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1.
Metcalfe KA, Poll A, Llacuachaqui M, Nanda S, Tulman A, Mian N, Sun P, Narod SA. Patient satisfaction and cancer‐related distress among unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2. It is not known to what extent participation in a genetic testing program for BRCA1 and BRCA2, which does not include an extensive pre‐test counselling session, influences cancer‐related distress, cancer risk perception and patient satisfaction. Unselected Jewish women in Ontario were offered genetic testing for three common Jewish BRCA mutations. Before testing and 1‐year post‐testing, the women completed questionnaires which assessed cancer‐related distress, cancer risk perception, and satisfaction. A total of 2080 women enrolled in the study; of these, 1516 (73%) completed a 1‐year follow‐up questionnaire. In women with a BRCA mutation, the mean breast cancer risk perception increased from 41.1% to 59.6% after receiving a positive genetic test result (p = 0.002). Among non‐carriers, breast cancer risk perception decreased slightly, from 35.8% to 33.5% (p = 0.08). The mean level of cancer‐related distress increased significantly for women with a BRCA mutation, but did not change in women without a mutation; 92.8% expressed satisfaction with the testing process. The results of this study suggest that the majority of Jewish women who took part in population genetic screening for BRCA1 and BRCA2 were satisfied with the delivery of genetic testing and would recommend testing to other Jewish women. However, women with a BRCA mutation experienced increased levels of cancer‐related distress.  相似文献   

2.
PURPOSE: To evaluate attitudes about the benefits, limitations, and risks of genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations and explore testing intentions in African American women at increased risk for hereditary breast cancer. METHODS: Attitudes and intentions were evaluated by telephone in African American women (n = 74) at moderate and high risk for having a BRCA1/2 mutation. RESULTS: Attitudes about the benefits of genetic testing were endorsed at a higher rate relative to limitations and risks; however, only 30% of respondents indicated that they would definitely have testing. In regression analysis, women most likely to be considering testing were those with fatalistic beliefs about cancer and those who believed they had a BRCA1/2 mutation. Women who had two or more affected relatives were also most likely to be considering testing. Women who had a personal history of cancer and those who believed they were at high risk for developing breast cancer were most likely to report greater limitations and risks. Pros scores were higher among women older than age 50 and those who were unemployed. CONCLUSION: Although African American women at moderate and high risk for BRCA1/2 mutations report favorable attitudes about genetic testing, interest in testing may be limited. Women affected with cancer and those who believe they are at a higher risk for developing breast cancer may be most concerned about the negative consequences of testing. Increased attention may need to be given to beliefs about genetic testing and testing motivations during genetic counseling with African American women.  相似文献   

3.
Presymptomatic DNA testing for autosomal dominant hereditary breast/ovarian cancer (HBOC) became an option after the identification of the BRCA1 and BRCA2 genes in 1994-1995. Healthy female mutation carriers have a high lifetime risk for breast cancer (56-87%) or ovarian cancer (10-60%) and may opt for intensive breast and ovary surveillance or prophylactic surgery (mastectomy/oophorectomy).We studied general and cancer related distress in 85 healthy women with a 25% or 50% risk of being carrier of a BRCA1/BRCA2 gene mutation and 66 partners in the six to eight week period between genetic counselling/blood sampling and disclosure of the test result. Questionnaire and interview data are analysed. Associations are explored between levels of distress and (1) expected consequences of being identified as a mutation carrier, (2) personality traits, (3) sociodemographic variables, and (4) experiences related to HBOC.Mean pre-test anxiety and depression levels in women at risk of being a carrier and partners were similar to those of a normal Dutch population. In about 25% of those at risk of being a carrier and 10% of the partners, increased to high levels of general and cancer related distress were found. Increased levels of distress were reported by women who (1) anticipated an increase in problems after an unfavourable test outcome, (2) considered prophylactic mastectomy if found to be mutation carrier, (3) had an unoptimistic personality, (4) tended to suppress their emotions, (5) were younger than 40 years, and (6) were more familiar with the serious consequences of HBOC. Recently obtained awareness of the genetic nature of cancer in the family was not predictive of distress.The majority of the women and their partners experienced a relatively calm period before the disclosure of the test result and seemed to postpone distressing thoughts until the week of disclosure of the result. The low distress levels may partly be explained by the use of strategies to minimise the emotional impact of a possibly unfavourable test outcome. However, a minority reported feeling very distressed. Several factors were found to be predictive for increased distress levels.  相似文献   

4.
The objectives of this observational study were to describe the associations between cultural beliefs and values and participation in genetic risk assessment and testing among African American women at high risk for having a BRCA1 or BRCA2 (BRCA1/2) gene alteration. Subjects were 28 high-risk women who self-referred to a genetic counseling and testing research program. Overall, 61% subjects received BRCA1/2 test results and 39% declined. Mean levels of fatalistic beliefs about cancer and future temporal orientation were higher among test acceptors relative to decliners. Sociodemographic factors were not associated with test acceptance; however, rates of test acceptance were lower among women with greater perceptions of familial interdependence (41% versus 91%, P=0.02). The results of this study suggest that cultural beliefs and values may influence genetic testing decisions among African American women.  相似文献   

5.

Purpose

To evaluate the frequency and distribution of BRCA1 and BRCA2 mutations in a cohort of young women with breast cancer and to compare the distribution of mutations as a function of race.

Methods

After IRB approved informed consent, 170 white women and 30 African American women with known breast cancer diagnosed at a young age (45 years or less) underwent complete sequencing of the BRCA1 and BRCA2 genes. Each cohort represented approximately 40% of women of the same ethnic background aged 45 years or younger in a breast cancer database.

Results

Of the 200 patients tested, 131 (65%) had wild type mutations, 34 (17%) had deleterious mutations, and 35 (18%) had variants of uncertain significance. There were no significant differences between the white and African American cohorts regarding the percentage of deleterious mutations (17% v 17%). However, most African American patients had mutations in BRCA2 (4/5, 80%), while most mutations in the white cohort were in BRCA1 (20/29, 69%). In addition, 46% of the African American women had variants of uncertain significance, compared to only 12% of the white cohort.

Conclusions

Young African American women with breast cancer have a similar frequency of deleterious mutations as white women, but have a significantly higher frequency of variants of uncertain significance. Review of these variants revealed that the majority were unlikely to be associated with disease risk or were likely to be polymorphisms. The implications for genetic testing and counselling in young women with breast cancer are discussed.  相似文献   

6.
It is not clear if hereditary site-specific ovarian cancer exists as a genetic entity distinct from the hereditary breast-ovarian cancer syndrome. We have identified a large Ashkenazi Jewish kindred with 8 cases of ovarian carcinoma and no cases of breast cancer. Initially, linkage analysis for this kindred generated a negative LOD score to BRCA1, but subsequent mutation and haplotype analysis of key individuals demonstrated a BRCA1 185delAG mutation segregating with all but 1 of the ovarian cancer cases. This observation has important implications for genetic counselling of families with site-specific ovarian cancer. Hereditary site-specific ovarian cancer is likely to be a variant of the hereditary breast-ovarian cancer syndrome, attributable to either BRCA1 or BRCA2. We consider women from these families to be at increased risk of breast cancer and counsel them accordingly. Am. J. Med. Genet. 75:55–58, 1998. © 1998 Wiley-Liss, Inc.  相似文献   

7.
BACKGROUND—The discovery of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 has improved our ability to counsel women at increased risk of developing breast and ovarian cancer. The objective of our study was to identify the needs of women who have undergone genetic counselling and testing for BRCA1/2 and to determine the impact of receiving a positive BRCA1/2 result. This is the first study to report on a large group of women who have received positive BRCA1/2 mutation results.
METHODS—Questionnaires were distributed to 105 women who had received pre- and post-test genetic counselling for a positive BRCA1/2 result at the University of Toronto or at McGill University in Montreal, Canada between the years of 1994 and 1998. The questionnaire items included patient motivation for seeking genetic services, information needs, screening and prophylactic surgery practices, satisfaction with access to services and support, the desire for a support group, and overall client satisfaction.
RESULTS—Seventy nine female carriers were surveyed. The majority of the respondents (77%) were satisfied with the information they received during the genetic counselling process. Women with a previous diagnosis of cancer indicated that they needed more information relating to cancer treatment compared to women without cancer (p=0.05). Nineteen percent of the women felt they needed more support than was received. Fifty eight percent of the women reported that their screening practices had changed since they received their result. Young women (below the age of 50) and women with no previous diagnosis of cancer were most likely to have changed their screening practices. Nearly two thirds of the respondents said they had considered prophylactic surgery of the breasts or ovaries. Twenty eight percent of the women had prophylactic mastectomy and 54% had undergone prophylactic oophorectomy. Women with an educational level of high school or more were more likely to have undergone prophylactic bilateral mastectomy than those with less education (p=0.07) but were less likely to undergo prophylactic oophorectomy (p=0.0007).
CONCLUSION—These findings have a direct impact on the counselling and risk management of female BRCA mutation carriers. Age, education, and a previous diagnosis of cancer are important determinants in a woman's decision making after receiving positive genetic test results.


Keywords: genetic counselling; BRCA1; BRCA2; cancer genetics  相似文献   

8.
OBJECTIVE: Ovarian cancer is the leading cause of gynecological death in the United States, and 14% of ovarian cancer cases are attributed to BRCA1/2 hereditary mutations. This study examined (1) change in subjective ovarian cancer risk in response to genetic counseling and testing, (2) accuracy of subjective ovarian cancer risk estimates, and (3) new methods for conceptualizing subjective ovarian cancer risk based on Leventhal's Common Sense Model, in women at increased risk to carry BRCA1/2 mutations. METHODS: Women (n=78) were asked their subjective risk of ovarian cancer (in terms of a percentage, estimated survival time, and projected age of onset) at pre-counseling, post-counseling, 1 week post-result, and 6 months post-result. RESULTS: Women with a personal history of breast cancer were most inaccurate at pre- but improved post-counseling. Subjective survival time increased post-counseling. Accuracy of subjective risk improved at post-result for those with uninformative negative results. Subjective percentage risk and subjective survival time decreased at 6 months. CONCLUSIONS: Subjective risk changed in response to genetic counseling and testing. Common Sense Model-derived assessments of risk may be useful for understanding the impact of genetic counseling and testing. PRACTICE IMPLICATIONS: Genetic counseling can assist women at risk of carrying BRCA1/2 mutations to understand their risk of ovarian cancer, and genetic testing further refines their risk.  相似文献   

9.

Objective

Identify existing resources developed and/or evaluated empirically in the published literature designed to support women with breast cancer making decisions regarding genetic testing for BRCA1/2 mutations.

Methods

Systematic review of seven electronic databases. Studies were included if they described or evaluated resources that were designed to support women with breast cancer in making a decision to have genetic counselling or testing for familial breast cancer. Outcome and process evaluations, using any type of study design, as well as articles reporting the development of decision aids, were eligible for inclusion.

Results

Total of 9 publications, describing 6 resources were identified. Resources were effective at increasing knowledge or understanding of hereditary breast cancer. Satisfaction with resources was high. There was no evidence that any resource increased distress, worry or decisional conflict. Few resources included active functionalities for example, values-based exercises, to support decision-making.

Conclusion

Tailored resources supporting decision-making may be helpful and valued by patients and increase knowledge of hereditary breast cancer, without causing additional distress.

Practice implications

Clinicians should provide supportive written information to patients where it is available. However, there is a need for robustly developed decision tools to support decision-making around genetic testing in women with breast cancer.  相似文献   

10.
Population‐based testing for BRCA1/2 mutations detects a high proportion of carriers not identified by cancer family history‐based testing. We sought to determine whether population‐based testing is an effective approach to genetic testing in the Bahamas, where 23% of women with breast cancer carry one of seven founder mutations in the BRCA1 or BRCA2 gene. We determined the prevalence of founder BRCA mutations in 1847 Bahamian women without a personal history of breast or ovarian cancer, unselected for age or family history. We found that 2.8% (20/705) of unaffected women with a family history of breast/ovarian cancer and 0.09% (1/1089) of unaffected women without a family history carry a BRCA mutation. A total of 38% of unaffected women with a known mutation in the family were found to carry the familial mutation. We previously suggested that all Bahamian women with breast or ovarian cancer be offered genetic testing. These current data suggest that additionally all unaffected Bahamian women with a family history of breast/ovarian cancer should be offered genetic testing for the founder BRCA mutations.  相似文献   

11.

Objective

Female breast cancer patients carrying a BRCA1/2-mutation have an increased risk of second primary breast and ovarian tumors. Little is known about the psychological impact and treatment consequences of rapid genetic counseling and testing offered between breast cancer diagnosis and surgery.

Methods

Female breast cancer patients, who had received rapid genetic counseling (and optional testing) (RGC(T)) at The Netherlands Cancer Institute between 2004 and 2008, received a questionnaire in 2009.

Results

BRCA-mutations were found in 10 of the 26 participants. Six mutation-carriers (60%) had an immediate bilateral mastectomy, compared with 25% of those without a mutation. Five patients (19%) reported having frequent worries about cancer recurrence; none indicated that such worries impaired daily functioning. Six patients had clinically relevant levels of breast cancer-specific distress at the time of assessment.

Conclusion

These results suggest that RGC(T) in high-risk breast cancer patients may influence surgical treatment, without causing long-term psychosocial distress in the majority.

Practice implications

These results are important, since rapid genetic counseling and testing are expected to be offered to newly diagnosed breast cancer patients with increasing frequency in order to inform these women and their surgeons about the possible familial/hereditary nature of their disease before deciding on treatment.  相似文献   

12.
OBJECTIVE: Previous studies have identified specific attitudes (pros and cons) about BRCA testing held by women of African descent that are associated with decisions to participate in testing. These testing attitudes may be determined, in part, by temporal orientation, or how one perceives the significance of events and the consequences of their actions in terms of past, present, and future. The current study explored the relationship between temporal orientation and pros and cons of BRCA testing among 140 women of African descent with a family history suggestive of a genetic mutation predisposing to breast cancer. METHODS: Participants completed measures of temporal orientation and genetic testing attitudes. RESULTS: Multivariate analyses indicated that future orientation was positively associated with perceived pros of testing. Additional analyses revealed significant associations between temporal orientation and specific item subsets related to the negative and positive impact of testing on family and personal control over one's health. CONCLUSION: These results support an association between temporal orientation and attitudes about BRCA testing among women of African descent with family histories of breast cancer. PRACTICE IMPLICATIONS: Findings support exploration of temporal orientation in future research on BRCA testing decisions among women of African descent and this construct's importance in developing decision aids and tailoring genetic counseling.  相似文献   

13.
Prophylactic mastectomy (PM) is a risk-management option for women at high familial risk of breast cancer (BC). This study describes the PM experience of women enrolled in a large observational cohort study involving families with a history of hereditary breast cancer. Within 357 multiple-case BC families [119 (33%) BRCA1 or BRCA2 mutation positive], identified via family cancer clinics, 49 cases of PM [21 (43%) BRCA1 or BRCA2 mutation positive] were identified and their clinical, pathological and genetic features reviewed. Families with at least one incidence of PM displayed stronger breast/ovarian cancer histories than did families without PM. Median age at time of PM was 45 years (range 28-58). Ten cases (21%) were bilateral PMs in unaffected women and 39 cases were contralateral PMs in women with prior invasive BC (71%) or ductal carcinoma in situ (DCIS) (8%). Most (88%) underwent total mastectomy. Unnecessary axillary surgery occurred in eight subjects (16%). Malignant histology was found in three PM specimens (6%). Prior to genetic testing, PM was performed in two women who were subsequently shown not to carry the mutation specific to their family. Optimal utilization of genetic testing to guide surgical decision making, appropriate surgical technique and careful pathology examination of PM specimens, are important issues to consider prior to PM in women at high familial risk of BC.  相似文献   

14.
Although retention is a critical component of longitudinal cancer genetics research, limited empirical data are available on predictors of study retention among populations that are difficult to enroll. We evaluated predictors of retention in cancer genetics research among African American women at increased risk for having a BRCA1 and BRCA2 (BRCA1/2) mutation. Participants were African American women (n = 192) at increased risk for hereditary breast-ovarian cancer who were enrolled in a longitudinal genetic counseling research study. Retention was evaluated separately for the 1- and 6-month follow-ups and in terms of overall retention (e.g., completion of both telephone interviews). Seventy-three percent of women and 65% of women were retained at the 1- and 6-month follow-ups respectively; in terms of overall retention, 60% of women were retained in both follow-up telephone interviews. Predictors of retention at 1-month included being employed (OR = 2.47, 95% CI = 1.24, 4.93, P = 0.01) whereas predictors of overall retention included having a personal history of breast and/or ovarian cancer (OR = 2.06, 95% CI = 1.07, 3.95, P = 0.03) and having completed genetic counseling (OR = 2.63, 95% CI = 1.39, 4.98, P = 0.003). These data suggest that once enrolled in genetic counseling research, the majority of African American women will continue to participate, especially if concrete clinical services are provided.  相似文献   

15.
Pal T, Stowe C, Cole A, Lee J‐H, Zhao X, Vadaparampil S. Evaluation of phone‐based genetic counselling in African American women using culturally tailored visual aids. Genetic counselling (GC) services for inherited breast and ovarian cancer (HBOC) are underutilized by African American (AA) women. We sought to evaluate factors associated with knowledge gain in a sample of AA women diagnosed with early‐onset breast cancer, in whom GC for HBOC was provided, using a culturally targeted genetic counselling aid (GCA). Through a cancer registry‐based study, phone‐based GC for HBOC was offered to AA women with breast cancer ≤50. A questionnaire to assess knowledge about HBOC was completed prior to GC. All women were provided a GCA about HBOC developed by the investigative team for use during the GC session. Following GC, a personalized summary letter was mailed to all study participants and the same knowledge questionnaire was completed. A total of 37 study participants completed the pre‐ and post‐GC knowledge questionnaires with significant gains in knowledge following the GC process (p < 0.0001). Statistically significant factors associated with knowledge gain included earlier stage of diagnosis of breast cancer and education level. Our results indicate that phone‐based GC supplemented by a culturally targeted visual aid is an effective means of improving knowledge about HBOC in young AA women with invasive breast cancer.  相似文献   

16.
For women who carry a mutation in BRCA1 or BRCA2, the risk of breast cancer is up to 87% by the age of 70. There are options available to reduce the risk of breast cancer; however, each option has both risks and benefits, which makes decision making difficult. The objective is to develop and pilot test a decision aid for breast cancer prevention for women with a BRCA1 or BRCA2 mutation. The decision aid was developed and evaluated in three stages. In the first stage, the decision aid was developed and reviewed by cancer genetics experts. The second stage was a review of the decision aid by women with a BRCA1 or BRCA2 mutation for acceptability and feasibility. The final stage was a pre-test--post-test evaluation of the decision aid. Twenty-one women completed the pre-test questionnaire and 20 completed the post-test questionnaire. After using the decision aid, there was a significant decline in mean decisional conflict scores (p = 0.001), a significant improvement in knowledge scores (p = 0.004), and fewer women uncertain about prophylactic mastectomy (p = 0.003) and prophylactic oophorectomy (p = 0.009). Use of the decision aid decreased decisional conflict to levels suggestive of implementation of a decision. In addition, knowledge levels increased and choice predisposition changed with fewer women being uncertain about each option. This has significant clinical implications as it implies that with greater uptake of cancer prevention options by women with a BRCA1 or BRCA2 mutation, fewer women will develop and/or die of hereditary breast cancer.  相似文献   

17.
Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation, and if so, to opt for undergoing frequent surveillance and/or prophylactic surgery. However, the option to know about one's genetic status is not always seen as a benefit by women at risk. Motives for declining genetic testing were explored in 13 women at 25% or 50% risk to be a BRCA1/BRCA2 mutation carrier, who participated in a surveillance program for breast/ovarian cancer (the non-tested group). We hypothesized that high anxiety might be an important motive to decline testing. In addition, we investigated whether the non-tested group differed from a reference group of women who did undergo the test (tested group; n = 85) with regard to biographical factors, experience with cancer in relatives, and personality traits. Most non-tested women (10/13) were satisfied with participating in the surveillance program. Four reported to feel emotionally unprepared to cope with the consequences of testing. Compared with the tested group, the non-tested women had similar mean distress levels (which were not high), but a higher education level, they were more often childless, showed more reluctance towards prophylactic surgery, were younger when first confronted with a relative affected with breast/ovarian cancer, and were longer aware of the genetic nature of the disease. This study showed that women were more likely to have thoroughly reflected on their decision not to undergo genetic testing, than to deny the whole issue due to high anxiety. Being confronted at a relatively young age with breast/ovarian cancer in a relative, and being aware of the genetic risk for a many years, may have resulted in the risk for cancer becoming an integrated part of their lives. However, generalization of these results to women who neither underwent the test nor participated in a surveillance program should be considered with caution.  相似文献   

18.
Informed consent for genetic testing for breast–ovarian cancer susceptibility requires that women understand basic concepts about the inheritance of cancer susceptibility and the benefits and risks associated with genetic testing. Women awaiting routine medical services (N = 220) were surveyed about their knowledge of breast cancer and cancer genetics and their perceptions of genetic testing and personal risk. There were no racial differences in median income or mean level of education. Compared to Caucasian women, African American women knew significantly less about breast cancer and about genetic risk for breast cancer. African American women had different psychological, social, and economic concerns as evidenced by how they weighted the benefits and risks of genetic testing. This study is the first to assess several dimensions of informed consent for genetic testing among a sociodemographically diverse group. The findings should enable health professionals to target the African American and lower-income populations with the appropriate education and counseling.  相似文献   

19.
It remains uncertain whether members of hereditary breast and ovarian cancer (HBOC) families experience psychological distress with genetic testing and whether pre-test counseling can have a moderating effect on client well-being. One purpose of this study was to assess change in psychological well-being from baseline to 6-9 months follow-up and the effect of a problem-solving training (PST) intervention on psychological well-being. Two hundred and twelve members of 13 HBOC families were offered BRCA1/2 testing for a previously identified family mutation. Participants received education and were randomized to one of two counseling interventions; PST or client-centered counseling. Psychological well-being was assessed at baseline and again at 6-9 months following the receipt of test results, or at the equivalent time for those participants who chose not to undergo testing. Well-being was assessed using measures of depressive symptoms (CESD), intrusive thoughts (IES), cancer worries, and self-esteem. Comparisons were made between those who chose testing and those who did not as well as between those who received positive and negative test results. One hundred eighty one participants elected to undergo genetic testing (85%) and 47 of these (26%) were identified as BRCA1/2 mutation carriers. Breast and ovarian cancer worries decreased significantly (p = 0.007 and 0.008, respectively) in those who tested negative while there was no appreciable change in psychological well-being from baseline to follow-up in either those who tested positive or in non-testers. Among all participants, particularly testers, those randomized to PST had a greater reduction in depressive symptoms than those randomized to client-centered counseling (p < 0.05 and p = 0.02, respectively). Regardless of the decision to test, individuals with a personal history of cancer (n = 22) were more likely to have an increase in breast cancer worries compared to those who had never been diagnosed with cancer (p < 0.001). Results suggest that a problem-solving counseling intervention may help to enhance psychological well-being following testing and that a personal history of cancer may increase psychological distress associated with genetic testing.  相似文献   

20.
Despite an increase in direct-to-consumer (DTC) genetic testing, little is known about how variations in website content might alter consumer behavior. We evaluated the impact of risk information provision on women's attitudes about DTC BRCA testing. We conducted a randomized experiment; women viewed a 'mock' BRCA testing website without [control group (CG)] or with information on the potential risks of DTC testing [RG; framed two ways: unattributed risk (UR) information and risk information presented by experts (ER)]. Seven hundred and sixty-seven women participated; mean age was 37 years, mean education was 15 years, and 79% of subjects were white. Women in the RG had less positive beliefs about DTC testing (mean RG = 23.8, CG = 25.2; p = 0.001), lower intentions to get tested (RG = 2.8, CG = 3.1; p = 0.03), were more likely to prefer clinic-based testing (RG = 5.1, CG = 4.8; p = 0.03) and to report that they had seen enough risk information (RG = 5.3, CG = 4.7; p < 0.001). UR and ER exposure produced similar effects. Effects did not differ for women with or without a personal/family history of breast/ovarian cancer. Exposing women to the potential risks of DTC BRCA testing altered their beliefs, preferences, and intentions. Risk messages appear to be salient to women irrespective of their chance of having a BRCA mutation.  相似文献   

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