GENETIC TESTING for HEREDITARY CANCER SYNDROMES Resource Guide
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Comprehensive BRACAnalysis®
POSITIVE FOR A DELETERIOUS MUTATION

A positive for a deleterious mutation test result means that a deleterious mutation was found in either the BRCA1 or BRCA2 gene indicating an increased risk for cancers associated with hereditary breast and ovarian cancer syndrome. If your patient has already been diagnosed with cancer, a positive for a deleterious mutation result indicates an increased risk for a second primary cancer. Click here to a view a list of published estimates of cancer risks for BRCA1 and BRCA2 mutation carriers.

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BRACAnalysis® Positive for a Deleterious Mutation or Suspected Deleterious

A positive for a deleterious mutation result allows you to personalize your patient's medical management and enables other family members to determine whether they also inherited the mutation and its associated cancer susceptibility.

Medical Management Recommendations

Increased Surveillance

  • Monthly self breast exams starting at age 18 to 21 and annual or semiannual clinical breast exams, beginning between ages 25 to 35.
  • Yearly mammogram and/or MRI beginning at age 25.
  • Annual or semiannual transvaginal ultrasound and testing for CA-125 to screen for ovarian cancer beginning between the ages of 25 to 35.

Chemoprevention

  • Drugs such as tamoxifen may significantly reduce the risk of breast cancer in women with BRCA mutations.
  • Oral contraceptives may reduce the risk of ovarian cancer in women with BRCA1 or BRCA2 mutations.

Prophylactic Surgery

  • Prophylactic mastectomy reduces the risk of breast cancer by at least 90 percent in women with BRCA mutations.
  • Prophylactic oophorectomy reduces the risk of ovarian cancer by up to 96 percent and simultaneously reduces the risk of breast cancer by approximately 50 percent in women with BRCA mutations.

Implications for Family Members

Once a mutation has been detected in a family, other family members can be tested for the specific family mutation. First-degree relatives are at 50% risk to carry the same mutation. Those family members testing positive for the known mutation are managed more aggressively. By contrast, individuals who did not inherit the family mutation are not at increased risk for cancer and may adhere to general population screening guidelines, as long as there is no independent history of cancer on the other side of the family.

First-degree relatives include an individual's parents, siblings, and children. Click here for a pedigree that indicates which family members are first-degree, second-degree, and third-degree relatives. Other more distant family members, such as nieces, nephews, aunts, uncles, and cousins, may also be at risk to have the same gene mutation found in your patient. In order to determine which side of the patient's family is at risk for carrying the mutation, the parents or other relatives, particularly women affected with cancer or offspring of women who died previously from breast or ovarian cancers, may have Single Site BRACAnalysis® to determine their mutation status. For some patients, it may be possible to assume which side of the family is at risk, based on the history of cancer in the family. If possible, the suspected parent's carrier status should be confirmed through genetic testing. It is important to remind patients about the importance of sharing their genetic information with at-risk family members.


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Introduction
Informed Consent Case Study
Want to know more?
Background
BRCA1 and BRCA2 Genes
Cancer Risk
Testing Guidelines
Test Results and Medical Management