BRACAnalysis^® Case B

The patient is a 55-year old woman who was recently diagnosed with papillary serous ovarian cancer. She has no family history of ovarian cancer or breast cancer. This patient pursued Comprehensive BRACAnalysis^® due to data suggesting that over 10% of women with non-mucinous ovarian cancer have a BRCA1 or BRCA2 mutation. The Myriad Mutation Prevalence Table estimated a 9.0% 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 ovarian cancer, and her medical management must be based on her clinical history.

• 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:

• Since this patient does not have a detectable BRCA1 or BRCA2 mutation, her breast cancer risk is not significantly increased, unless she has other breast cancer risk factors. The patient should proceed with regular breast cancer screening, if appropriate given her medical condition, and as recommended by her healthcare providers.

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, close relatives are still at increased risk of ovarian cancer due to the patient's diagnosis of ovarian cancer. Epidemiologic studies suggests that having one first-degree relative with ovarian cancer increases a woman's risk by about 3-fold, to about 5%.

• Evaluation by a gynecologist or gynecologic oncologist is appropriate to discuss ovarian cancer screening based on family history and other cancer risk factors that might be present for each individual relative. Screening for ovarian cancer using transvaginal ultrasound and the CA-125 blood test is usually recommended only for women with a positive genetic test or two or more relatives with ovarian cancer. Screening for ovarian cancer with these modalities has not been proven to reduce morbidity and mortality, thus the search for effective screening remains an active area of research.

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

References

1. Bergfeldt K, Nilsson B, Einhorn S, Hall P. Breast cancer risk in women with a primary ovarian cancer--a case-control study. Eur J Cancer. 2001 Nov;37(17):2229-34.
2. Kerlikowske K, Brown JS, Grady DG. Should women with familial ovarian cancer undergo prophylactic oophorectomy? Obstet Gynecol. 1992 Oct;80(4):700-7.
3. Ovarian Cancer: Screening, Treatment, and Followup. NIH Consens Statement Online 1994 April 5-7; [accessed Nov 1, 2005 ] 12(3):1-30.
4. 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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