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. 2018 Jun 20;245(4):456–467. doi: 10.1002/path.5099

Table 1.

Somatic functional inactivating CTNNA1 mutations and breast cancer phenotype

Sample ID CTNNA1 status Diagnosis CDH1
AA change Copy # mRNA Initial Revised
TCGA‐EW‐A1OV‐01 R129* ShallowDel 0% IDC‐NOS Mixed IDL WT
MB‐3600 X101_s ShallowDel 1% IDC‐NOS IDC‐NOS WT
TCGA‐AC‐A3TM‐01 R54C Diploid 21% ILC Ducto‐lobular MUT
MB‐4667 Q887* Diploid 27% ILC PILC MUT
TCGA‐A2‐A1FX‐01 X634_s Gain 37% IDC‐NOS Mixed IDL WT
MB‐7157 K733* Diploid 40% IDC‐NOS IDC‐NOS WT
MB‐5431 D904A ShallowDel 61% IDC‐NOS IDC‐NOS WT
TCGA‐AN‐A046‐01 R98* Diploid 64% IDC‐NOS IDC‐NOS WT
MB‐6107 R126Q Diploid 73% ILC ILC MUT
MB‐5455 R300C Diploid 78% Mixed IDL Mixed IDL WT
MB‐5584 R586C Diploid 78% ND ND WT
TCGA‐BH‐A18U‐01 S558 L Gain 81% IDC‐NOS IDC‐NOS WT
MB‐6211 A224T Gain 85% IDC‐NOS Ducto‐lobular WT
TCGA‐A8‐A0A6‐01 V688G Diploid 87% ILC ILC MUT
MB‐0653 D114H Diploid 91% ILC (solid) ILC (solid) MUT
MB‐4855 A885V Gain 92% IDC‐NOS IDC‐NOS WT
MB‐5284 P462L Diploid 92% Mixed IDL IDC‐NOS WT
TCGA‐AN‐A0XW‐01 E432Q Diploid 92% IDC‐NOS IDC‐NOS WT
MTS‐T0697 E406* ShallowDel ND IDC‐NOS IDC‐NOS WT

AA = amino acid; IDC‐NOS = invasive ductal carcinoma, not otherwise specified; ILC = invasive lobular carcinoma; PILC = pleomorphic ILC; IDL = invasive ductal and lobular; ND = no data; WT = wild type; MUT = mutant; _s = splice;

Mutations in bold are potentially pathogenic.

Contains signet ring cells;

40% mRNA expression.