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Linkage of biopsy cancer and population records aimed at the estimation of family risks in neoplasia: a pilot study.

机译:活检癌症和人口记录之间的联系旨在评估瘤形成中的家庭风险:一项试点研究。

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摘要

STUDY OBJECTIVE--The aim was to link individual demographic and medical records into sibships to obtain the sibling distribution of biopsies and cancers, and thereby calculate heritability and recurrence risks in families, thus aiding early diagnosis and prevention of cancers. DESIGN--The 157,823 individual records of the inhabitants of the town of Ferrara in Italy were automatically linked into 106,821 sibships. A 10% sample (10,842 sibships) was then extracted from the distribution of sibships and tabulated, for linkage to medical records. PATIENTS--The biopsy records at the Institute of Pathological Anatomy of the University of Ferrara were manually linked to cancer records and then to sibships. It was possible to construct the distribution of 2062 biopsies and of 829 cancers in sibships. RESULTS--From the distribution of biopsies and tumours in sibships, it was possible to estimate the incidence of tumours in the population (0.052) and in siblings of affected (0.083), and to apply to such distributions current methods for the estimate of heritability (h2 = 0.246) and of recurrence risks of tumours in sibships, age independent. CONCLUSIONS--The study shows that the procedure resulting in the estimation of incidences and recurrence risks for tumours could be completely automated, and extended to whole populations and homogeneous subgroups in post industrial cultures.
机译:研究目的-目的是将个人的人口统计和医疗记录联系起来,以获取活检和癌症的同胞分布,从而计算家庭的遗传力和复发风险,从而有助于癌症的早期诊断和预防。设计-意大利费拉拉(Ferrara)镇的居民的157,823条个人记录被自动链接到106,821名同胞。然后从同胞分布中提取10%的样本(10,842个同胞)并制成表格,以链接到病历。患者-费拉拉大学病理解剖学研究所的活检记录被手动链接到癌症记录,然后再链接到同居关系。可以建立2062个活检组织和829个癌伴的分布。结果-根据同胞活检和肿瘤的分布情况,有可能估计人群中肿瘤的发生率(0.052)和患病兄弟姐妹中的肿瘤发生率(0.083),并将这种方法应用于当前的遗传力估计方法(h2 = 0.246)和同龄人肿瘤的复发风险,与年龄无关。结论-研究表明,该过程可以完全自动化地估算肿瘤的发生率和复发风险,并且可以扩展到后工业文化中的整个人群和同质亚群。

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