About Genetic Testing for The Hereditary Cancer Test
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Welcome to Color. In this video, you’ll learn useful information about genetic testing.

Understanding your genetic risks

Color’s Hereditary Cancer Test:
Learning if you have an increased genetic risk for cancer can make a difference.

  • Cancer is complex and has many causes. 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, 3, 4 Color’s Hereditary Cancer Test is designed to detect mutations in a comprehensive set of genes associated with an increased risk for common hereditary cancers like breast, colorectal, melanoma, ovarian, pancreatic, prostate, stomach, and uterine cancers.
  • Understanding if you have a genetic predisposition to certain cancers allows you and your healthcare provider to create a screening and prevention plan tailored to you. This is important because detecting cancer at its earliest stage improves the likelihood of a favorable outcome.
  • While genetic mutations can increase risks for certain cancers, this does not mean cancer will definitely develop. 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.5,6 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.7,8 The level of increased cancer risk differs from gene to gene.
  • Even if your results show no mutations, you may still get cancer. While inherited mutations explain some cases of cancer, the majority are sporadic and can’t be explained by a single cause. Some non-genetic factors that can influence cancer risk include environment and lifestyle, as well as family history without a known genetic link.
Understanding results

You should be prepared to receive positive or negative results.

  • Most people receive a negative result, meaning no mutations associated with the disorders covered in your Color Test were found in the genes analyzed. While this can be reassuring, it does not mean that you are risk-free. Because genetics is just one piece of the puzzle, it is important to follow the healthcare plan recommended by your provider.
  • A small percentage of people receive a positive result, meaning a mutation associated with the disorders covered by your Color Test was identified. It is important that you share your results with your provider to create a personalized healthcare plan.
  • It’s normal to have variants of uncertain significance. It is common to see changes in genes that require further research to determine if they are associated with an increased risk for developing a disorder. Most are eventually found to be harmless.9 When we have more information we will let you know. In this situation, you and your provider should rely on your personal and family history to formulate your healthcare plan.
  • Mutations that impact risk for disorders covered by your Color Test can also increase the risk of developing other disorders. For example, if you are trying to learn about your risk of breast cancer, you may also learn about your risk for thyroid cancer. If research shows your risks for these disorders are increased due to a mutation, we will let you know.
  • No genetic test detects everything. It is possible that some types of genetic changes, which increase the chance of a disease or disorder, will not be detected by genetic testing. Color’s scientists stay abreast of the most recent developments in genetics, and we will keep you updated as the field evolves.
Sharing results

Acting on your results.

  • Regardless of the type of results you receive, we recommend that you share them with your healthcare provider. This can help you and your provider create a personalized healthcare plan.
  • Your results could be useful to your relatives, regarding their own chances of developing a disorder. We encourage you to share your results, as testing may be useful for them as well. Keep in mind though that your results are unique to you. Even if you don’t have a mutation, your relatives may.
  • A consultation with one of our board-certified genetic counselors is included at no extra charge if you have questions about your results. You can also visit color.com if you have questions about anything else.
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. 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.
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. 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.
6. Moyer VA on behalf of the U.S. Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2014 Feb 18;160(4):271-81.
7. Bonadona V, Bonaiti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. June 2011;305(22):2304-10.
8. Dowty JG, Win AK, Buchanan DD, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat. March 2013;34(3):490-7.
9. 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):405-24.