Cholangiocarcinoma is associated with several different risk factors, many of which have known genetic associations. Advances in our understanding of the human genome have translated to the development of gene specific and whole genome assays for identifying gene variants and other alterations associated with cancer development. An improved understanding of the inherited genetic variants associated with risk of cholangiocarcinoma has the potential to improve our understanding of the basic biology of cholangiocarcinoma, enhance the performance of risk stratification models for identifying individuals at highest risk for cholangiocarcinoma, and identifying genetic variants associated with predisposition to cholangiocarcinoma in families with multiple affected individuals. It is increasingly recognized that major cancer-causing mutations or other gene alterations associated with familial risk of multiple cancers can also occur as germline events in individuals with apparently sporadically occurring cancer. In this chapter we review the major risk factors for cholangiocarcinoma as well as known gene variants associated with these risk factors, gene variants that have been associated with cholangiocarcinoma as the result of interrogation of candidate genes known to be associated with putative cancer causing pathways in cholangiocarcinoma, as well as the prevalence of major cancer causing genetic aberrations shown to be inherited in the germline of patients with sporadically developed cholangiocarcinoma. There has not yet been any large-scale genome wide association study of cholangiocarcinoma, and the results from such a study are eagerly anticipated.

Mikayla A Schmidt

Lewis R Roberts

Advances in cancer research

癌症研究进展 (ACR) 涵盖了一段非凡的发现时期，其中包括生物学革命的开始。癌症研究进展 (ACR) 涵盖了一段非凡的发现时期，其中包括生物学革命的开始。第一本 ACR 卷出版于 WATSON 和 CRICK 报道生物学中心法则 DNA 双螺旋的那一年。在前 100 卷中，发现了一些帮助塑造这场革命的人的许多贡献，他们在癌症研究中取得了许多显着的发现，并由此发展而来。

Advances in Cancer Research covers significant advancements in the field of cancer research, marking the beginning of a biological revolution. The first volume was published in the same year that Watson and Crick reported the double helix structure of DNA. In the first 100 volumes, numerous contributions from scientists who shaped this revolution led to significant discoveries in cancer research, driving the development of the field.

《Advances in Cancer Research》涵盖了癌症研究领域的重大进展，标志着生物学革命的开端。第一卷的出版恰逢沃森和克里克报道DNA双螺旋结构的那一年。在前100卷中，许多为这场革命做出贡献的科学家们在癌症研究中取得了显著的发现，这些发现推动了该领域的发展。

Advances in Cancer Research

Adv Cancer Res

Understanding the genetic basis for cholangiocarcinoma.

This chapter reviews the major risk factors for cholangiocarcinoma as well as known gene variants associated with these risk factors, and the prevalence of major cancer causing genetic aberrations shown to be inherited in the germline of patients with sporadically developed cholangsiocARCinoma.

Category	Quartile
医学	2
医学, 肿瘤学	3

Understanding the genetic basis for cholangiocarcinoma.

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