BRCA 1 and 2:
BRCA1 and BRCA2 mutations are associated with aggressive PCa with higher
risk for nodal and distant metastasis as well as poor survival
outcome72. Two studies identify a similar rate of
BRCA2 somatic mutations among EAM and AAM (4.45-10.02% in EAM and
4.23-9.73% in AAM with metastatic PCa)6769.
In the case of germline variants, three separate multi-racial studies
identified an incidence of BRCA 1 germline mutation in 0.5-0.87% of EAM
compared to 0-2.0% in AAM (Table 1), and note a frequency of BRCA 2
germline mutation of 3.07-5.1% in EAM and 0-4% n AAM (Table
2)64 65 70 71. In a study comprised
of 2098 AAM and Ugandan men, making it the largest study of germline
mutation in African descendants, BRCA1 mutations were found in 0.72%
and BRCA2 mutations were identified in 2.1% of the metastatic PCa
patients73.