Germline Mutations in African American Men With Prostate Cancer: Incidence, Implications and Diagnostic Disparities

被引：4

作者：

Bree, Kelly K. ^{[1
]}

Hensley, Patrick J. ^{[1
]}

Pettaway, Curtis A. ^{[1
,2
]}

机构：

[1] Univ Texas MD Anderson Canc Ctr, Dept Urol, Houston, TX USA

[2] Univ Texas MD Anderson Canc Ctr, Dept Urol, 1515 Holcombe Blvd, Houston, TX 77030 USA

来源：

UROLOGY | 2022年 / 163卷

关键词：

AMP Exception; HOXB13 G84E MUTATION; BRCA2; MUTATIONS; RISK; REPAIR; GENE; ASSOCIATION; ANCESTRY; GENOMICS; BREAST; 8Q24;

D O I：

10.1016/j.urology.2021.08.017

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Recent data suggests that African American men (AAM) with prostate cancer (PCa) exhibit genetic alterations in highly penetrant germline genes, as well as low penetrant single nucleotide polymorphisms. The importance of germline variants of uncertain significance (VUS) remain poorly elucidated and given the elevated rates of VUS in AAM compared to Caucasians with PCa, further studies are needed to facilitate potential reclassification of VUS. Ongoing efforts to include AAM in genomics research is of paramount importance in order to ensure applicability of discoveries across diverse populations and potentially reduce PCa disparities as we embark on the era of precision medicine. UROLOGY 163: 148-155, 2022. (c) 2021 Elsevier Inc.

引用

页码：148 / 155

页数：8

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