PALB2与前列腺癌研究进展

Research Progress in PALB2 and Prostate Cancer

PALB2携带者的前列腺癌风险尚未得到广泛研究,DNA测序技术的进步已经发现了几个中高外显率的前列腺癌易感基因,其中大部分与以前已知的遗传性肿瘤相关,即遗传性乳腺癌和卵巢癌(BRCA1、BRCA2、ATM、CHEK2和PALB2),随着新一代测序(NGS)技术的不断进步,以同时分析多个易感基因为特征的分子诊断新时代已经导致在多个中高外显率基因中鉴定出罕见变异。GWAS报告了许多具有适度影响的常见位点,这些位点结合起来可以解释遗传性前列腺癌的很大一部分。然而,这些风险位点的临床效应仍不确定。尽管这些研究中报告的PALB2畸变很少见,但最近的发现支持PALB2在该疾病中的作用越来越大,尤其是在转移性前列腺癌的临床管理中。本文就PALB2及PALB2突变在前列腺癌的相关性研究进行讨论。

The risk of prostate cancer in PALB2 carriers has not been widely studied,and advances in DNA sequencing technology have discovered several prostate cancer genes with moderate to high penetrance,most of which are associated with previously known hereditary tumors,namely hereditary breast and ovarian cancers (BRCA1,BRCA2,ATM,CHEK2,and PALB2),with the continuous advancement of next-generation sequencing (NGS) technology,a new era of molecular diagnosis characterized by simultaneous analysis of multiple genes has led to the identification of rare variants in multiple genes with moderate to high penetrance.GWAS report a number of common loci with modest effects that,in combination,may explain a large portion of hereditary prostate cancer.However,the clinical utility of these risk loci remains uncertain.Although PALB2 aberrations reported in these studies are rare,recent findings support an increasing role for PALB2 in this disease,particularly in the clinical management of metastatic prostate cancer.In this paper,we discuss the correlation between PALB2 as well as PALB2 mutations in prostate cancer.