Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011570 (depression)
 172,036 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The recent cloning of a breast-ovarian cancer susceptibility gene (BRCA1), and determination of the locus of a related gene (BRCA2), offers potential for clinical genetic testing for breast cancer susceptibility. This study examined interest in and expectations about an impending genetic test among first-degree relatives (FDRs) of breast cancer patients. One hundred five females completed two structured telephone interviews to assess demographics, breast cancer risk factors, psychological factors, and attitudes about genetic testing for breast cancer susceptibility. Overall, 91% of FDRs said that they would want to be tested, 4% said they would not, and 5% were uncertain. The most commonly cited reasons for wanting genetic testing were to learn about one's children's risk, to increase use of cancer screening tests, and to take better care of oneself. Women with less formal education were motivated by childbearing decisions and future planning to a greater degree than were women with education beyond high school. Most women anticipated a negative psychological impact of positive test results, involving increased anxiety (83%), depression (80%), and impaired quality of life (46%). In addition, 72% of women indicated that they would still worry if they tested negative. In multivariate regression analysis, level of baseline depression was the strongest predictor of an anticipated negative impact of genetic testing (Beta = .15; P, .0001). These results suggest that the demand for genetic testing for breast cancer susceptibility may be great, even among women who are not likely to have predisposing mutations.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Interest in genetic testing among first-degree relatives of breast cancer patients. 767 39

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.
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PMID:Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? Rotterdam/Leiden Genetics Working Group. 1059 98

The intent of this study was to evaluate the effect that an awareness of being a BRCA1 or BRCA2 mutation carrier has on the attitude towards prophylactic surgery and on developing depression symptoms. Thirty-five families were selected on the basis of previously detected BRCA1 or 2 mutations and 90 family members were given the appropriate questionnaires. Prophylactic mastectomy (PM) was considered by 21% of the Austrian mutation carriers (29% affected and 8% non-affected carriers). The majority of affected and non-affected carriers expected PM to impair the quality of their life. Fifty per cent would undergo prophylactic oophorectomy (53% affected and 46% non-affected carriers). The self-rating depression scale indicated that following mutation result disclosure the depression scores of carriers decreased (40 baseline vs 38 after result disclosure, P = 0.3), whereas, for non-carriers, scores increased (36 baseline vs 40 after result disclosure, P = 0.05). We conclude that information about carrier status is not associated with increased depression symptoms in mutation carriers. In non-carriers, depression scores increased slightly, probably reflecting survivor guilt. The option of having PM was associated with a negative impact on the quality of life and was declined by the majority of Austrian mutation carriers.
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PMID:Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group. 1075 96

Heritable cancer risk assessment is an increasingly common method of deriving valuable information relevant to deciding on appropriate screening regimens and preventive treatments. Assessments of heritable risk typically include familial-genetic evaluation, where analyses relate family pedigree to cancer risk, and DNA testing, where analyses indicate genetic mutations associated with cancer risk (e.g., BRCA1/BRCA2 mutations) or their absence. In this paper we report on the psychological responses of women given familial-genetic evaluations for ovarian cancer risk. The baseline and 6 to 12 follow-up assessments of an initial clinic-attending cohort of 65 women are compared with the baseline and 9 to 12 follow-up assessments of a second clinic-attending cohort of 60 women. Sizeable differences were found in the prevalence of clinically significant depression in these two physician or self-referred populations, as assessed by the Center for Epidemiological Studies Depression scale and in the mean scores. Hypotheses accounting for these differences are discussed.
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PMID:Psychological adjustment to familial genetic risk assessment: differences in two longitudinal samples. 1077 70

Mutation analysis for autosomal dominant hereditary breast/ovarian cancer genes (BRCA1/BRCA2) became an important technique for women at risk of carrying these mutations. Healthy female mutation carriers have a high lifetime risk for breast and/or ovarian cancer and may opt for frequent breast and ovary surveillance or prophylactic surgery (mastectomy and/or oophorectomy). Psychological distress was assessed in 78 healthy women at risk of having inherited a BRCA1/BRCA2 mutation opting for genetic testing and 56 partners several weeks prior to ("pre-test") and after ("post-test") learning about their DNA test result. Twenty-five women were found to be mutation carriers, and 53 were non-mutation carriers. One goal of the study was to identify individuals at risk for high distress in the weeks following disclosure of the test result. Interview transcripts were used to give a fuller picture of pre- and post-test distress. High post-test anxiety was reported by 20% of the mutation carrier women and by 35% of their partners. Eleven percent of women without the mutation and 13% of their partners reported high post-test anxiety levels. High post-test anxiety in women was significantly related to 1) a high level of pre-test anxiety and 2) being a mutation carrier. Women without a mutation who had a sister identified as a mutation carrier recently had higher post-test levels of depression than the other non-mutation carriers. It is suggested to consider seriously the need for psychological support in mutation carriers who had been anxious at pre-test already. For most non-mutation carriers, psychological follow-up might be of lesser importance, but those having a sister receiving an unfavorable test result should be informed about the possibility that they might not feel relief.
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PMID:Psychological impact of receiving a BRCA1/BRCA2 test result. 1142 50

Psychological adjustment in 90 women (30 carriers and 60 non-carriers) who had undergone genetic testing for mutations in BRCA1 and BRCA2 breast/ovarian cancer susceptibility genes was compared with that of 53 women who were not offered genetic testing. Women were assessed prior to genetic testing and 7-10 days, 4 and 12 months after carrier status disclosure using self-administered questionnaires. Compared with women not offered testing, mutation carriers had significantly higher breast cancer distress 7-10 days (t=2.80, P=0.005) and 12 months (t=2.01, P=0.045) post-notification. Non-carriers showed a significant decrease in state anxiety 7-10 days post-notification (t=2.27, P=0.024) and in depression 4 months post-notification (t=2.26, P=0.024), compared with women not offered testing. These data show that non-carriers derive psychological benefits from genetic testing. Women testing positive may anticipate a sustained increase in breast cancer distress following disclosure, although no other adverse psychological outcomes were observed in this group.
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PMID:Psychological impact of genetic testing in women from high-risk breast cancer families. 1237 8

Although women who carry BRCA1 or BRCA2 mutations have up to an 85% lifetime risk of breast cancer, the majority choose to forego prophylactic mastectomy, which has been proven to markedly lower breast cancer mortality, and opt for lifelong intensive surveillance. Whether surveillance lowers breast cancer mortality in these women is unknown. However, in a formal survey of 34 of these women, 82% indicated a strong belief in the ability of surveillance to find breast cancer at a stage when it is still curable. Since 1997 we have been conducting a study to compare the sensitivity of breast magnetic resonance imaging (MRI), ultrasound, mammography and clinical breast examination (CBE) in women at high risk for hereditary breast cancer. Breast cancer incidence rates have been even higher than predicted for this population. The addition of MRI and ultrasound to conventional surveillance with mammography and CBE significantly improves sensitivity, but at the expense of decreased specificity. Two years ago we began a formal study of distress and breast cancer anxiety. A sample of 25 new and ongoing participants in the surveillance study have completed the Hospital Anxiety and Depression Scale together with the Breast Cancer Worry Scale, up to six times per year over a 2-year period. To date there has been no evidence of any impact of intensive surveillance, including false-positive studies, on anxiety, depression or breast cancer worry.
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PMID:Intensive radiologic surveillance: a focus on the psychological issues. 1528 Jan 80

A prospective study of psychosocial consequences following predictive testing for inherited mutations in breast/ovarian and colon cancer susceptibility genes BRCA1, BRCA2, MLH1, and MSH2 was performed. Eighty-seven healthy women were tested for known family mutations and self-assessment scales were used to evaluate anxiety, depression and quality of life. Extensive pre- and post-test information was given. Questionnaires were responded before testing and four times after during the following year. A statistically significant decrease in anxiety mean scores over time was observed among the studied participants. The levels of depression in cancer genes carriers decreased over time while, surprisingly the levels in non-carriers increased. Compared to a normative Swedish sample all women tested showed similar levels of anxiety but women tested for breast cancer genes showed statistically lower levels of depression. Vitality dropped initially after disclosure of the testing of colon cancer genes carriers, followed by increasing levels. No change in vitality or in other quality of life parameters was seen in the other groups and the levels were similar to Swedish norm data. Most tested individuals were satisfied with the testing procedure including genetic counselling and testing and all of them but one would redo the testing. Healthy self-referred women going through predictive breast/ovarian or colon cancer gene testing, including extensive pre- and post-test information and support, in general, will not experience adverse psychological consequences.
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PMID:Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up. 1534 Feb 61

We conducted an exploratory, qualitative study investigating experiences of women who had developed breast cancer under the age of 40 and who were identified as BRCA1 or BRCA2 mutation carriers. These germline mutation carriers face an increased lifetime risk of a second primary breast cancer and an increased risk for a primary ovarian cancer. Thirteen women who fit this criteria participated in three focus groups conducted at a major cancer center in the UK during Spring 2003. We asked broad, open-ended questions that allowed for a wide range of responses about their cancer and genetic testing experiences, physical and psycho-social concerns, family and partner reactions and their need for social support. The women expressed feelings of devastation, loneliness, feeling different and isolation, ambivalence about having to support family members, worries about partner's anxiety and depression, and anxiety about talking to family members, especially children. These feelings were stronger after the cancer diagnosis and compounded by the genetic test results that occurred at a later time. We also found that, at least temporarily, the women experienced what we call "social separation"--emotional distance from, or dissonance with groups they interact with or are part of, e.g., family and friends, frequently leading to a reduction in communication or a change in previously unstated, but accepted normal interaction. We concentrate on a few characteristics of social separation-feelings of aloneness, isolation and separation, use of silence and verbal discretion, the relationship between estrangement and kinship interaction and norm disruption, and are looking at social patterns of interpersonal relationships that may occur when risk and illness statuses are new and framing and feeling rules have not as yet been clearly developed due to a cultural lag.
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PMID:"Social separation" among women under 40 years of age diagnosed with breast cancer and carrying a BRCA1 or BRCA2 mutation. 1672 73

To predict which women might suffer from abnormally high levels of anxiety and depression after receiving a positive genetic BRCA1 test result, series of pregenetic testing and postgenetic testing psychological measurements were performed. Of 3524 women who returned the psychological test sheets before receiving their genetic test result, 111 women were found to carry a BRCA1 mutation. We found that overall, anxiety does not increase in women who receive a positive BRCA1 genetic test result; however, women who experience high levels of anxiety before genetic testing continue to experience high levels of anxiety up to 1 year posttesting. There were differences in cancer-related distress in affected and unaffected women. BRCA1 carriers with a previous diagnosis of cancer had significantly higher levels of cancer-related distress at 1 month posttest than those without cancer. Our findings suggest that healthcare providers should consider including a brief pretest psychological assessment before initiating genetic testing for BRCA1 and BRCA2.
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PMID:Identification of patients at high risk of psychological distress after BRCA1 genetic testing. 1940 74


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