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, CHEK2, NBN, PALB2, PTEN, STK11, TP5|
|Colorectal||APC, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, TP53|
|Endometrial||EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53|
|Fallopian tube, ovarian and primary peritoneal||BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11|
|Gastric||APC, CDH1, EPCAM, MLH1, MSH2, MSH6, STK11|
|Melanoma||BRCA2, CDK4, CDKN2A, PTEN|
|Pancreatic||ATM, BRCA1, BRCA2, CDKN2A, MLH1, PALB2, STK11, TP53|
|Prostate||BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, NBN, PMS2, TP53|
- 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.