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Positive: What Does My Result Mean?

Positive for a Deleterious Mutation: Overview

If your test result is either "Positive for a Deleterious Mutation" or "Suspected Deleterious":

  • You have a mutation or alteration in either the BRCA1 and BRCA2 gene
  • You have hereditary breast and ovarian cancer (HBOC) syndrome
  • HBOC syndrome increases the risk of various cancers, primarily breast and ovarian cancer
  • While the risk of developing these cancers is high, not everyone with HBOC syndrome will develop cancer


Your Cancer Risks


If You Have NOT Had Breast
or Ovarian Cancer:
Mutation Carrier General Population
Breast cancer by age 50 33%-50% 2%
Breast cancer by age 70 56%-87% 7%
Ovarian cancer by age 70 27%-44% <2%
Male breast cancer by age 70 6% .05%
If You HAVE Had Breast
or Ovarian Cancer:
Mutation Carrier General Population
Ovarian cancer 15% not available
Breast cancer after 5 years 27% 3.5%
Breast cancer by age 70 64% 11%
Other Cancer Risks:* Mutation Carrier General Population
Prostate cancer by age 80 20% 15%
Pancreatic cancer by age 80 2%-4% <1%


* Less information is available about the risks of these and other cancers than about breast and ovarian cancers.

On to "Positive: What Should I Do Now?"

"Estimates of the incidence of hereditary breast cancer range from between 5 to 10 percent to as many as 27 percent of all breast cancers."

- The National Human Genome Research Institute, National Institutes of Health

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