家族遗传性前列腺癌的研究进展

Research progress of familial hereditary prostate cancer

家族遗传因素在前列腺癌发病中起重要作用。遗传性前列腺癌易感性相关基因包括错配修复基因(MLH1、MSH2、MSH6、PMS2)和同源重组基因(BRCA1/2、ATM、PALB2、CHEK2)等,单核苷酸多态性和拷贝数变异也在遗传突变中发挥作用。发病年龄早、疾病进展迅速和局部晚期是遗传性前列腺癌的主要特点。进行基因检测或遗传咨询,可使潜在的遗传性前列腺癌患者获益。本文就家族遗传性前列腺癌的流行现状、发病特点、易感基因等研究进展进行综述。

Hereditary prostate cancer has the highest hereditary rate in men cancers.Genes associated with hereditary prostate cancer susceptibility include mismatch repair genes(MLHI,MSH2,MSH6 and PMS2)and homologous recombination genes(BRCA1/2,ATM,PALB2,CHEK2),and single nucleotide polymorphisms and copy number variants also play a role in genetic mutations.Early onset,rapid disease progression and locally advanced stage are the main features of hereditary prostate cancer.Patients with potentially hereditary prostate cancer would benefit from undergoing genetic testing or counseling.This article reviews the current status of the prevalence,incidence characteristics,and etiology of familial hereditary prostate cancer and other research advances.