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Table 2 Significant rare mutations identified in TCGA CRC European American (EA) 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 EA colon MAF (%)

EVS EA MAF (%)

EA individual P-values

CEACAM1: NM_001184815

42527262

missense

probably-damaging: 1.0

c.203A > G

p.(Y68C)

0.503

0.070

0.046

CEACAM4: NM_001817

41625657

missense

benign: 0.325

c.368G > A

p.(R123E)

0.503

0.000

0.002

CEACAM8: NM_001816

42589735

missense

benign: 0.005

c.425C > T

p.(P142L)

0.503

0.012

0.006

CEACAM18: NM_001080405

51483229

missense

probably-damaging: 1.0

c.1069T > G

p.(C357G)

0.503

0.059

0.036

51483284

missense

benign: 0.013

c.1124A > G

p.(Q375R)

0.503

0.059

0.036

CEACAM19: NM_020219

44681293

missense

benign: 0.01

c.773G > C

p.(R258T)

1.005

0.093

0.001

CEACAM20: NM_001102597

44512936

missense

benign: 0.062

c.1445C > T

p.(T482I)

0.503

0.000

0.002