Table 1.
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.