Table 4. Variants identified in more than one breast cancer-affected individual of the same ethnicity and associated with breast cancer risk.
| Gene Name | Chr | Start position (hg38) | Ref. Allele | Alt. Allele | Exon | DNA Change | Amino Acid Change | Protein Function | ACMG Classification | Number of BC cases with variant | Comparison between EA and AA BC cases | Population control comparison (EVS) | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EA | AA | p-value | AA MAF (%) | AA Alt. allele count | AA WT allele count | AA BC risk p-value* |
||||||||||
| ATM | chr11 | 108257519 | T | A | exon 15 | c.2289T>A | p.F763L | Missense | VUS | 0 | 2 | 0.128 | 0.14 | 6 | 4396 | 0.006 |
| BRCA2 | chr13 | 32337281_32337282 | TC | AT | exon 11 | c.2926_2927delinsAT | p.S976I*** | Missense | Likely benign | 0 | 3 | 0.044 | 0 | 0 | 4406 | 3.67 x 10−6 |
| RAD51D | chr17 | 35116931 | A | T | exon 3 | c.251T>A | p.L84H | Missense | Likely benign | 0 | 2 | 0.128 | 0.26 | 8 | 3128 | 0.019 |
(AA) African American; (ACMG) American College of Medical Genetics; (Alt.) Alternate; (BC) Breast cancer; (Chr) Chromosome; (EA) European American; (EVS) Exome Variant Server; (Ref.) Reference;
*p-values generated using Fisher’s Exact Test.