Genes Brca1
Mostrando 1-12 de 112 artigos, teses e dissertações.
-
1. Implicações éticas dos testes genéticos de suscetibilidade ao câncer de mama
Resumo O câncer de mama representa um problema de saúde pública por ser a neoplasia maligna de maior incidência em mulheres no mundo. A forma hereditária corresponde a cerca de 5% a 10% de todos os casos e está diretamente relacionada à herança de mutações genéticas, sendo as principais nos genes supressores de tumor BRCA1 e BRCA2. A identificaç�
Revista Bioética. Publicado em: 2022
-
2. Hormone therapy after risk-reducing surgery in patients with BRCA1/BRCA2 mutation: evaluation of potential benefits and safety
RESUMO Mulheres portadoras de mutações nos genes BRCA 1 e 2 possuem risco aumentado para cânceres de ovário e mama e, portanto, são candidatas às cirurgias redutoras de risco, incluindo a salpingo-ooforectomia e a mastectomia. A salpingo-ooforectomia redutora de risco (SORR) é considerada a medida profilática mais efetiva para prevenção do câncer
Rev. Assoc. Med. Bras.. Publicado em: 2020-08
-
3. DNA repair genes in astrocytoma tumorigenesis, progression and therapy resistance
Abstract Glioblastoma (GBM) is the most common and malignant type of primary brain tumor, showing rapid development and resistance to therapies. On average, patients survive 14.6 months after diagnosis and less than 5% survive five years or more. Several pieces of evidence have suggested that the DNA damage signaling and repair activities are directly correl
Genet. Mol. Biol.. Publicado em: 13/12/2019
-
4. Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era
Abstract Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing cancer, especially breast and ovarian tumors. Since the cloning of these tumor suppressor genes over two decades ago, a significant amount of research has been done. Most recently, monoallelic loss-of-function mutations in PALB2 have also been shown to increase the ris
Genet. Mol. Biol.. Publicado em: 29/04/2019
-
5. Cost effectiveness of the cancer prevention program for carriers of the BRCA1/2 mutation
ABSTRACT OBJECTIVE: To analyze the cost effectiveness of the diagnostic program for the germline mutation in BRCA1/2 genes and of preventative strategies for the relatives of patients diagnosed with ovarian cancer associated with this mutation. METHODS: The study analyzed the cost effectiveness by developing an analysis of the Markov decision process from
Rev. Saúde Pública. Publicado em: 29/11/2018
-
6. Urological cancer related to familial syndromes
ABSTRACT Cancer related to hereditary syndromes corresponds to approximately 5-10% of all tumors. Among those from the genitourinary system, many tumors had been identified to be related to genetic syndromes in the last years with the advent of new molecular genetic tests. New entities were described or better characterized, especially in kidney cancer such
Int. braz j urol.. Publicado em: 2017-04
-
7. BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome
Abstract Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible
Genet. Mol. Biol.. Publicado em: 2016-06
-
8. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil
Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, o
Genet. Mol. Biol.. Publicado em: 24/05/2016
-
9. Ionizing radiation-induced DNA injury and damage detection in patients with breast cancer
Abstract Breast cancer is the most common malignancy in women. Radiotherapy is frequently used in patients with breast cancer, but some patients may be more susceptible to ionizing radiation, and increased exposure to radiation sources may be associated to radiation adverse events. This susceptibility may be related to deficiencies in DNA repair mechanisms t
Genet. Mol. Biol.. Publicado em: 24/11/2015
-
10. Associação de história familiar e estilo de vida a comorbidades em pacientes com câncer de ovário.
Resumo Objetivos: analisar fatores que possam indicar uma predisposição familiar ao câncer de ovário em pacientes com este diagnóstico. Métodos: em estudo de coorte prospectiva realizado no Instituto do Câncer do Estado de São Paulo (ICESP), foram incluídas 51 mulheres diagnosticadas com câncer de ovário entre janeiro de 2009 e dezembro de 2011. P
Rev. Assoc. Med. Bras.. Publicado em: 2015-06
-
11. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
Approximately 10% of all cancers are considered hereditary and are primarily caused by germline, high penetrance mutations in cancer predisposition genes. Although most cancer predisposition genes are considered molecularly heterogeneous, displaying hundreds of different disease-causing sequence alterations, founder mutations have been identified in certain
Genet. Mol. Biol.. Publicado em: 2014
-
12. CARACTERIZAÇÃO MOLECULAR DOS COMPONENTES DO SISTEMA ANGIOTENSINA-(1-7) DURANTE A DIVERGÊNCIA FOLICULAR E EXPRESSÃO DE GENES DE REPARO DA FITA DUPLA DE DNA EM EMBRIÕES BOVINOS / MOLECULAR CHARACTERIZATION OF THE ANGIOTENSIN-(1-7) SYSTEM COMPONENTS DURING FOLLICULAR DEVIATION AND EXPRESSION OF DNA DOUBLE-STRANDED REPAIR GENES IN BOVINE EMBRYOS
The first study characterized the expression of MAS receptor and key enzymes for Ang-(1-7) production, such as, ACE2, NEP and PEP during follicular development. Furthermore, the regulation of local Ang1-7 system was evaluated after the intrafollicular injection of fulvestrant (an estradiolreceptor inhibitor) in the dominant follicle. Cows were ovariectomized
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 24/02/2012