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 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.1

1. 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.

Most cancers are “sporadic,” or seemingly due to random chance and without an identifiable cause. About 10-15% of certain cancers are due to harmful genetic changes, called mutations, that are passed down through families. 2, 3, 4, 5

2. 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.

3. 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.

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. 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.

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.6

6. SEER Stat Fact Sheets: Breast Cancer. Published November 2013. National Cancer Institute.

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.7 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.8, 9 The level of increased cancer risk differs from gene to gene.

7. 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.

8. 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.

9. Dowty JG, Win AK, Buchanan DD, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat. March 2013;34(3):490-7.