首页> 美国卫生研究院文献>Genetics and Molecular Biology >Self-reported cancer family history is a useful tool for identificationof individuals at risk of hereditary cancer predisposition syndrome at primary carecenters in middle-income settings: a longitudinal study
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Self-reported cancer family history is a useful tool for identificationof individuals at risk of hereditary cancer predisposition syndrome at primary carecenters in middle-income settings: a longitudinal study

机译:自我报告的癌症家族史是鉴定的有用工具基层医疗时有遗传性癌症易感综合征风险的人群中等收入地区的中心:纵向研究

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摘要

Analysis of cancer family history (CFH) offers a low-cost genetic tool to identify familial cancer predisposition. In middle-income settings, the scarcity of individual records and database-linked records hinders the assessment of self-reported CFH consistency as an indicator of familial cancer predisposition. We used self-reported CFH to identify those families at risk for hereditary cancer syndromes in community-based primary care centers of a low-income Brazilian area. We also evaluated the consistency of the information collected by reassessing CFH five years later. We interviewed 390 families and constructed their pedigrees for genetic cancer risk assessment. We found 125 families affected by cancer, 35.2% with moderate to high risk of familial susceptibility to cancer, a number that represents a relatively high prevalence of potential hereditary cancer syndromes in the overall study sample. Upon reassessment of CFH in 14/20 families that were previously identified as having at least one first-degree and one second-degree relative affected by cancer, and presented moderate to high risk for developing cancer, 90% of initial pedigrees were confirmed. These results demonstrate the reliability of self-reports as a means of early identification of healthy individuals at risk, encouraging the wider use of this method in low- and middle-income primary care settings.
机译:癌症家族史(CFH)的分析提供了一种低成本的遗传工具,可以识别家族性癌症的易感性。在中等收入环境中,个人记录和数据库链接记录的稀缺性阻碍了自我报告CFH一致性作为家族性癌症易感性指标的评估。我们使用自我报告的CFH在巴西低收入地区以社区为基础的初级保健中心中识别出患有遗传性癌症综合征风险的家庭。我们还通过五年后重新评估CFH来评估所收集信息的一致性。我们采访了390个家庭,并建立了他们的谱系进行遗传癌症风险评估。我们发现有125个家庭受到癌症的影响,其中35.2%的家庭对癌症的易感性为中度到高风险,在整个研究样本中,这个数字代表了潜在的遗传性癌症综合征的相对较高的患病率。在对14/20个家庭中的CFH进行了重新评估后,这些家庭先前被确定具有至少一个一级和一个二级亲戚受癌症影响,并呈现出中到高患癌症的风险,因此确认了90%的初始谱系。这些结果证明了自我报告作为早期识别处于风险中的健康个体的手段的可靠性,这鼓励了该方法在中低收入初级保健机构中的广泛使用。

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