For newly diagnosed breast cancer patients, BRCA1/2 genetic counseling (GC) and/or testing has the greatest potential to affect treatment choices if it occurs prior to definitive surgery. This qualitative study sought to examine recently diagnosed breast cancer patients' experiences with pretest GC (n = 9). Study results show the primary reason most women attended GC was due to a family history of cancer. Most women expressed high levels of satisfaction with timing of GC regardless of whether they were referred prior to or after definitive surgical treatment. In this study, newly diagnosed breast cancer patients, particularly those who have already completed definitive surgery, may not be fully informed about the purpose and implications of BRCA1/2 GC and/or testing for treatment decisions had they been referred prior to definitive surgery for their breast cancer diagnosis. Thus, many women felt the information provided during GC had little utility with respect to their current breast cancer diagnosis.

Purpose This study examined changes in cancer-related knowledge, distress, and decisional conflict from pretest- to post-genetic counseling (GC) in before definitive surgery (BDS) and after definitive surgery (ADS) breast cancer (BC) patients. Methods Sociodemographic and clinical characteristics were collected at baseline; primary outcome data were collected before (T1) and after (T2) pretest GC. Within group changes for cancer-related knowledge, distress, and decisional conflict over GT were compared using Wilcoxon signed-rank tests. Results Of 103 BC patients, 87 were ADS and 16 were BDS patients. Analyses revealed that both groups reported significant increases in knowledge between T1 and T2 (median change = 4.2, p = .004, and 2.7, p < .001, for BDS and ADS patients, respectively). Overall cancer-related distress showed a downward trend between T1 and T2 for both groups and was significant for BDS patients (p = .041). Reports of BDS patients trended toward overall and subscale-specific increases in decisional conflict, with the exception of the uncertainty which trended downward, but did not reach significance. Overall decisional conflict decreased in ADS patients, approaching marginal significance (p = .056), with significant improvements in informed decision making (median change = -12.6, p < .001; i.e., pretest GC yielded improved knowledge of benefits, risks, and side effects of available options). Conclusions These pilot data suggest that pretest GC increases cancer-related knowledge for both BDS and ADS patients, decreases distress in BDS, and improves informed decision making in ADS patients. Future studies with larger sample sizes are needed to replicate these results.

Patient recall of a surgeon referral letter does not seem to increase the number of high-risk women who attend GC after a breast cancer diagnosis. The letter approach in its current format does not seem to be a wholly effective means of communicating with some patients who may be overwhelmed by their cancer diagnosis or unaware that GC and testing may have implications for their current treatment decisions, possibly resulting in a missed opportunity to engage in informed decision making.

The incomplete penetrance of mutations in BRCA1 and BRCA2 suggests that some combination of environmental and genetic factors modifies the risk of breast cancer in mutation carriers. The current study sought to identify possible interactions between established breast cancer risk factors and BRCA1 or BRCA2 mutations using a case-only study design. Breast cancer cases that had been tested for BRCA1 and BRCA2 mutations were identified from 11 collaborating centers. Comparisons of reproductive and lifestyle risk factors were made between women with breast cancer who were positive for BRCA1 mutations (n=283), BRCA2 mutations (n=204) or negative for both BRCA1 and BRCA2 mutations (n=894). Interaction risk ratios (IRRs) were calculated using multinominal logistic regression models. Compared with non-carriers, statistically significant IRRs were observed for later age at menarche among BRCA2 mutation carriers, for a greater number of pregnancies among both BRCA1 and BRCA2 mutation carriers, and for alcohol use among BRCA1 mutation carriers. Our data suggest that the risk for breast cancer among BRCA1 or BRCA2 carriers may be modified by reproductive characteristics and alcohol use. However, our results should be interpreted cautiously given the overall inconsistency in the epidemiologic literature on modifiers of BRCA1 and BRCA2.

To evaluate satisfaction with (a) the timing and strength of provider recommendation for and (b) information received prior to and during genetic counseling (GC) among breast cancer patients who attended GC before definitive surgery (BDS) or after definitive surgery (ADS). Satisfaction with provider recommendation for and information received about GC was evaluated among breast cancer patients who attended GC as part of their clinical care (n = 51). There were no significant differences among breast cancer patients who attended GC BDS or ADS in satisfaction with when the physician referred them for GC, the strength of recommendation for GC, the amount of information provided about the GC, and the information received in GC. From a clinical perspective, the optimal time for attending GC may be BDS. Nevertheless, breast cancer patients appear satisfied with physician recommendation of and information related to GC, regardless of when they attend.