Table 1 Significant rare mutations identified in TCGA CRC African American (AA) cohort
From: An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
Gene | Chr 19 position | Mutation type | Functional prediction—polyphen | cDNA change | Protein change | TCGA AA Colon MAF (%) | EVS AA MAF (%) | AA individual P-values |
|---|---|---|---|---|---|---|---|---|
CEACAM3: NM_001815 | 41797807 | missense | benign: 0.159 | c.283T > A | p.(Y95N) | 5.208 | 0.894 | 0.002 |
CEACAM8: NM_001816 | 42589003 | missense | benign: 0.001 | c.739A > G | p.(T247A) | 4.167 | 0.931 | 0.015 |