Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Circuito Mario de la Cueva, Coyoacán, Ciudad Universitaria, C.P. 04510, Mexico City, Mexico; Unidad de Investigación en Epidemiología, Subdivisión de Investigación Básica, Instituto Nacional de Cancerología, Av. San Fernando # 22, Col. Sección XVI, Delegación Tlalpan, C.P. 14080, Mexico City, Mexico.
Clínica de Cáncer Hereditario, Subdivisión de Investigación Básica, Instituto Nacional de Cancerlogía, Av. San Fernando # 22, Col. Sección XVI, Delegación Tlalpan, C.P. 14080, Mexico City, Mexico.
Mutat Res Rev Mutat Res. 2017 Oct;774:33-45. doi: 10.1016/j.mrrev.2017.08.001. Epub 2017 Aug 25.
Breast cancer (BC) in young women, generally defined in oncology as women who are 40 years of age or younger, represents 2 out of 10 BC cases in developing countries. Several research studies, including genetic cancer panel tests, genome-wide association studies, expression analyses and polymorphisms reports, have found that young women with BC exhibit a higher genetic susceptibility and specific genomic signature compared to postmenopausal women with BC. Thus, international guidelines recommend genetic counseling for this age population. This review presents the current state of the art of genetics and genomics with regards to young women with BC.
年轻女性乳腺癌(BC),在肿瘤学中通常被定义为 40 岁或以下的女性,占发展中国家 BC 病例的 2/10。一些研究,包括基因癌症面板测试、全基因组关联研究、表达分析和多态性报告,发现与绝经后 BC 女性相比,年轻 BC 女性表现出更高的遗传易感性和特定的基因组特征。因此,国际指南建议对此年龄段的人群进行遗传咨询。本文综述了目前年轻 BC 女性遗传学和基因组学的最新进展。