BRACAnalysis^® Case D

The patient is a 55-year old woman who was recently diagnosed with breast cancer. Her family history of cancer consists of her mother, who was diagnosed with ovarian cancer at age 65. This patient pursued Comprehensive BRACAnalysis^® due to the combination of breast and ovarian cancer in herself and her mother. The Myriad Mutation Prevalence Table estimated a 5.8% 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 reduced. The negative result leaves us without an explanation for the family history of breast cancer and ovarian cancer.

• It is possible that this patient carries an undetectable BRCA1 or BRCA2 mutation. However, a more likely explanation is familial cancer, due to a combination of genetic, environmental, and lifestyle factors. Her medical management must be based on her clinical history.

Medical Management

For patient:

• Given her personal history of breast cancer, the patient will continue to have an increased risk of 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).

• Epidemiologic studies suggests that having one first-degree relative with ovarian cancer increases a woman's risk by about 3-fold, to about 5%. This patient has an increased risk of ovarian cancer, although not to the degree associated with BRCA1 and BRCA2 mutations. Evaluation may be appropriate to discuss ovarian cancer risk management, based on family history and other ovarian cancer risk factors that might be present.

For 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, close relatives are still at increased risk for breast cancer and ovarian cancer due to the family history.

• The patient's relatives should talk with their healthcare providers about the family history of breast cancer and ovarian cancer and recommendations for screening and prevention.

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

References

1. Kerlikowske K, Brown JS, Grady DG. Should women with familial ovarian cancer undergo prophylactic oophorectomy? Obstet Gynecol. 1992 Oct;80(4):700-7.
2. 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.
3. 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.
4. Schwartz MD. Contralateral prophylactic mastectomy: efficacy, satisfaction, and regret. J Clin Oncol. 2005 Nov 1;23(31):7777-9.
5. Stratton JF, Pharoah P, Smith SK , Easton D, Ponder BA. A systematic review and meta-analysis of family history and risk of ovarian cancer. Br J Obstet Gynaecol. 1998 May;105(5):493-9.

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