Hereditary Cancer and Genetic Testing

Genes with mutations linked to hereditary cancer risk

Inherited mutations have been linked to many different types of mutations. Some types of cancer are more likely to be hereditary. Below is a list of common cancers, and the most common genes that have been linked to increased risk for each.

Cancer Genes
Breast cancer in women

ATMBARD1BRCA1BRCA2, BRIP1CHEK2,  CDH1, NF1PALB2PTEN, RAD51C, RAD51DSTK11TP53

Breast cancer in men

BRCA1BRCA2CHEK2PALB2

Colorectal cancer

APC, EPCAMMLH1MSH2MSH6PMS2CHEK2PTENSTK11TP53, MUTYH  

Endometrial cancer

BRCA1*, EPCAMMLH1MSH2MSH6PMS2PTENSTK11

Fallopian tube, ovarian, primary peritoneal cancer

ATMBRCA1BRCA2BRIP1EPCAMMLH1,  MSH2,  MSH6NBN**, PALB2RAD51C, RAD51D, STK11***

Gastric cancer

APC, CDH1STK11, EPCAMMLH1MSH2MSH6PMS2**

Melanoma

BAP1 (especially uveal melanoma), BRCA2 CDK4CDKN2APTENTP53

Pancreatic cancer

ATMBRCA1BRCA2CDKN2AEPCAM**, MLH1,  MSH2**, MSH6**, PALB2STK11TP53

Prostate cancer

ATMBRCA1BRCA2CHEK2,HOXB13, PALB2EPCAM**, MLH1**, MSH2**, MSH6**,  PMS2**

*BRCA1 mutations have been linked to a very rare but aggressive type of cancer known as serous endometrial cancer. The lifetime risk for endometrial cancer is not increased in women with BRCA1 mutations, but there is a small increase in risk for this rare subtype. 

**More research is needed to confirm a link between this cancer type and an inherited mutation in this gene.

*** Most ovarian tumors in people with this mutation are benign.

Last updated September 26, 2021