scholarly journals Hereditary breast cancer – a spectrum of pathogenic mutations and unknown variants of BRCA1 and BRCA2 genes in the Czech Republic: efficiency of testing and clinical follow-up

2005 ◽  
Vol 7 (S2) ◽  
Author(s):  
L Foretova ◽  
M Lukesova ◽  
P Vasickova ◽  
M Navratilova ◽  
H Pavlu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Czech Republic ◽  
Hereditary Breast Cancer ◽  
Brca1 And Brca2 ◽  
The Czech Republic ◽  
Pathogenic Mutations ◽  
Brca1 And Brca2 Genes

scholarly journals MUTATIONS IN BRCA1 AND BRCA2 GENES AS A CAUSE OF HEREDITARY BREAST CANCER

2020 ◽  
Vol 13 (4) ◽  
pp. 39-43
Author(s):  
REGINA R. GIMAEVA ◽  
◽  
ELENA A. KUPRIYANOVA ◽  
DENIS I. GABELKO ◽  
◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes

scholarly journals The molecular detection of germline mutations in BRCA1 and BRCA2 genes in a small group of patients from Romania

2020 ◽  
Vol 25 (6) ◽  
pp. 2086-2094
Author(s):  
LILIANA-GEORGIANA GRIGORE ◽  
◽  
ATTILA CRISTIAN RAȚIU ◽  
CONSUEL SEVERUS IONICA ◽  
LORAND SAVU ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Germline Mutations ◽  
Brca1 And Brca2 ◽  
Mutational Screening ◽  
Pathogenic Mutations ◽  
Brca1 And Brca2 Genes ◽  
Predisposing Genes ◽  
Factor Evaluation ◽  
Romanian Population ◽  
Brca1 And Brca2 Mutations

Objective: The purpose of this study was to identify and classify the spectrum of small polymorphisms found in BRCA1 and BRCA2 genes in breast cancer risk-assessed patients. Methods and results: The detection of germline mutations was performed by targeted amplification of 47 samples, followed by NGS and mutation data analysis. We identified 62 short polymorphisms that were classified according to their clinical significance reported in ClinVar database: three pathogenic, four with conflicting interpretations of pathogenicity, five likely benign, 46 benign, two without clinical evaluation and two not previously reported. Conclusions: Among the detected polymorphisms a few are shared by most patients and might be prevalent in the Romanian population, a hypothesis that requires further investigation. The detection of only three pathogenic mutations suggests the need to extend the panel of breast cancer predisposing genes. It is conceivable that a mutational screening based primarily on risk factor evaluation would detect a lower number of pathogenic mutations than in confirmed breast cancer cases. Our results contribute to the setup of a BRCA1 and BRCA2 mutations database for the Romanian population.

scholarly journals Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 142
Author(s):  
Elizabeth Ayres Fragoso Dobbin ◽  
Jéssyca Amanda Gomes Medeiros ◽  
Marta Solange Camarinha Ramos Costa ◽  
Juliana Carla Gomes Rodrigues ◽  
João Farias Guerreiro ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Brca2 Gene ◽  
Brazilian Amazon ◽  
Brazilian Population ◽  
Indigenous Populations ◽  
Brca1 And Brca2 ◽  
Brazilian Amazon Region ◽  
Brca1 And Brca2 Genes ◽  
Genetic Profiles

Estimates show that 5–10% of breast cancer cases are hereditary, caused by genetic variants in autosomal dominant genes; of these, 16% are due to germline mutations in the BRCA1 and BRCA2 genes. The comprehension of the mutation profile of these genes in the Brazilian population, particularly in Amazonian Amerindian groups, is scarce. We investigated fifteen polymorphisms in the BRCA1 and BRCA2 genes in Amazonian Amerindians and compared the results with the findings of global populations publicly available in the 1000 Genomes Project database. Our study shows that three variants (rs11571769, rs144848, and rs11571707) of the BRCA2 gene, commonly associated with hereditary breast cancer, had a significantly higher allele frequency in the Amazonian Amerindian individuals in comparison with the African, American, European, and Asian groups analyzed. These data outline the singular genetic profiles of the indigenous population from the Brazilian Amazon region. The knowledge about BRCA1 and BRCA2 variants is critical to establish public policies for hereditary breast cancer screening in Amerindian groups and populations admixed with them, such as the Brazilian population.

scholarly journals Clinical follow up of Mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes

2005 ◽  
Vol 47 (2) ◽  
pp. 110-115 ◽  
Author(s):  
Ana Laura Calderón-Garcidueñas ◽  
Pablo Ruiz-Flores ◽  
Ricardo M Cerda-Flores ◽  
Hugo A Barrera-Saldaña
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Mexican Women ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes

Abstract A025: Screening for genomic rearrangements and germline mutations in BRCA1 and BRCA2 genes in hereditary breast cancer unrelated Brazilian families

2013 ◽  
Author(s):  
Marcia Cristina Pena Figueiredo ◽  
Felipe Carneiro Silva ◽  
Bianca Cristina Garcia Lisboa ◽  
Giovana Tardin Torrezan ◽  
Elisa Napolitano e Ferreira ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Germline Mutations ◽  
Genomic Rearrangements ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes

Hereditary predisposition to breast cancer and its relation to the BRCA1 and BRCA2 genes: literature review

2018 ◽  
Vol 50 (1) ◽  
Author(s):  
Aline Silva Coelho ◽  
Marielle Anália da Silva Santos ◽  
Rosecleide Inácio Caetano ◽  
Camila Fátima Piovesan ◽  
Larissa Aparecida Fiuza ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Literature Review ◽  
Brca1 And Brca2 ◽  
Hereditary Predisposition ◽  
Brca1 And Brca2 Genes
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