Research Papers:

Inherited DNA-repair gene mutations in African American men with prostate cancer

Oliver Sartor _, Shan Yang, Elisa Ledet, Marcus Moses and Piper Nicolosi

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Oncotarget. 2020; 11:440-442. https://doi.org/10.18632/oncotarget.27456

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Oliver Sartor1, Shan Yang2, Elisa Ledet1, Marcus Moses1 and Piper Nicolosi2

1 Tulane Cancer Center, Tulane University of School of Medicine, New Orleans, Louisiana, United States

2 Invitae Corporation, Genetics, San Francisco, California, United States

Correspondence to:

Oliver Sartor,email: [email protected]

Keywords: prostate cancer; DNA repair; BRCA; African American; ethnicity

Received: October 24, 2019     Accepted: January 04, 2020     Published: January 28, 2020


African American men with prostate cancer are understudied relative to Caucasians with prostate cancer with regard to testing for pathogenic germline DNA repair gene mutations. Herein we evaluate these two populations in a large commercial dataset and compare the detection of pathogenic/likely pathogenic alterations in 14 well annotated DNA repair genes (BRCA2, BRCA1, PALB2, ATM, RAD51C, CHEK2, PMS2, BARD1, BRIP1, MLH1, MSH2, MSH6, NBN, and RAD51D). Overall, pathogenic or likely pathogenic alterations in these 14 DNA repair genes were less likely to be detected in African Americans as compared to Caucasians. Upon a more in-depth analysis, the risk of germline pathogenic/likely pathogenic BRCA mutations was similar between the two populations whereas there was a lower risk among African Americans for the non-BRCA mutations. No African American men were noted to have mutations in BARD1, BRIP1, MLH1, MSH2, MSH6, NBN, and RAD51D in this data set. Stage, grade, and metastatic status were not assessed in this group of patients. Larger and more detailed studies conducted in men with prostate cancer are required to confirm these findings.

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