Genetic and genomic testing assists in determining susceptibility to inherited disease. Genetic testing for cancer predisposition has traditionally been done by looking at one gene at a time. With advances in technology, multiple genes can be evaluated in parallel through one test — this is referred to as panel testing or multiplex testing. New technologies such as whole genome or exome testing (evaluation of the complete set of DNA) of a person or a tumor may identify hereditary cancer predisposition.
Genes We Test
What is Panel Genetic Testing?
Genetic counselor Jill Stopfer, MS, LGC, describes panel genetic testing: what it is, how it compares to other types of testing, and how it may help individuals who may be at risk for certain types of cancer based on their personal and family history.
Hereditary Cancer Genes
Explore information about genes we test and how they may relate to certain conditions and syndromes.
Information about these genes changes as the field of genetics advances and we learn more. These information sheets are only as up to date as noted by the version date.
The information on this page is not designed to and does not provide medical advice or professional diagnosis. Medical recommendations should be discussed with a healthcare provider who has expertise in hereditary cancer conditions. Any information mentioned here is meant as a general guide, and may change based on personal risk factors and family history.
For the most up-to-date and accurate information, please contact us to schedule a visit in our clinic.
A
APC Attenuated: Familial Adenomatous Polyposis (FAP) and Attenuated Familial Adenomatous Polyposis
APC Classical: Familial Adenomatous Polyposis (FAP) and Classical Familial Adenomatous Polyposis
APCI1307K: Colorectal Cancer
ATM: Hereditary Breast Cancer
B
BAP1: BAP1 Syndrome
BARD1: Hereditary Breast Cancer
BLM: Bloom Syndrome
BMPR1A: Juvenile Polyposis
BRCA1: Hereditary Breast and/or Ovarian Cancer, Familial Pancreatic Cancer
BRCA2: Hereditary Breast and/or Ovarian Cancer, Familial Pancreatic Cancer
BRIP1: Hereditary Ovarian Cancer
BUB1B: Mosaic Variegated Aneuploidy (MVA) Syndrome
C
CDK4: Hereditary Melanoma
CDH1: Female Breast Cancer, Stomach Cancer
CDKN2A: Familial Pancreatic Cancer, Hereditary Melanoma
CHEK2: Hereditary Breast Cancer
CTNNA1: Stomach Cancer, Other Cancers
CTRC: Pancreatitis
D
DDX41: Myelodysplastic Syndrome (MDS), Acute Myeloid Leukemia (AML), Other Cancers
DICER1: DICER1 Syndrome
E
EGFR: Lung Cancer
EPCAM: Lynch Syndrome or Hereditary Nonpolyposis Colorectal Cancer, Familial Pancreatic Cancer
F
FANCC: Fanconi anemia
FH: Paraganglioma and Pheochromocytoma Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
FLCN: Birt-Hogg-Dubé Syndrome
L
LZTR1: Schwannomatosis, Noonan Spectrum Disorder (NSD)
M
MAX: Paraganglioma and Pheochromocytoma Syndrome
MBD4 Carrier: Uveal Melanoma
MEN1: Parathyroid Gland Tumors, Pituitary Gland Tumors, Neuroendocrine Tumors
MITF: Malignant Melanoma, Renal Cell Carcinoma
MLH1: Lynch Syndrome or Hereditary Nonpolyposis Colorectal Cancer, Familial Pancreatic Cancer
MSH2: Lynch Syndrome or Hereditary Nonpolyposis Colorectal Cancer, Familial Pancreatic Cancer
MSH3 Biallelic: Polyposis, Colorectal Cancer
MSH3 Carrier: Polyposis
MSH6: Lynch Syndrome or Hereditary Nonpolyposis Colorectal Cancer
MUTYH Biallelic: MUTYH-Associated Polyposis (MAP) Syndrome, Colon Polyps and Colon Cancer
MUTYH Carrier: Colon Polyps
N
NBN Biallelic: Nijmegen breakage syndrome
NBN Carrier
NF1: Neurofibromatosis, Paraganglioma and Pheochromocytoma Syndrome
NTHL1 Biallelic: Colorectal Cancer, Female Breast Cancer, Endometrial Cancer
P
PALB2: Hereditary Breast and/or Ovarian Cancer
PMS2: Lynch Syndrome or Hereditary Nonpolyposis Colorectal Cancer
POT1: Melanoma, Chronic Lymphocytic Leukemia (CLL), Angiosarcoma, Glioma
PTEN: Cowden Syndrome
R
RAD50: Hereditary Breast and/or Ovarian Cancer
RAD51C: Hereditary Breast and/or Ovarian Cancer
RAD51D: Hereditary Breast and/or Ovarian Cancer
RET: Paraganglioma and Pheochromocytoma Syndrome, Multiple Endocrine Neoplasia Type 2A, 2B and Familial Medullary Thyroid Cancer
RUNX1: Blood Cancers, Thrombocytopenia, Skin Conditions
S
SDHA: Paraganglioma and Pheochromocytoma Syndrome
SDHAF2: Paraganglioma and Pheochromocytoma Syndrome
SDHB: Paraganglioma and Pheochromocytoma Syndrome
SDHC: Paraganglioma and Pheochromocytoma Syndrome
SDHD: Paraganglioma and Pheochromocytoma Syndrome
SMAD4: Juvenile Polyposis
SMARCA4: Small cell carcinoma of the ovary - hypercalcemic type (SCCOHT), Rhabdoid Tumor
SPINK1: Pancreatitis
STK11: Familial Pancreatic Cancer, Peutz-Jeghers Syndrome
T
TMEM127: Paraganglioma and Pheochromocytoma Syndrome
TP53: Li-Fraumeni Syndrome
V
VHL: Paraganglioma and Pheochromocytoma Syndrome, Von Hippel-Lindau Syndrome