. 2021 Dec 3;11(12):1287. doi: 10.3390/jpm11121287

Table 4.

Several significant HRD-predisposing gene associations.

Cancer	Gene	Population	Previous Reports		Identified Variant (GRCh38)	REVEL Score ¹	Clinvar ²
Cancer	Gene	Population	Same Population	Other Population	Identified Variant (GRCh38)	REVEL Score ¹	Clinvar ²
BRCA	BAP1	White	Shahriyari et al. (2019)		3:52442072-T/C	0.829	pathogenic
	BAP1	African American/Black	Shahriyari et al. (2019)		3:52442072-T/C	0.829	pathogenic
	BLM	White		Cybulski et al. (2019)	15:91312388-C/T	0.677	uncertain significance
	BLM	African American/Black		Cybulski et al. (2019)	15:91312388-C/T	0.677	uncertain significance
OV	ERCC5	White	Doherty et al. (2011)		3:103525633-G/T	0.939	pathogenic
OV	ERCC5	African American/Black		Doherty et al. (2011)	3:103525633-G/T	0.939	pathogenic
STAD	ATM	White	Helgason et al. (2015)		11:108141997-C/T	0.739	uncertain significance
	ATM	Asian	Cai et al. (2015)		11:108141997-C/T	0.739	uncertain significance
	MSH6	White		Karpińska-Kaczmarczyk et al. (2016)	2:48028049-G/A	0.857	uncertain significance
	MSH6	Asian		Karpińska-Kaczmarczyk et al. (2016)	2:48028049-G/A	0.857	uncertain significance
	PTEN	African American/Black		Nemtsova et al. (2020)	10:89692905-G/A	0.976	likely pathogenic, pathogenic

¹ REVEL scores above 0.5 represent likely disease-causing variants. ² Five levels of variants defined in ClinVar database are as follows: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign.