Abstract B9: Long-Term Outcomes of Affected Women who Received Uninformative BRCA1/2 Results
Authors: Vegella Patti , Graves Kristi , Kelly Scott , Zawistowski Grace , Porter Allison , DeMarco Tiffani , Schwartz Marc 
Published: May 2012

Abstract
B9
Little is known about long-term behavioral and psychological outcomes following receipt of an uninformative BRCA1/2 genetic test result. The purpose of this study was to examine the behavioral, medical, and psychosocial outcomes. Specifically, we evaluated long-term bilateral prophylactic salpingo-oophorectomy (BPO) rates, current quality of life (QOL) outcomes, and predictors of distress for women affected with breast cancer who received an uninformative result.

Method
Participants were women with a 10% or greater likelihood of carrying a BRCA mutation who had received genetic counseling and genetic test results 4-8 years prior. All women in the present sample (N = 230) received uninformative BRCA1/2 test results and were affected with breast cancer. Women completed assessments measuring demographics, global distress (BSI), cancer-specific distress (IES), risk perceptions, surgery and surveillance behaviors, and quality of life (MOS SF-12, FACT) before and 4-8 years (M=5.8 yrs) after genetic testing.

Analyses/Results
In terms of surveillance for breast cancer, most women had a mammogram (84%) and a clinical breast exam (94%) within the past year. When evaluating BPO surgery outcomes, we eliminated women who had been diagnosed with ovarian cancer (n = 13). Of the women with uninformative results and no prior history of ovarian cancer, 12% (n=26) reported BPO prior to receipt of test results, 10.1% (n=22) reported BPO after receipt of test results, and 77.9% (n=169) reported never having BPO. BPO was obtained an average of 2.75 years after receipt of test results (range 0.1 to 5.0 yrs). The BPO groups (never, prior to testing, after testing) did not differ on long-term QOL outcomes (p&lt;.41); however, the groups significantly differed on global distress (F=4.96, p&lt;.01), with women who had BPO after testing reporting more distress than women who had BPO before testing. Regardless of BPO status, greater long term cancer-specific distress among uninformatives was predicted by greater levels of baseline cancer-specific distress prior to receipt of test result (β=.30, p&lt;.001), higher current perceived risk of cancer (β= .23, p&lt;.01), and ovarian cancer family history, specifically a greater number of relatives affected by ovarian cancer (β= .22, p&lt;.01). A trend was found where BPO timing and status (never, prior to testing, after testing) was associated with current cancer-specific distress (β= -.15, p=.07). Specifically, having BPO after receipt of uninformative results was marginally related to higher current levels of cancer-specific distress.

Conclusions
Previous studies have found that the uninformative group is diverse in their psychosocial outcomes and this study is among the first to report long-term behavioral and psychosocial outcomes among women who receive uninformative BRCA1/2 genetic test results. Women who opt for BPO after notification of an uninformative result appear to have higher current global distress than women who never had BPO or those who had the surgery prior to receipt of test results, with a similar trend for current cancer-specific distress. Our findings suggest that women who receive uninformative test results, mainly those with a strong family history of ovarian cancer, high cancer-specific distress prior to genetic testing, and those who opt for BPO following result notification, may benefit from routine long-term follow up from genetic counselors.
Citation Information: Cancer Prev Res 2008;1(7 Suppl):B9.