BRACAnalysis^® Case A

The patient is a 42-year old woman who was recently diagnosed with breast cancer. Her family history of cancer consists of her maternal grandmother, who was diagnosed with breast cancer at age 75. This patient pursued Comprehensive BRACAnalysis^® due to her diagnosis of early-onset breast cancer. The Myriad Mutation Prevalence Table estimated a 6.9% chance for this patient to test positive for a BRCA1 or BRCA2 mutation. However, no mutation was detected with Comprehensive BRACAnalysis^®.

Genetic Evaluation

• Based on the no mutation detected result in BRCA1 and BRCA2 , the likelihood that this patient has hereditary breast and ovarian cancer has been significantly reduced. The negative result leaves us without an explanation for the patient's diagnosis of breast cancer, and her medical management must be based on her clinical history and family history. This is familial breast cancer.

• The patient does not have a strong family history of breast or ovarian cancer, which leads to a low suspicion of an undetectable BRCA1 or BRCA2 mutation.

Medical Management

For patient:

• Given her personal history of breast cancer, the patient will continue to have an increased risk of a new primary breast cancer, as compared to other women her age. However, her risk of a second primary cancer (generally about 1% per year) is not in the significantly increased category associated with BRCA mutations (3-4% per year).

• Since this patient does not have a detectable BRCA1 or BRCA2 mutation, her ovarian cancer risk is not in the hereditary risk category. She may have increased ovarian cancer risk based on other factors. If there are reasons to consider prophylactic oophorectomy as part of her breast cancer treatment, her oncologist should guide these discussions.

With regard to at-risk relatives:

• Since no mutation was detected in BRCA1 or BRCA2 , her relatives are not at hereditary risk of breast and ovarian cancer. However, her relatives are still at increased risk of breast cancer due to the patient's diagnosis of early-onset breast cancer. Epidemiologic studies suggest that having one first-degree relative with pre-menopausal breast cancer increases a woman's risk 2 to 3 fold.

• The patient's relatives should talk with their healthcare providers about the family history of breast cancer and recommendations for screening and prevention. Expert opinion is that a woman should start having mammograms 5 to10 years before the earliest age of breast cancer diagnosis in the family, which would be age 32 to 37 in this family.

• Genetic testing would not be recommended for this patient's relatives, since no mutation was detected in her.

References

1. Metcalfe K, Lynch HT, Ghadirian P, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2004 Jun 15;22(12):2328-35.
2. Pharoah PD, Day NE, Duffy S, Easton DF, Ponder BA. Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer. 1997 May 29;71(5):800-9.
3. Schwartz MD. Contralateral prophylactic mastectomy: efficacy, satisfaction, and regret. J Clin Oncol. 2005 Nov 1;23(31):7777-9.
4. Smith RA, Saslow D, Sawyer KA, et al. American Cancer Society guidelines for breast cancer screening: update 2003. CA Cancer J Clin 2003; 53: 141–169.

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