Godet Inês, Gilkes Daniele M
Department of Oncology, The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, USA.
Department of Chemical and Biomolecular Engineering, The Johns Hopkins University, USA.
Integr Cancer Sci Ther. 2017 Feb;4(1). doi: 10.15761/ICST.1000228. Epub 2017 Feb 27.
Breast cancer is a global burden with a woman's lifetime risk of developing breast cancer at 1 in 8. Although breast cancer is a disease that affects mostly women, the lifetime risk in men is about 1 in 1000. Most cases of breast cancer are associated with somatic mutations in breast cells that are acquired during a person's lifetime. In this scenario, the mutations are not inherited and they do not cluster in families. In hereditary breast cancer, the specific genetic factors involved will determine the inherited cancer risk. Inherited mutations in the or genes have been well-described, but mutations in , and also confer breast cancer risk. Understanding the functional significance of hereditary mutations has opened new paths for breast cancer prevention and is uncovering promising treatment strategies.
乳腺癌是一项全球性负担，女性一生中患乳腺癌的风险为八分之一。尽管乳腺癌主要是一种影响女性的疾病，但男性一生中患乳腺癌的风险约为千分之一。大多数乳腺癌病例与人体一生中乳腺细胞获得的体细胞突变有关。在这种情况下，这些突变不会遗传，也不会在家族中聚集。在遗传性乳腺癌中，所涉及的特定遗传因素将决定遗传的癌症风险。BRCA1或BRCA2基因的遗传突变已得到充分描述，但PALB2、ATM和CHEK2基因的突变也会增加患乳腺癌的风险。了解遗传性突变的功能意义为乳腺癌预防开辟了新途径，并正在揭示有前景的治疗策略。
