Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

PURPOSE: Population screening of three common BRCA1/BRCA2 mutations in Ashkenazi Jews (AJ) apparently fulfills screening criteria. We compared streamlined BRCA screening via self-referral with proactive recruitment in medical settings. METHODS: Unaffected AJ, age ≥25 years without known familial mutations, were either self-referred or recruiter-enrolled. Before testing, participants received written information and self-reported family history (FH). After testing, both non-carriers with significant FH and carriers received in-person genetic counseling. Psychosocial questionnaires were self-administered 1 week and 6 months after enrollment. RESULTS: Of 1,771 participants, 58% were recruiter-enrolled and 42% were self-referred. Screening uptake was 67%. Recruited enrollees were older (mean age 54 vs. 48, P < 0.001) and had less suggestive FH (23 vs. 33%, P < 0.001). Of 32 (1.8%) carriers identified, 40% had no significant FH. Post-test counseling compliance was 100% for carriers and 89% for non-carrier women with FH. All groups expressed high satisfaction (>90%). At 6 months, carriers had significantly increased distress and anxiety, greater knowledge, and similar satisfaction; 90% of participants would recommend general AJ BRCA screening. CONCLUSION: Streamlined BRCA screening results in high uptake, very high satisfaction, and no excess psychosocial harm. Proactive recruitment captured older women less selected for FH. Further research is necessary to target younger women and assess other populations.Genet Med advance online publication 08 December 2016.

Increased mammographic screening and use of percutaneous image-guided core biopsy in non-palpable breast cancer: impact on surgical treatment.

BACKGROUND: Major efforts are being directed at the early diagnosis of breast cancer. The diagnosis rate of non-palpable tumors is steadily growing as a result of increased screening by mammography. In most patients with non-palpable lesions, percutaneous image-guided biopsies have replaced wire localization with surgical excision for obtaining tissue diagnosis. In recent years the Israel Ministry of Health initiated a mammograpy screening program. Percutaneous image-guided biopsies have also become widely available. OBJECTIVE: To assess the impact of these changes on breast cancer surgical treatment in our hospital. METHODS: The charts of 483 patients operated on in our department for primary breast carcinoma during the years 1997 to mid-2001 were reviewed. Data on the mode of diagnosis, tumor stage, resection margins, and number and types of operations were recorded and analyzed. The term non-palpable tumors relates to tumors necessitating wire localization for surgical excision. RESULTS: The percentage of patients diagnosed with non-palpable tumors rose from 16.2% in 1997 to 47.4% in 2001, with an average size of 2.6 cm for palpable and 1.7 cm for non-palpable tumors. The rate of preoperative diagnosis for non-palpable tumors rose from 6.2% in 1997 to 96.4% in 2001. The rate of involved or very close margins was reduced by 73% in the patient group diagnosed preoperatively as compared to those without a preoperative diagnosis (10.6% vs. 39.4%). Finally, the percentage of patients who had two operations fell from 56.2% in 1997 to 11.1% in 2001. CONCLUSIONS: The mammography screening program in Jerusalem in 1997-2001 was effective in increasing the relative percentage of non-palpable breast cancers with reduced tumor size at diagnosis. The improved availability of preoperative tissue diagnosis in these patients reduced the number of surgical procedures needed.

Does mammography hurt?

The documented incidence of pain associated with screening mammography varies from 1% to 62%. Some researchers suggest that pain may undermine compliance with screening mammography. As a part of a quality improvement project, we have surveyed women undergoing mammography in 2 centers in Jerusalem to identify the prevalence, severity, and duration of mammography-associated pain, demographic risk factors, and the degree that this may undermine compliance with breast cancer screening. A 23-item questionnaire was administered to 399 women (32% at the Shaare Zedek Medical Center [SZMC] and 68% at the Rachel Nash Comprehensive Breast Clinic [HALA]). Of the total, 77% of the women reported that the procedure was painful. Of those reporting pain, 60% described pain intensity as moderate or severe. In 67%, the pain resolved within 10 minutes. By univariate analysis, the only significant predictor for pain during mammography was cyclic breast pain (P = 0.053). No significant correlation was identified for age, breast size, pre-mammography counseling, and examination center (SZMC vs. HALA). The prevalence of pre-mammography counseling or explanation was low (51%). Despite that, 61% of the respondents expected that mammography would be painful. Indeed, most of those who anticipated pain reported that the actual severity was not greater than the anticipated severity. Even among women who reported pain of moderate or greater severity, less than 5% expressed preference to receive pre-emptive analgesia prior to their next mammogram. A substantial minority of women acknowledged that the experience of their mammography invoked reactions that may impend future compliance; 26% reported anxiety and 12% reported pain as factors that may interfere with ongoing compliance with regular mammographic screening. These data serve to emphasize the need for appropriate pre-test counseling and suggest a possible role for post-test debriefing to address those factors which may interfere with future test compliance.