Cancer predisposing syndrome |
Malignancy |
Implicated gene(s) |
Minimal number of CLIA labs offering genetic testing |
Gorlin syndrome |
BCC** |
PTCH1* |
1 |
Bloom syndrome |
Broad range of leukemias, lymphomas and carcinomas |
RECQL3 |
21 |
Hereditary breast/ovarian cancer syndrome |
Breast and ovarian cancer |
BRCA1 |
7 |
BRCA2 |
6 |
Lynch syndrome |
CRC |
EPCAM |
9 |
MLH1 |
17 |
MLH3 |
1 |
MSH3 |
10 |
MSH6 |
14 |
PMS1 |
1 |
PMS3 |
12 |
Familial Adenomatous Polyposis (FAP) |
CRC |
APC |
16 |
Li-Fraumeni syndrome (LFS) |
A wide range of tumors: sarcomas, breast cancer, brain tumors, adrenal cortical carcinomas, leukemia |
TP53 |
14 |
Xeroderma pigmentosum |
Skin cancer
including BCC,
melanoma,
SCC |
ERCC3 |
1 |
POLH |
1 |
XPA |
2 |
XPC |
2 |
*Only those genes for which CLIA lab testing is available are shown here.