Table 3.
Deleterious mutations by cancer site *
| Cancer Site |
Patients with Mutations, Overall N (%) |
Patients with Target Mutations N (%) |
Target Genes Identified (N observations) |
Patients with Panel Added Mutations, N (%) |
Panel-added gene mutations identified (N observations) |
|---|---|---|---|---|---|
| Breast N=197 |
28 (14.2%) | 14 (7.1%) | BRCA1 (7) BRCA2 (6) CDH1 (1) | 14 (7.1%) |
BARD1 (1)c
CDH1 (3) CHEK2 (3) MUTYH (3) PALB2 (2)c RAD50 (1) RAD51D (1) TP53 (1) |
| Colorectal N=86 |
17 (19.8%) | 14 (16.3%) |
APC (5) EPCAM (1)d
MLH1 (3) MSH2 (1)d MUTYH (3)e PMS2 (2) |
3 (3.5%) | PALB2 (1) RAD50 (1) RAD51C (1) |
| Ovarian N=41 |
8 (19.5%) | 4 (9.8%) | BRCA1 (2) BRCA2 (2)a | 5 (12.2%) | ATM (3)a MUTYH (2) |
| Endometrial N=24 |
5 (20.8%) | 3 (12.5%) | MSH2 (1) MSH6 (1) MUTYH (1) | 2 (8.3%) | PALB2 (1) RAD51D (1) |
| Gastric N=16 |
2 (12.5%) | 0 (0%) | 2 (12.5%) | ATM (1) BRCA2 (1) | |
| Other N=58 |
14 (24.1%) | 7 (12.1%) |
APC (1) BRCA2 (3) KIT (1)b MLH1 (1) NF1 (1) |
8 (13.7%) |
ATM (3)b
EXO1 (1) FLCN (1) MSH2 (1) MUTYH (1) PALB2 (1) |
*
Patients with more than one type of cancer are included in more than one category
a
One patient with ovarian cancer had both ATM and BRCA2 mutations
b
Patient with GIST had ATM and KIT mutations
c
Patient with breast cancer had BARD1 and PALB2 mutations
d
Patient with family history of colon with MSH2 and EPCAM mutations, likely representing a contiguous gene deletion
e
One colorectal cancer patient with biallelic MUTYH mutations