sequencing in exons 2, 5 and 20 of all these samples revealed only one deleterious mutation (C61G) in exon 5 of BRCA1 gene. Screening of the remaining exons is in progress.

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