Table 2 Support for a Role in Cancer for the 14 Associated Genes. Prior supportive evidence for genes associated with breast cancer in the aggregation test was based on presence of pathogenic cancer mutations in those, based on ClinVar and curated genetic reference database Genetics Home Reference and aggregation database Malacards. In addition, hit genes were queried in the COSMIC Cancer Gene Census database
Causal evidence in breast cancer | Causal evidence in any cancer | |||||||
|---|---|---|---|---|---|---|---|---|
Locus (hg38) | Gene | ClinVar | Genetics Home Reference | Malacards Score > 1 | ClinVar | Genetics Home Reference | Malacards Score > 1 | Cancer Gene Census [TIER1;TIER2;NO] |
chr1:121,167,646–121,392,822 | FAM72B | NO | NO | NO | NO | NO | NO | NO |
SRGAP2C | NO | NO | NO | NO | NO | YES | NO | |
chr4:53,377,839–54,295,272 | AC058822.1 | NA | NA | NA | NA | NA | NA | NA |
chr4:83,459,517–83,523,348 | ABRAXAS1a | NO | NO | NO | NO | NO | NO | NO |
chr5:56,815,574–56,971,675 | MAP3K1 | NO | YES | YES | YES | NO | YES | TIER1 |
MIER3 | NO | NO | NO | NO | NO | NO | NO | |
chr6:26,457,904–26,476,621 | BTN2A1 | NO | NO | NO | NO | NO | NO | NO |
chr10:121,478,334–121,598,458 | FGFR2 | NO | YES | YES | YES | YES | YES | TIER1 |
chr11:1,852,970–1,938,706 | TNNT3 | NO | NO | NO | NO | NO | NO | NO |
LSP1 | NO | NO | NO | NO | NO | YES | NO | |
chr12:49,636,499–49,708,165 | FMNL3 | NO | NO | NO | NO | NO | YES | NO |
chr19:43,766,533–43,901,385 | KCNN4 | NO | NO | NO | NO | NO | NO | NO |
LYPD5 | NO | NO | NO | NO | NO | NO | NO | |
ZNF404 | NO | NO | NO | NO | NO | NO | NO | |