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BRACAnalysis® Case E

The patient is a 39-year old woman who was recently diagnosed with breast cancer. Her family history of cancer consists of a paternal aunt, who was diagnosed with breast cancer at age 43 and ovarian cancer at age 55, and her paternal grandmother, who was diagnosed with breast cancer at age 49. This patient pursued Comprehensive BRACAnalysis® due to her strong family history of breast and ovarian cancer. The Myriad Mutation Prevalence Table estimated a 40.7% chance for this patient to test positive for a BRCA1 or BRCA2 mutation. However, no mutation was detected with Comprehensive BRACAnalysis®.

Genetic Evaluation

  • This patient's family history is highly suggestive of hereditary breast and ovarian cancer. The no mutation detected result in BRCA1 and BRCA2 does not rule out hereditary risk in this family.

  • Although the majority of mutations in BRCA1 and BRCA2 are detected by Comprehensive BRACAnalysis®, some less common mutations in these genes are not.

  • It might be appropriate for the patient's aunt with breast and ovarian cancer to pursue Comprehensive BRACAnalysis®, to determine whether or not the patient might have cancer by chance, rather than due to the inherited risk in this family with HBOC.

  • Further evaluation by a genetics specialist might be appropriate.

  • Despite the no mutation detected results, this family must be managed as a hereditary breast and ovarian cancer family, due to the strong family history of breast and ovarian cancer.

Medical Management

For patient:

  • Medical management should be the same as an individual who has a mutation in BRCA1 or BRCA2, since this patient's history is clinically diagnostic for HBOC. Click here for the appropriate medical management for this patient. The patient's risk of developing a second primary breast cancer or ovarian cancer is significantly increased.

With regard to at risk relatives:

  • Click here for the appropriate medical management for at-risk relatives. All at-risk relatives in this family should be treated as if they may have hereditary risk of breast and ovarian cancer.

  • Unfortunately, genetic testing would not be useful for unaffected relatives, since no mutation was detected in the patient with cancer.

  • The patient should be encouraged to stay in contact with her healthcare provider for updates regarding enhancements to the current technology used to analyze the BRCA1 and BRCA2 genes.

Additional Steps

  • Participation in research studies looking for additional gene mutations may be an option for families with hereditary breast and ovarian cancer in whom no mutation is found through Comprehensive BRACAnalysis®.

  • Patients also have the option to bank a sample of DNA for use in the future, should additional genetic tests become available that may explain the family history, and the patient is no longer living. Genetic testing is always most useful when first performed on an affected member of the family.

  • If you would like more information about possible research studies for a patient or DNA banking, please call your Regional Medical Specialist or 1-800-469-7423 to speak with a Medical Services Representative.

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