乳腺癌易感综合征。

Breast cancer predisposition syndromes.

机构信息

Department of Medicine, Hospital of the University of Pennsylvania, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA.

出版信息

Hematol Oncol Clin North Am. 2010 Oct;24(5):799-814. doi: 10.1016/j.hoc.2010.06.004.

DOI:10.1016/j.hoc.2010.06.004

PMID:20816575

Abstract

A small, but important, percentage of breast cancer cases is caused by the inheritance of a single copy of a mutated gene. BRCA1 and BRCA2 are the genes most commonly associated with inherited breast cancer; however, mutations in TP53 and PTEN cause Li-Fraumeni syndrome and Cowden syndrome, respectively, both of which are associated with high lifetime risks of breast cancer. Advances in the field of breast cancer genetics have led to an improved understanding of detection and prevention strategies. More recently, strategies to target the underlying genetic defects in BRCA1- and BRCA2-associated breast and ovarian cancers are emerging and may have implications for certain types of sporadic breast cancer.

摘要

一小部分，但重要的是，乳腺癌病例是由单个突变基因的遗传引起的。BRCA1 和 BRCA2 是最常与遗传性乳腺癌相关的基因；然而，TP53 和 PTEN 中的突变分别导致 Li-Fraumeni 综合征和 Cowden 综合征，这两种综合征都与乳腺癌的终身高风险相关。乳腺癌遗传学领域的进展导致了对检测和预防策略的更好理解。最近，针对 BRCA1 和 BRCA2 相关的乳腺癌和卵巢癌中潜在遗传缺陷的靶向策略正在出现，并且可能对某些类型的散发性乳腺癌有影响。