Learn about hereditary cancer

Knowledge of an increased genetic risk enables you to work with your healthcare provider to create a personalized plan designed to prevent or detect cancer at an earlier and more treatable stage.

10-15% of most cancers are due to inherited genetic mutations.1, 2, 4, 13

Hereditary cancer is caused by an inherited genetic mutation. It is typical to see a recurring pattern of cancer across two to three generations—like multiple individuals diagnosed with the same type of cancer(s) and individuals diagnosed with cancer much younger than average.

Familial cancer refers to cancer that appears to occur more frequently in families than is expected from chance alone. While no specific mutation has been linked to these cancers, familial cancer may have a hereditary component that has not yet been identified.

Sporadic cancer refers to cancer that occurs due to spontaneous mutations that accumulate over a person’s life. Sporadic cancer cannot be explained by a single cause. There are several factors, such as aging, lifestyle, or environmental exposure, that may contribute to the development of sporadic cancer.

A mutation can greatly increase your risk for developing cancer.

Mutations in the genes covered by Color’s Hereditary Cancer Test are not common, but when present they significantly increase the chances of cancer.

For example, a BRCA1 mutation can increase a woman’s chance of breast cancer up to 81% by age 80.5 An APC mutation can increase a man or woman’s chances of colorectal cancer up to 70-100% by age 80 without surgical intervention.6, 7

Your provider may adjust your screening plan if you have a mutation.

Knowing that you have a mutation that increases your risk of developing cancer allows you and your healthcare provider to create a personalized screening plan, which increases the chance of early detection.

Detecting cancer early improves the odds of survival.

The 5-year survival rates for the cancers covered by Color’s Hereditary Cancer Test increase dramatically when they are caught at an earlier and more treatable stage.8

Knowing your risk can help you take action

You can work with your healthcare provider to create a personalized screening and prevention plan, designed to help reduce your risk of developing cancer. This might include:

 

Earlier and more frequent screenings

For example, if you have an increased risk for breast cancer, your healthcare provider might recommend mammograms at an earlier age.

 

Preventive measures

Your healthcare provider may suggest preventive measures, such as certain medications that can reduce your cancer risk.

 

Proactive care for your family

As hereditary health disorders run in families, your results can help your loved ones understand their hereditary cancer risk.

How mutations impact women

A mutation can greatly increase a woman’s risk for developing hereditary cancer.

For example, a BRCA1 mutation can increase the chances of breast cancer up to 81% and ovarian cancer up to 54% by age 80.5

Mutations in the BRCA1 and BRCA2 genes are rare—found in approximately 1 in 300 individuals in the general population and in 2% of Ashkenazi Jewish individuals9 —but they significantly increase the chances of cancer. Mutations in other genes are more common, but have less of an effect on the risk of developing hereditary cancer.

How mutations impact men

A mutation can greatly increase a man’s risk for developing hereditary cancer.

For example, an APC mutation can increase the chances of colorectal cancer up to 70-100% by age 80 if untreated.6, 7

Mutations in the APC gene are rare—accounting for less than 1% of all colorectal cancers—but they significantly increase the chances of cancer. Mutations in other genes are more common, but have less of an effect on the risk of developing hereditary cancer.

A test you can count on. Based in evidence.

Unlike recreational genetic tests, we focus on thorough sequencing of genes to give you meaningful insights. We provide an affordable clinical-grade test that historically has cost thousands of dollars.

 

Thorough gene analysis

Just looking at snippets with recreational tests means you miss information – we take a more complete look.

 

Genes recognized by the CDC

We include all 10 genes recognized by the CDC as important for public health.10

 

Results to act on

Clinical results you may use with your doctor to guide your approach to health and prevention.**

Learn more about our genes

Learn more about the benefits and limitations of genetic testing

This means no mutations associated with hereditary cancer were identified. It’s important to share your results with your provider to create a personalized healthcare plan.

This means a mutation associated with hereditary cancer was identified. It’s important to share your results with your provider to create a personalized healthcare plan.

It is common to see a genetic change that requires further research to determine if it is associated with an increased risk for developing a hereditary cancer. To date, most of the variants of uncertain significance that are further classified have been found to be harmless, though this process can sometimes take years.11

Most cancers are “sporadic,” or seemingly due to random chance and without an identifiable cause. But about 10-15% of certain cancers are due to harmful genetic changes, called mutations, that are passed down through families.1 ,2 ,13 ,4

Knowing that you have a mutation that increases your risk of developing cancer allows you and your healthcare provider to create a personalized screening plan, which increases the chance of early detection. This is important because detecting cancer at its earliest stage improves the likelihood of a favorable outcome.8

A positive result, or finding a mutation, is not a cancer diagnosis, and does not mean that you will develop cancer. For example, most women have a 10% chance of getting breast cancer by the time they are 80, while a woman with a mutation in the BRCA1 gene can have up to an 81% chance.14 , Most men have a 2% chance of getting colorectal cancer by the time they are 70, while a man with a mutation in the MLH1 gene can have up to a 41% chance.15 ,16 The level of increased cancer risk differs from gene to gene.

Useful resources

FORCE

Provides support, education, research, and resources for survivors and people at increased risk of cancer due to an inherited mutation or family history of cancer.

Visit facingourrisk.org

National Cancer Institute

Focuses on cutting-edge research on cancer causes, treatment, and prevention, as well as informing and educating the American public and the world about cancer.

Visit cancer.gov

American Cancer Society

Focuses on funding and conducting research, sharing expert information, supporting patients, and spreading the word about cancer prevention.

Visit cancer.org

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REFERENCES
1. Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. January 2015;121(1):25-33. Pubmed Abstract.
2. Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. December 2005;104(12):2807-16. Pubmed Abstract.
3. Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7.
4. Claus EB, Risch N, Thompson WD, et al. The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res Treat. November 1993;28(2):115-20. Pubmed Abstract.
5. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643-6.Pubmed Abstract.
6. Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastro. 2010 Jun;138(6):2044-58.
7. Burt RW, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastro. 2004 Aug;127(2):444-51.
8. SEER Stat Fact Sheets: Breast Cancer. Published November 2013. National Cancer Institute.
9. Moyer VA on behalf of the US Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: US Preventive Services Task Force recommendation statement. Ann Intern Med. February 2014;160(4):271-81. Pubmed Abstract.
10. Genomics and Population Health Action Collaborative. The National Academies of Sciences. Published November 18, 2015. Available at www.nationalacademies.org.
11. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-23.
12. De brakeleer S, De grève J, Loris R, et al. Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. Hum Mutat. 2010;31(3):E1175-85.
13. Risch HA, McLaughlin JR, Cole DE, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. March 2001;68(3):700-10. Pubmed Abstract.
14. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Hum Genet. May 2003;72(5):1117-30. Pubmed Abstract.
15. Bonadona V, Bonaïti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA.2011;305(22):2304-2310.
16. Dowty JG, Win AK, Buchanan DD, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat. March 2013;34(3):490-7.