Table 2.
Shared mutations identified in pairs of LCIS - ILC lesions.
| Case number |
Lesion | Side Quadrant |
CDH1 | PIK3CA | CBFB | PKHD1L1 | RUNX1 | MAP3K1 | CDC25B | RELN | HERC2 | PCNXL2 | PDGFRA | ABCA13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 10 | LCIS1¥ | R-UOQ | Q23* (21%) | H1047L (22%) | V4L (27%) | - | - | - | - | - | - | - | - | - |
| ILC¥ | R-UOQ | Q23* (34%) | H1047L (20%) | V4L (16%) | - | - | - | - | - | - | - | - | - | |
| LCIS2 | R-UIQ | Q23* (18%) | H1047L (22%) | V4L (19%) | - | - | - | - | - | - | - | - | - | |
| ILC | R-UOQ | Q23* (34%) | H1047L (20%) | V4L (16%) | - | - | - | - | - | - | - | - | - | |
| 13 | LCIS1 | L-UOQ | E336_splice (25%) | - | - | V1686I (17%) | - | - | - | - | - | - | - | - |
| ILC | L-UIQ | E336_splice (11%) | - | - | V1686I (16%) | - | - | - | - | - | - | - | - | |
| LCIS2 | L-LOQ | E336_splice (7%) | - | - | V1686I (10%) | - | - | - | - | - | - | - | - | |
| ILC | L-UIQ | E336_splice (11%) | - | - | V1686I (16%) | - | - | - | - | - | - | - | - | |
| 24 | LCIS1¥φ | R-LOQ | F730fs (17%) | H1047R (20%) | Q67H (26%) | - | - | - | - | - | - | - | - | - |
| ILC¥φ | R-LOQ | F730fs (10%) | H1047R (12%) | Q67H (20%) | - | - | - | - | - | - | - | - | - | |
| 28 | LCIS¥ | L-UIQ | D367fs (33%) | - | - | - | L71fs (29%) | - | - | - | - | - | - | - |
| ILC¥ | L-UIQ | D367fs (61%) | - | - | - | L71fs (36%) | - | - | - | - | - | - | - | |
| 29 | LCIS¥ | R-LIQ | Q23* (29%) | N345K (16%) | - | - | - | S416* (7%) | - | - | - | - | - | - |
| ILC¥ | R-LIQ | Q23* (48%) | N345K (28%) | - | - | - | S416* (16%) | - | - | - | - | - | - | |
| 31 | LCIS¥ | L-UOQ | E547* (35%) | - | - | - | - | - | R175Q (24%) | - | - | - | - | - |
| ILC¥ | L-UOQ | E547* (54%) | - | - | - | - | - | R175Q (33%) | - | - | - | - | - | |
| 33 | LCIS¥ | R-UOQ | - | - | - | - | - | - | - | - | - | R1215W (11%) | - | - |
| ILC¥ | R-UOQ | - | - | - | - | - | - | - | - | - | R1215W (14%) | - | - | |
| 38 | LCIS¥φ | R-UOQ | 522_splice (16%) | D350N (10%) E545K (15%) |
- | - | - | - | - | - | - | - | E289K (15%) | Q4805Q (14%) |
| ILC¥φ | R-UOQ | 522_splice (10%) | D350N (16%) E545K (20%) |
- | - | - | - | - | - | - | - | E289K (13%) | Q4805Q (9%) | |
| 48 | LCIS1¥φ | L-UOQ | 571_splice (56%) | - | - | - | - | - | - | - | - | - | - | - |
| ILC¥φ | L-UOQ | 571_splice (32%) | - | - | - | - | - | - | - | - | - | - | - | |
| 52 | LCIS¥ | R-UOQ | I248fs (21%) | H1047R (14%) | - | - | - | - | - | - | - | - | - | - |
| ILC¥ | R-UOQ | I248fs (22%) | H1047R (17%) | - | - | - | - | - | - | - | - | - | - | |
| 54 | LCIS¥ | L-UOQ | L714fs (6%) | E542K (13%) | - | - | - | - | - | - | R3668Q (14%) | - | - | - |
| ILC¥ | L-UOQ | L714fs (6%) | E542K (15%) | - | - | - | - | - | - | R3668Q (17%) | - | - | - | |
| 55 | LCIS¥ | R-UOQ | - | H1047R (19%) | - | - | - | - | - | T429S (20%) | - | - | - | - |
| ILC¥ | R-UOQ | - | H1047R (18%) | - | - | - | - | - | T429S (16%) | - | - | - | - |
ILC, invasive lobular cancer; L, left side; LCIS, lobular carcinoma in situ; LIQ, lower inner quadrant; LOQ, lower outer quadrant; MAF, mutant allele fraction; R, right side; UIQ, upper inner quadrant; UOQ, upper outer quadrant;
¥
same quadrant;
φ
samples also subjected to whole-exome sequencing. For each gene/ mutation, the amino acid change and the mutant allele fraction are shown. Shared mutations were identified in 14/19 pairs of LCIS-ILC.