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遗传学、生物标志物与乳腺癌控制:综述

Genetics, biomarkers, and control of breast cancer: a review.

作者信息

Lynch H T, Albano W A, Heieck J J, Mulcahy G M, Lynch J F, Layton M A, Danes B S

出版信息

Cancer Genet Cytogenet. 1984 Sep;13(1):43-92. doi: 10.1016/0165-4608(84)90087-6.

Abstract

More has been written about the epidemiology of breast cancer than possibly any other form of cancer affecting mankind. However, in the face of this intense interest, only a paucity of attention has been given to the role of genetics in its etiology. This review represents an attempt by the investigators to provide a comprehensive coverage of hereditary breast cancer. Included are pertinent endogeneous and exogeneous risk factors, which in certain circumstances, may significantly influence the role of primary genetic factors. Hereditary breast cancer is heterogeneous. When discussing the subject, therefore, one must be precise relevant to the particular heterogeneous form of concern, based on differing tumor associations. It is probably not appropriate to discuss "hereditary breast cancer" without qualification of the specific hereditary breast cancer syndrome of concern; i.e., the SBLA syndrome, breast/ovarian cancer syndrome, and others. This reasoning also applies to attempts at linking biomarkers to hereditary breast cancer. Finally, in addition to ongoing discussions on the cardinal principles that associate with hereditary forms of breast cancer, its frequency, and new developments in biomarkers, we have provided surveillance/management programs that embrace those facets of the natural history of this disease.

摘要

关于乳腺癌流行病学的著述可能比其他任何影响人类的癌症形式都要多。然而,尽管人们对此极为关注,但对遗传学在其病因学中的作用却关注甚少。本综述旨在由研究人员全面阐述遗传性乳腺癌。其中包括相关的内源性和外源性风险因素,在某些情况下,这些因素可能会显著影响原发性遗传因素的作用。遗传性乳腺癌具有异质性。因此,在讨论这个主题时,必须根据不同的肿瘤关联,针对所关注的特定异质性形式做到精确阐述。在未明确所关注的特定遗传性乳腺癌综合征(即SBLA综合征、乳腺/卵巢癌综合征等)的情况下讨论“遗传性乳腺癌”可能并不合适。这一推理同样适用于将生物标志物与遗传性乳腺癌相联系的尝试。最后,除了正在进行的关于与遗传性乳腺癌相关的基本原则、其发病率以及生物标志物新进展的讨论之外,我们还提供了涵盖该疾病自然史这些方面的监测/管理方案。

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