Hereditary Cancer and Genetic Testing

Cancers linked to inherited mutations

Cancers caused by an inherited mutation are called hereditary cancers. The remaining cancers - those not caused by an inherited mutation - are called sporadic cancers. Most cancers are sporadic, but overall, about 10-20% of cancers are believed to be caused by an inherited mutation. 

Some common cancer types and associated inherited mutations are listed in the table below. 

Type of cancer List of gene mutations
Breast ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2NBNPALB2PTEN, STK11TP5
Colorectal APC, CHEK2, EPCAM, MLH1, MSH2MSH6, MUTYH, PMS2PTENTP53
Endometrial EPCAMMLH1, MSH2MSH6PMS2PTENSTK11TP53
Fallopian tube, ovarian and primary peritoneal BRCA1BRCA2BRIP1RAD51CRAD51DEPCAMMLH1MSH2MSH6PMS2STK11
Gastric  APC, CDH1, EPCAM, MLH1, MSH2MSH6STK11
Melanoma BRCA2, CDK4CDKN2APTEN
Pancreatic ATMBRCA1BRCA2CDKN2AMLH1PALB2STK11TP53
Prostate BRCA1BRCA2EPCAMMLH1MSH2MSH6, NBNPMS2TP53
key-facts
  • Mutations in different genes increase the risk for different types of cancers. 
  • Hereditary breast and ovarian cancer syndrome (HBOC) refers to mutations in BRCA1 and BRCA2, which increase the risk for breast, ovarian, pancreatic, prostate and other cancers. 
  • Lynch syndrome refers to mutations in EPCAM, MLH1, MSH2, MSH6 and PMS2, which increase the risk for colorectal, endometrial and other cancers. 
Last updated May 23, 2020