What are the genetics underlying 12 different cancer types?

Expert Guidelines

The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:     

• You have a blood relative who has tested positive for an inherited mutation 
• You have any of the following:  
  • Breast cancer at age 50 or younger  
  • Male breast cancer at any age
  • Ovarian cancer at any age  
  • Triple-negative breast cancer at any age 
  • Two separate breast cancer diagnoses
  • Eastern European Jewish ancestry and breast cancer at any age 
  • Metastatic breast cancer 
  • Testing of your tumor shows a mutation in a gene that is associated with hereditary cancer
  • HER2-negative breast cancer and high risk for recurrence
  • Lobular breast cancer and a family history of diffuse gastric cancer

OR 

• You have one or more close family members who have had:  
  • Young-onset or rare cancers 
  • Breast cancer at age 50 or younger
  • Triple-negative breast cancer
  • Male breast cancer, ovarian cancer, pancreatic cancer, or metastatic prostate cancer at any age
  • Two separate cancer diagnoses 
  • Prostate cancer at age 55 or younger or metastatic prostate cancer 

The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend all women diagnosed with breast cancer have access to genetic testing for inherited mutations in breast cancer genes. 

If you are uncertain whether you meet the guidelines above and you are interested in or considering genetic testing, you should speak with a cancer genetics expert. 

 

The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. The NCCN recommends genetic counseling and testing for anyone diagnosed at any age with epithelial ovarian, fallopian tube or primary peritoneal cancer.

The National Comprehensive Cancer Network has guidelines regarding which prostate cancer patients should undergo genetic counseling and testing. Men with the following factors should speak with a genetics expert about genetic testing:

• A tumor test result that suggests an inherited mutation (for example, a BRCA1, BRCA2 or ATM mutation in the tumor that may indicate an inherited mutation in one of those genes). 
• A blood relative who tested positive for an inherited mutation in a gene linked to prostate cancer.
• Metastatic prostate cancer diagnosed at any age.
• Intraductal/cribriform cells found by pathology.
• Cancer that is categorized as very high or high risk based on pathology.
• A diagnosis of male breast cancer.
• Eastern European (Ashkenazi) Jewish ancestry. 
• One or more first-, second- or third-degree relatives with breast cancer diagnosed at age 50 or younger, or ovarian, pancreatic, male breast cancer, metastatic prostate cancer or intraductal/cribriform prostate cancer at any age.
• Two or more close relatives diagnosed with breast or prostate cancer at any age.

Genetic counseling and testing for people diagnosed with colorectal or endometrial cancer

The National Comprehensive Cancer Network has guidelines on which people diagnosed with colorectal or endometrial cancer should undergo genetic counseling and testing. People diagnosed with colorectal cancer who have any of the following should speak with a genetics expert about genetic testing:

• A tumor test result suggesting an inherited mutation (for example, an MSI-H or dMMR tumor). 
• A blood relative who tested positive for an inherited mutation linked to cancer.
• Colorectal or endometrial cancer diagnosed before age 50.
• Diagnosed with more than one cancer.
• A family history of one or more first or second degree relatives with any of the following types of cancer diagnosed before age 50 or two or more first or second degree relatives with any of the following cancers diagnosed at any age:
  • colorectal
  • endometrial
  • ovarian
  • gastric
  • small bowel
  • biliary tract
  • pancreatic
  • urothelial
  • brain (usually glioblastoma)

Questions To Ask Your Health Care Provider

• I carry a mutation in (BRIP1, PALB2, ATM, RAD51C, RAD51D, or RAD50) What does this mean for me and my family?
• I have an extensive family history of breast cancer, but my family does not carry a BRCA mutation. Should I consider genetic testing that looks for mutations in other genes?
• I had breast cancer before age 50 but tested negative for a mutation in BRCA. Should I consider genetic testing that looks for mutations in other genes?

Open Clinical Trials

Below are clinical trials that include genetic counseling and testing.

• NCT02665195: Prospective Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes. 
• NCT04245176: Genetic Testing for All Breast Cancer Patients (GET FACTS). This study looks at the impact of a novel genetic counseling method on surgical decisions in people with newly diagnosed breast cancer. This study involves genetic counseling about contralateral breast cancer risk. 
• NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.  
• Enhancing Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer. This study will test how well educational materials increase the use of knowledge about hereditary cancer risk.
• NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of HBOC.

Other genetic counseling or testing studies may be found here.