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.
**Acronyms: BCC=basal cell carcinoma, CRC=colorectal cancer, SCC=squamous cell carcinoma
Table 1: Examples of cancer predisposing syndromes with known underlying genetic abnormality for which testing is available in the US.