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家族性乳腺癌与参与乳腺癌发生的基因

Familial breast cancer and genes involved in breast carcinogenesis.

作者信息

Lindblom A

机构信息

Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.

出版信息

Breast Cancer Res Treat. 1995 May;34(2):171-83. doi: 10.1007/BF00665789.

Abstract

Breast cancer has often been reported to run in families, and the most important risk factor for the disease is a family history of breast cancer. Numerous pedigrees and segregation analyses have suggested an autosomal dominant transmitted susceptibility to breast cancer. Familial breast cancer occurs alone or associated with other cancers in clinically distinguishable syndromes. Such cases may be characterized by early onset, bilateral disease, prolonged survival, and anticipation, mainly seen as a higher penetrance or earlier onset in subsequent generations. Studies of patients and tumors from these families as well as sporadic cases have led to localization and/or identification of a number of genes implicated in breast carcinogenesis of familial and sporadic breast cancer.

摘要

乳腺癌常被报道具有家族聚集性,而该疾病最重要的风险因素是乳腺癌家族史。众多家系及分离分析表明,乳腺癌存在常染色体显性遗传易感性。家族性乳腺癌单独发生,或与其他癌症一起出现在临床上可区分的综合征中。此类病例的特征可能为发病早、双侧患病、生存期延长以及遗传早现,主要表现为后代中更高的外显率或更早发病。对这些家族的患者和肿瘤以及散发病例的研究,已导致定位和/或鉴定了许多与家族性和散发性乳腺癌致癌作用相关的基因。

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