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Genes Associated with Hereditary Cancers

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

Overview

BRCA1 and BRCA2 are the two most common genes associated with hereditary breast, ovarian, pancreatic and prostate cancer but other inherited genes are also associated with increased cancer risk. For many years, cancer genetic testing was focused mainly on testing for BRCA mutations and much research has been done on cancer risk and outcomes for people with these two mutations. In 2013, when the United States Supreme Court ruled against the patenting of genes, this opened the door for more laboratories to offer cancer genetic testing. It also led to the discovery of additional genes that can cause hereditary cancers.

Given these advances, many genetics labs now offer multigene panel tests, which look for mutations in several genes at the same time. Because multigene panel testing is relatively new, most of the gene mutations in panel tests have not been studied as well as BRCA1 and BRCA2. Less is known about the cancer risks associated with these newer genes. Experts have developed national medical guidelines to help health care providers and patients with mutations make decisions about managing their risk. Below are some of the genes that have national guidelines for care.

  • BRCA1 and BRCA2
  • Genes associated with Lynch Syndrome: MLH1MSH2MSH6PMS2, and EPCAM
  • PALB2
  • ATM
  • CHEK2
  • PTEN (Cowden Syndrome)
  • TP53 (Li-Fraumeni)
  • CDH1
  • STK11 (Peutz-Jeghers Syndrome)
  • NF1
  • NBN
  • BRIP1
  • RAD51C
  • RAD51D

Due to lack of long-term research on outcomes, some gene mutations included in multigene panel tests do not have national guidelines. Below is a list of gene mutations that do not have national guidelines for care.

  • BARD1
  • FANCC
  • MRE11A
  • RAD50
  • REQL4
  • RET1
  • RINT1
  • SLX4
  • SMARCA
  • XRCC2

Researchers are actively studying cancer risks and outcomes in people with new gene mutations in order to expand and improve guidelines for care. If you are interested in contributing to this research, visit our Research Search Tool to find studies enrolling people affected by hereditary cancer. PROMPT is a research registry that is enrolling people who have undergone panel testing. 

We recommend consulting with a qualified genetics professional before and after undergoing genetic testing to make sure that the proper tests are ordered and that results are interpreted and explained correctly. To learn more see our "Should I Get Genetic Testing?" or consider signing up for our Peer Navigator Program to get one-to-one support as you make your decsions around genetic testing.

Updated 01/07/2018

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