Listar Ciencias Exactas y Naturales por autor "Prolla, Patrícia Ashton"
Mostrando ítems 1-14 de 14
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BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil : are international testing criteria appropriate for this specific population?
(2017) [Artículo de periódico]Background Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). Methods In this study we evaluated the mutational profile and prevalence of BRCA ... -
CHEK2 1100delC germline mutation : a frequency study in hereditary breast and colon cancer Brazilian families
(2012) [Artículo de periódico]Introdução - CHEK2 codifica uma proteína quinase envolvida em um ponto de checagem do ciclo celular que desempenha um papel importante na via de reparação do DNA, danos ativados principalmente por ATM (Ataxia Telangiectasia ... -
Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care
(2009) [Artículo de periódico]Background: Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed ... -
Estimação da probabilidade de mutação germinativa através da história familiar
(2011) [Artículo de periódico]Introdução: Cerca de 10% de todos os tumores são primariamente causados por mutações germinativas de alta penetrância em genes de predisposição ao câncer. Indivíduos portadores dessas mutações têm risco significativamente ... -
GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submetted to breast cancer screening
(2012) [Artículo de periódico]Polimorfismos genéticos em genes relacionados com o metabolismo de xenobióticos, como os genes da superfamília das glutationa S-transferases (GSTM1, GSTT1 e GSTP1) têm sido associados com o aumento do risco para câncer de ... -
HLA haplotypes and differential regional mortality caused by COVID-19 in Brazil: an ecological study based on a large bone marrow donor bank dataset
(2023) [Artículo de periódico]The coronavirus disease 2019 (COVID-19) mortality rates varied among the states of Brazil during the course of the pandemics. The human leukocyte antigen (HLA) is a critical component of the antigen presentation pathway. ... -
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes : a review for the pediatrician
(2015) [Artículo de periódico]Introduction: cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric ... -
Performance of the Gail and Tyrer-Cuzick breast cancer risk assessment models in women screened in a primary care setting with the FHS-7 questionnaire
(2019) [Artículo de periódico]Breast cancer (BC) risk assessment models base their estimations on different aspects of a woman’s personal and familial history. The Gail and Tyrer–Cuzick models are the most commonly used, and BC risks assigned by them ... -
Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
(2009) [Artículo de periódico]In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the ... -
Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women
(2012) [Artículo de periódico]Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies ... -
Prevalence of the BRCA1 founder mutation c.5266dup in brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome
(2011) [Artículo de periódico]About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas ... -
Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
(2011) [Artículo de periódico]Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. ... -
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil
(2014) [Artículo de periódico]Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population ... -
TULP3 : a potential biomarker in colorectal cancer?
(2019) [Artículo de periódico]Colorectal cancer (CRC) is the second most common cancer in women and the third most common cancer in men globally. The identification of differentially expressed genes associated to patient’s clinical data may represent ...
