Study: What are the genetics underlying 12 different cancer types?
Summary
As gene sequencing has become more affordable, researchers and health care providers are now looking for mutations in many genes beyond BRCA1, BRCA2 and others that are associated with known hereditary cancer syndromes. By sequencing thousands of genes rather than just one or two, researchers can better understand which inherited mutations affect cancer risk. In this study, researchers sequenced thousands of genes in patients with one of 12 cancers, including breast, and catalogued which gene mutations are most commonly found in each cancer. (03/01/16)
Relevance
This article is most relevant for People diagnosed with cancer
Relevance: Medium
Strength of Science: Medium-High
Research Timeline: Post Approval
Media Ratings
Who covered this study?
New York Post
Scientists say cancer susceptibility is genetic
This article rates 3.5 out of 5 stars
Daily Mail UK
Revealed... 12 cancers that ARE inherited - and how the 'Angelina Jolie gene' could also trigger stomach and prostate tumors
This article rates 3.5 out of 5 stars
Contents
| At a glance | In-depth |
| Findings | Limitations |
| Questions for your doctor | Resources |
STUDY AT A GLANCE
This study is about:
Inherited gene mutations found in some patients with one of 12 different cancers.
Why is this study important?
Researchers believe that at least 3% of all cancer cases have a strong hereditary component. One example is mutations, which greatly increase the risk of breast cancer. Other gene mutations also increase cancer risk, but not to the same extent as BRCA. Understanding how often gene mutations that confer moderately higher cancer risk occur in patients is a priority, as these mutations can still be passed to sons and daughters, and may affect patients’ treatment decisions. According to the study authors, “Such discovery of new cancer susceptibility genes…will be an important step towards generating an actionable catalogue for personalized treatment of cancer.”
Study findings:
- The most commonly mutated genes that increase cancer risk are: , , , , and .
- The percentage of patients with gene mutations that increase cancer risk varies among cancers. For example, 19% of ovarian cancer patients in this study had an that increases cancer risk, compared to only 4% of acute myeloid leukemia patients.
What does this mean for me?
This study identifies and catalogues gene mutations that increase a person’s susceptibility to cancer. Ultimately, the goal is to understand which mutations are clinically relevant and how they increase cancer susceptibility, so that health care providers can determine their patients’ cancer risks and treatment plans. However, we have no national guidelines on how to care for patients with some of the newly discovered mutations, or for patients with mutations that have been studied less extensively than BRCA mutations or the mutated genes that cause . This study is an important step in helping researchers get a complete understanding of the role that inherited mutations play in different cancers. But more work needs to be done to fully assess the clinical relevance of these findings. Patients with mutations in genes that do not have national guidelines outlining risk management options should work with their health care providers to determine appropriate treatments and screenings for themselves and their families.
Posted 3/1/16
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References
Lu C, Xie M, Wendl MC, et al. “Patterns and functional implications of rare variants across 12 cancer types.” Nature Communications. Published online first on December 22, 2015.
Disclosure
FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.
This article is relevant for:
People diagnosed with cancer
This article is also relevant for:
previvors
people with a genetic mutation linked to cancer risk
people with a family history of cancer
people newly diagnosed with cancer
Be part of XRAY:
Expert Guidelines
National Comprehensive Cancer Network guidelines regarding who should undergo genetic counseling and testing recommend speaking with a genetics expert about genetic testing if you have been diagnosed with breast cancer and 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.
- at any age.
- Two separate breast cancer diagnoses.
- Eastern European Jewish ancestry and breast cancer at any age.
- Lobular breast cancer and a family history of diffuse gastric cancer.
- breast cancer and are at high-risk for recurrence.
- Tumor testing shows a mutation in a gene that is associated with .
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 prostate cancer at any age.
- Two separate cancer diagnoses.
- Metastatic prostate cancer or prostate cancer that is high-risk or very-high-risk.
The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 recommending that 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.
Updated: 07/28/2023
Expert Guidelines
National Comprehensive Cancer Network (NCCN) guidelines recommend genetic counseling and testing for anyone diagnosed at any age with epithelial ovarian, or primary peritoneal cancer.
Updated: 11/13/2023
Expert Guidelines
The National Comprehensive Cancer Network guidelines recommend genetic counseling and testing for the following people with prostate cancer who have:
- a tumor test result that suggests an inherited mutation
- for example, a tumor with a BRCA1, BRCA2 or ATM mutation 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
- prostate cancer that has spread to the
- localized prostate cancer (hasn’t spread beyond the prostate) that is considered very high-risk or high-risk
- intermediate-risk prostate cancer with intraductal or cribriform features listed on the
- a diagnosis of male breast cancer
- Eastern European (Ashkenazi) Jewish ancestry
- one or more relatives with:
- breast, colorectal or endometrial cancer diagnosed at age 50 or younger
- male breast cancer, triple negative breast cancer, ovarian cancer or pancreatic cancer at any age
- metastatic, regional, very-high-risk, or high-risk prostate cancer at any age
- one or more close relatives with prostate cancer diagnosed at age 60 or younger
- three or more relatives on the same side of the family with biliary tract, breast, colorectal, endometrial, glioblastoma, prostate or other cancers
Speak with a genetic counselor if you have questions about whether you meet guidelines for genetic testing.
Updated: 02/01/2024
Expert Guidelines
National Comprehensive Cancer Network (NCCN) guidelines for genetic counseling and testing recommend speaking with a genetics expert about genetic testing for people diagnosed with colorectal or endometrial cancer who have any of the following:
- A tumor test result that suggests an inherited mutation (for example, an MSI-H or tumor).
- A blood relative who tested positive for an inherited mutation linked to cancer.
- Colorectal or endometrial cancer diagnosed before age 50.
- Diagnoses of 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)
- Colorectal cancer and a personal history of polyps:
- 10 or more adenomatous
- 2 or more hamartomatous polyps
- 5 or more serrated polyps close to the rectum
Updated: 11/12/2023
Questions To Ask Your Doctor
- I carry a mutation in (BRIP1, PALB2, ATM, RAD51C, RAD51D, or ) 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
The following clinical trials include genetic counseling and testing.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women ages 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT05562778: Chatbot to maximize hereditary cancer genetic risk assessment. Researchers are testing whether a mobile health platform, known as a "chatbot" can improve rates of genetic testing among Medicaid patients with an elevated risk having an inherited mutation.
- NCT05427240: eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eReach2). This study will look at the effectiveness of offering web-based options for pre/post-test genetic counseling to provide equal or improved timely uptake of genetic services and testing.
- NCT05694559: Connecting Black Families in Houston, Texas to Hereditary Cancer Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
Updated: 02/29/2024
Peer Support
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
Updated: 08/06/2022
Find Experts
The following resources can help you locate a genetics expert near you or via telehealth.
Finding genetics experts
- The National Society of Genetic Counselors website has a search tool for finding a genetic counselor by specialty and location or via telehealth.
- InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference.
- Gene-Screen is a third-party genetic counseling group that can help educate, support and order testing for patients and their families.
- JScreen is a national program from Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
- Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone.
- The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors.
Related experts
Genetics clinics
- The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.
Other ways to find experts
- Register for the FORCE Message Boards and post on the Find a Specialist board to connect with other people who share your situation.
- The National Cancer Institute (NCI)-designated comprehensive cancer centers have genetic counselors who specialize in cancer.
- FORCE's toll-free helpline (866-288-RISK, ext. 704) will connect you with a volunteer board-certified genetic counselor who can help you find a genetics expert near you.
Updated: 07/21/2023
Related Resources
The following organizations have resources related to genetic counseling and testing:
- FORCE related resources:
- Book: Living with Hereditary Cancer Risk
- Information: What is genetic testing?
- Information: How to get genetic testing
- Information: Hereditary cancer, genes and risk
- Video: ABC of Cancer Genetics
- Blogs: Genetic testing
- National Society of Genetic Counseling
- JScreen
Updated: 11/13/2023
Who covered this study?
New York Post
Scientists say cancer susceptibility is genetic
This article rates 3.5 out of 5 stars
Daily Mail UK
Revealed... 12 cancers that ARE inherited - and how the 'Angelina Jolie gene' could also trigger stomach and prostate tumors
This article rates 3.5 out of 5 stars
Oncotherapy Network
Investigators identify patterns of rare germline variants in 12 cancer types
This article rates 3.5 out of 5 stars
Medical News Today
Study reveals how hereditary gene mutations affect risk of certain cancers
This article rates 3.5 out of 5 stars