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1.
Genome Med ; 4(11): 92, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23194586

RESUMO

BACKGROUND: In an ongoing clinical trial, the genetic and environmental risk assessment (GERA) blood test offers subjects information about personal colorectal cancer risk through measurement of two novel low-to-moderate risk factors. We sought to examine predictors of uptake of the GERA blood test among participants randomized to the Intervention arm. METHODS: Primary care patients aged 50 to 74 years eligible for colorectal cancer screening are randomized to receive a mailed stool blood test kit to complete at home (Control) or to the control condition plus an in-office blood test called GERA that includes assessment of red blood cell folate and DNA-testing for two MTHFR (methylenetetrahydrofolate reductase) single nucleotide polymorphisms (SNPs) (Intervention). For the present study, baseline survey data are examined in participants randomized to the Intervention. RESULTS: The first 351 intervention participants (161 African American/190 white) were identified. Overall, 249 (70.9%) completed GERA testing. Predictors of GERA uptake included race (African American race, odds ratio (OR) 0.51 (0.29 to 0.87)), and being more knowledgeable about GERA and colorectal cancer screening (OR 1.09 (1.01 to 1.18)). Being married (OR 1.81 (1.09 to 3.00)) was also significant in the multivariable model. CONCLUSIONS: Participant uptake of GERA testing was high. GERA uptake varied, however, according to socio-demographic background and knowledge.

2.
Hum Genet ; 117(4): 307-16, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15906096

RESUMO

BACKGROUND: Prostate cancer (PRCA) is the most common cancer in males in the western world. In Finland PRCA has an age-adjusted incidence of 81.5 per 100,000. We previously reported that in Finland, the late-onset cases in families with "no-male-to-male" (NMM) transmission of PRCA accounted for most of the linkage to the HPCX region (Xq27-28). The aim of the present study was to test for linkage disequilibrium (LD) and haplotype-sharing around marker DXS1205 between cases from hereditary prostate cancer (HPC) families and population controls. The initial allelic association was performed between 108 PRCA cases and 257 population controls genotyped for 23 markers in the Xq26-28 region. This resulted in a highly significant nominal one-sided Fisher's exact P-value of 0.0003 for allele ''180'' of marker DXS1205. Subsequently, a similar level of significance was observed for the same allele for marker DXS1205 (P=0.0002) when comparing 60 NMM cases and 257 controls. These results were still significant after Bonferroni correction for multiple testing. Fine mapping efforts included the genotyping of four additional markers D3S2390, bG82i1.9, bG82i1.1, bG82i1.0 and four single nucleotide polymorphisms (SNPs) to augment the original markers around DXS1205. RESULTS: Our major finding is that markers extending from ''D3S2390'' to ''bG82i1.0'' flank the critical locus, about 150 kb. Levin and Bertell's LD measure (delta), a guide to localization of a possible variant, was 0.42 and 0.41 for alleles of markers bG82i1.9 and DXS1205, respectively. CONCLUSIONS: In this study, the most significant haplotype comprised the three tightly linked, contiguous markers: ''cen-bG82i1.9-SNP-Hap B-bG82i1.1-tel'' [''197-2-234''] among several possible haplotypes (nominal Fisher's one-sided P=0.003). The two transcription units mapping within this interval are the LDOC1 and SPANXC genes. Positional cloning of the HPCX gene(s) is being facilitated by this exploration of the Xq26-28 region. This study represents the first report identifying a haplotype in the Xq27-28 region for an association between HPCX and X-linked prostate cancer with no-male-to-male transmission in the Finnish population.


Assuntos
Cromossomos Humanos X/genética , Predisposição Genética para Doença , Haplótipos/genética , Desequilíbrio de Ligação/genética , Neoplasias da Próstata/genética , Mapeamento Cromossômico , Análise Mutacional de DNA , Finlândia/epidemiologia , Frequência do Gene , Marcadores Genéticos/genética , Genótipo , Humanos , Masculino , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Neoplasias da Próstata/epidemiologia , Análise de Sequência de DNA , Proteínas Supressoras de Tumor/genética
3.
Cancer ; 98(1): 166-75, 2003 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-12833469

RESUMO

BACKGROUND: Patients in Phase I clinical trials sometimes report high expectations regarding the benefit of treatment. The authors examined a range of patient characteristics to determine which factors were associated with greater expectations of benefit from Phase I trials. METHODS: Participants were adult patients with cancer who had been offered participation in Phase I studies and had decided to participate. Patients completed interviewer-administered surveys before initiation of treatment. Physicians assessed Eastern Cooperative Oncology Group performance status for each patient. Statistical analyses (Pearson product moment correlation and t tests) used multiple imputation to account for missing data. RESULTS: Overall, 593 patients who were offered participation in Phase I trials were contacted, and 328 patients agreed to participate in a study of decision making by cancer patients. Of these, 260 patients (79%) enrolled in a Phase I trial. Patients' expectations regarding the chance that their disease would be controlled with experimental therapy were unrelated to age, gender, living situation, education level, or functional status. Expectations were correlated positively with beliefs about the benefit of standard therapy and the maximum benefit patients may experience from experimental therapy. Greater expectations of benefit were associated with better health-related quality of life, stronger religious faith, optimism, relative health stock, monetary risk seeking, and poorer numeracy. CONCLUSIONS: Expectations expressed as beliefs in personal outcomes may be related more to quality of life and personality variables than to patients' knowledge or functional status. Whether such expectations are accurate reflections of knowledge has important implications for evaluating the informed consent process.


Assuntos
Ensaios Clínicos Fase I como Assunto , Pacientes/psicologia , Adulto , Idoso , Tomada de Decisões , Feminino , Humanos , Consentimento Livre e Esclarecido , Masculino , Pessoa de Meia-Idade , Neoplasias/terapia , Participação do Paciente , Seleção de Pacientes , Percepção , Qualidade de Vida , Revelação da Verdade
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