Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
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BACKGROUND: Studies of survival following breast and ovarian cancers in BRCA1 and/or BRCA2 mutation carriers have yielded conflicting results. We undertook an analysis of a community-based study of Ashkenazi Jews to investigate the effect of three founder mutations in BRCA1 and BRCA2 on survival among patients with breast or ovarian cancer. METHODS: We collected blood samples and questionnaire data from 5318 Ashkenazi Jewish volunteers. The blood samples were tested for 185delAG (two nucleotide deletion) and 5382insC (single nucleotide insertion) mutations in BRCA1 and the 6174delT (single nucleotide deletion) mutation in BRCA2. To estimate survival differences in the affected relatives according to their BRCA1 and/or BRCA2 mutation carrier status, we devised and applied a novel extension of the kin-cohort method. RESULTS: Fifty mutation carriers reported that 58 of their first-degree relatives had been diagnosed with breast cancer and 10 with ovarian cancer; 907 noncarriers reported 979 first-degree relatives with breast cancer and 116 with ovarian cancer. Kaplan-Meier estimates of median survival after breast cancer were 16 years (95% confidence interval [CI] = 11-40) in the relatives of carriers and 18 years (95% CI = 15-22) in the relatives of noncarriers, a difference that was not statistically significant (two-sided P = .87). There was also no difference in survival times among the 126 first-degree relatives with ovarian cancer. We found no survival difference between patients with breast or ovarian cancer who were inferred carriers of BRCA1 and/or BRCA2 mutations and noncarriers. CONCLUSIONS: Carriers of BRCA1 and BRCA2 mutations appeared to have neither better nor worse survival prognosis. (+info)
Tay-Sachs screening: motives for participating and knowledge of genetics and probability.
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A highly-educated, socially aware group of persons presented themselves for Tay-Sachs screening having learned about it mainly from friends, newspapers, radio, and television but not from physicians or rabbis. After learning that screening was possible and deciding that it is in principle a good idea, and after discussing it with relatives and friends but not with physicians and rabbis, they presented themselves for the test. Although the participants knew that Tay-Sachs is a serious disease and that Jews are vulnerable, few of them knew much about the genetics of the disease, its frequency, or the incidence of the carrier state. This experience of screening for Tay-Sachs carriers suggests the need for physicians to learn the relation of genetics to preventive medicine, and for the public to learn more about the biology of man. (+info)
The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.
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Three founder mutations in the cancer-associated genes BRCA1 and BRCA2 occur frequently enough among Ashkenazi Jews to warrant consideration of genetic testing outside the setting of high-risk families with multiple cases of breast or ovarian cancer. We estimated the prevalence of these founder mutations in BRCA1 and BRCA2 in the general population of Ashkenazi Jews according to age at testing, personal cancer history, and family cancer history. We compared the results of anonymous genetic testing of blood samples obtained in a survey of >5,000 Jewish participants from the Washington, DC, area with personal and family cancer histories obtained from questionnaires completed by the participants. In all subgroups defined by age and cancer history, fewer mutations were found in this community sample than in clinical series studied to date. For example, 11 (10%) of 109 Jewish women who had been given a diagnosis of breast cancer in their forties carried one of the mutations. The most important predictor of mutation status was a previous diagnosis of breast or ovarian cancer. In men and in women never given a diagnosis of cancer, family history of breast cancer before age 50 years was the strongest predictor. As interest in genetic testing for BRCA1 and BRCA2 in the Jewish community broadens, community-based estimates such as these help guide those seeking and those offering such testing. Even with accurate estimates of the likelihood of carrying a mutation and the likelihood of developing cancer if a mutation is detected, the most vexing clinical problems remain. (+info)
Racial differences in testing motivation and psychological distress following pretest education for BRCA1 gene testing.
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OBJECTIVES: We conducted a randomized trial to investigate racial differences in response to two alternate pretest education strategies for BRCA1 genetic testing: a standard education model and an education plus counseling (E + C) model. MATERIALS AND METHODS: Two hundred twenty-eight Caucasian women and 70 African American women with a family history of breast or ovarian cancer were contacted for a baseline telephone interview to assess sociodemographic characteristics, number of relatives affected with cancer, and race before pretest education. Outcome variables included changes from baseline to 1-month follow-up in cancer-related distress and genetic testing intentions, as well as provision of a blood sample after the education session. RESULTS: African American women were found to differ significantly from Caucasian women in the effects of the interventions on testing intentions and provision of a blood sample. Specifically, in African American women, E + C led to greater increases than education only in intentions to be tested and provision of a blood sample. These effects were independent of socioeconomic status and referral mechanisms. In Caucasian women, there were no differential effects of the interventions on these outcomes. Reductions in cancer-specific distress were evidenced in all study groups. However, this decrease, although not significantly different, was smallest among African American women who received E + C. CONCLUSIONS: In low- to moderate-risk African American women, pretest education and counseling may motivate BRCA1 testing. Further research is needed to explore the mechanisms of impact of the alternate pretest education strategies and to increase the cultural sensitivity of education and counseling protocols. (+info)
Library residencies and internships as indicators of success: evidence from three programs.
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This paper discusses post-master's degree internships in three very different organizations; the University of Illinois at Chicago, the National Library of Medicine, and the Library of Congress. It discusses the internships using several questions. Do the programs serve as a recruitment strategy? Do the programs develop key competencies needed by the participant or organization? Do the programs develop leaders and managers? Is acceptance into a program an indicator of future career success? A survey was mailed to 520 persons who had completed internships in one of the three programs. There was a 49.8% response rate. Responses to fifty-four questions were tabulated and analyzed for each program and for the total group. The results confirm the value of internships to the career of participants. (+info)
Tay-Sachs screening: social and psychological impact.
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Participants in two Tay-Sachs screening programs were generally satisifed with the organization of the tests and the results. There was no evidence of adverse impact on reproductive plans or interpersonal relations, and the respondents professed to believe in the value of screening. While the carriers discussed their condition freely with others and were no less favorable to the idea of screening than the noncarriers, about one-half of their number expressed discomfort in being told they were heterozygotes. These feelings were allayed by counseling, but there was evidence of some residual unease. It is suggested that this anxiety would be less prominent and more easily reduced if screening were done under conditions of ordinary primary medical care rather than outside the conventional system. (+info)
Evidence for concurrent epidemics of human herpesvirus 8 and human immunodeficiency virus type 1 in US homosexual men: rates, risk factors, and relationship to Kaposi's sarcoma.
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We examined human herpesvirus 8 (HHV-8) seroprevalence and seroincidence among 245 homosexual men from New York City (NYC) and Washington, DC (DC) who have been followed since 1982. An immunofluorescence assay measured antibodies to a latent HHV-8 nuclear antigen. Seroprevalence was 20.4% in 1982; seroincidence was approximately 15%/year during 1982-1983 but fell sharply thereafter. NYC men had a higher seroprevalence (odds ratio, 3.43; P<.001) and seroincidence (rate ratio, 2.13; P=.01) than DC men. Risk of Kaposi's sarcoma (KS) was increased in seropositive men (adjusted relative hazard, 3.58; P=.02). Among men who were seropositive for both human immunodeficiency virus type 1 and HHV-8, the 10-year cumulative risk of KS was 39%; time from coinfection to KS diagnosis ranged from 15 to 154 months (median, 63.5 months). This study shows an epidemic of HHV-8 among US homosexual men in the early 1980s that was associated with a high risk of developing KS. (+info)
Colorectal cancer surveillance in African-American and white patients at an urban university medical center.
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Colorectal cancer causes significant morbidity and mortality in the United States. Recommendations for colorectal cancer screening have been developed. This study evaluated the colorectal cancer screening practices of African-American and white patients by internal medicine resident physicians. A retrospective chart review was conducted during 1989-1994. The performance of rectal examination, fecal occult blood testing, and flexible sigmoidoscopy among patients > 50 years was evaluated. The medical records of 200 patients (90 men and 110 women) were reviewed. Ninety-one rectal examinations, 26 fecal occult blood testing, and 30 flexible sigmoidoscopies were performed. There were 129 African-American (54 men and 75 women) and 52 white (26 men and 27 women) patients. Of the African-American patients, 57 underwent a rectal examination, 17 had fecal occult blood testing, and 26 underwent flexible sigmoidoscopy. Of the white patients, 24 had a rectal examination, 8 had fecal occult blood testing, and 12 underwent flexible sigmoidoscopy. These results demonstrate that resident physicians adhered poorly to colorectal cancer screening recommendations. There was no statistically significant difference in the screening of African-American and white patients. Increased efforts should be made to improve colorectal cancer screening practices by resident physicians. (+info)