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[肿瘤发病率的临床遗传学分析]

[Clinico-genetic analysis of the incidence of neoplasms].

作者信息

Kazubskaia T P, Sitnikova T S, Nefedov M D, Ga'rkavtseva R F

出版信息

Sov Med. 1989(6):16-9.

PMID:2799486
Abstract

The authors sum up the results of clinical and genealogic examinations of 2460 patients with most prevalent tumors, i.e. gastric and mammary carcinomas, melanomas. The obtained values of segregation frequencies for these tumors have proved to be lower than the theoretically expected values for monogenic types of inheritance. A genetic and epidemiologic approach, employed in the tumors analysis, has demonstrated the multifactorial nature of these tumors: the contribution of the genetic factors in mammary carcinoma has made up 52%, in gastric carcinoma 22% for male and 41.1% for female subjects, with the X-chromosome-linked genetic components making up 19%. The studies have shown the possibility of genetic heterogeneity of the tumor forms, identically localized. Basing on these data, the authors have plotted 'repeated risk tables' to assess the potentiality of new cases of the disease in the patients' families; such tables may be useful for practical medicogenetic counselling.

摘要

作者总结了对2460例患有最常见肿瘤(即胃癌、乳腺癌、黑色素瘤)患者的临床和系谱检查结果。这些肿瘤的分离频率所得值已被证明低于单基因遗传类型的理论预期值。在肿瘤分析中采用的遗传和流行病学方法已证明这些肿瘤具有多因素性质:遗传因素在乳腺癌中的贡献率为52%,在胃癌中,男性为22%,女性为41.1%,其中X染色体连锁遗传成分占19%。研究表明,相同定位的肿瘤形式存在遗传异质性的可能性。基于这些数据,作者绘制了“复发风险表”,以评估患者家庭中该疾病新病例的可能性;此类表格可能对实际的医学遗传学咨询有用。

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