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No news is (not necessarily) good news: Impact of preliminary results for BRCA1 mutation searches

Purpose: Many women who have had breast or ovarian cancer who are undergoing tests for the presence of germline mutations in the BRCA1/2 genes will receive a result that is inconclusive. As this continuing uncertainty may have a detrimental effect on their psychological well-being and it is possible... Full description

Journal Title: Genetics in medicine 2002, Vol.4 (5), p.353-358
Main Author: Bish, Alison
Other Authors: Sutton, Stephen , Jacobs, Christine , Levene, Sara , Ramirez, Amanda , Hodgson, Shirley
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: United States: Elsevier Inc
ID: ISSN: 1098-3600
Link: https://www.ncbi.nlm.nih.gov/pubmed/12394348
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title: No news is (not necessarily) good news: Impact of preliminary results for BRCA1 mutation searches
format: Article
creator:
  • Bish, Alison
  • Sutton, Stephen
  • Jacobs, Christine
  • Levene, Sara
  • Ramirez, Amanda
  • Hodgson, Shirley
subjects:
  • Adult
  • affected women
  • Aged
  • BRCA1 Protein - genetics
  • BRCA1 results
  • breast and ovarian cancer genetics
  • Breast Neoplasms - diagnosis
  • Breast Neoplasms - genetics
  • Breast Neoplasms - psychology
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease - psychology
  • Genetic Testing - psychology
  • Germ-Line Mutation
  • Humans
  • Longitudinal Studies
  • Middle Aged
  • Ovarian Neoplasms - diagnosis
  • Ovarian Neoplasms - genetics
  • Ovarian Neoplasms - psychology
  • Perception
  • Prospective Studies
  • psychological distress
  • Risk Factors
  • risk perceptions
  • Stress, Psychological - psychology
  • Surveys and Questionnaires
ispartof: Genetics in medicine, 2002, Vol.4 (5), p.353-358
description: Purpose: Many women who have had breast or ovarian cancer who are undergoing tests for the presence of germline mutations in the BRCA1/2 genes will receive a result that is inconclusive. As this continuing uncertainty may have a detrimental effect on their psychological well-being and it is possible that such results will be misinterpreted as indicating that no mutation is present, studying their effect is important. Methods: Sixty-one women undergoing such tests completed questionnaires 2 weeks after their blood was taken and at 1 week and 6 months after receiving a preliminary “inconclusive” result, i.e., indicating that two thirds of the BRCA1 gene had been tested and no mutation had been found so far. Results: Perceived likelihood of having a mutation and perceptions of cancer risk significantly decreased after receipt of the interim result. There were no changes in levels of psychological distress and worry about cancer, in intentions to have mammograms, to carry out breast self-examination, or to have prophylactic surgery. Conclusions: The continuing uncertainty does not seem to have increased distress; however, it is possible that the inconclusive result is being interpreted as a “good news” result, in view of the fact that perceptions of risk decrease after receipt of the result.
language: eng
source:
identifier: ISSN: 1098-3600
fulltext: no_fulltext
issn:
  • 1098-3600
  • 1530-0366
url: Link


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creatorBish, Alison ; Sutton, Stephen ; Jacobs, Christine ; Levene, Sara ; Ramirez, Amanda ; Hodgson, Shirley
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descriptionPurpose: Many women who have had breast or ovarian cancer who are undergoing tests for the presence of germline mutations in the BRCA1/2 genes will receive a result that is inconclusive. As this continuing uncertainty may have a detrimental effect on their psychological well-being and it is possible that such results will be misinterpreted as indicating that no mutation is present, studying their effect is important. Methods: Sixty-one women undergoing such tests completed questionnaires 2 weeks after their blood was taken and at 1 week and 6 months after receiving a preliminary “inconclusive” result, i.e., indicating that two thirds of the BRCA1 gene had been tested and no mutation had been found so far. Results: Perceived likelihood of having a mutation and perceptions of cancer risk significantly decreased after receipt of the interim result. There were no changes in levels of psychological distress and worry about cancer, in intentions to have mammograms, to carry out breast self-examination, or to have prophylactic surgery. Conclusions: The continuing uncertainty does not seem to have increased distress; however, it is possible that the inconclusive result is being interpreted as a “good news” result, in view of the fact that perceptions of risk decrease after receipt of the result.
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subjectAdult ; affected women ; Aged ; BRCA1 Protein - genetics ; BRCA1 results ; breast and ovarian cancer genetics ; Breast Neoplasms - diagnosis ; Breast Neoplasms - genetics ; Breast Neoplasms - psychology ; Female ; Genetic Counseling ; Genetic Predisposition to Disease - psychology ; Genetic Testing - psychology ; Germ-Line Mutation ; Humans ; Longitudinal Studies ; Middle Aged ; Ovarian Neoplasms - diagnosis ; Ovarian Neoplasms - genetics ; Ovarian Neoplasms - psychology ; Perception ; Prospective Studies ; psychological distress ; Risk Factors ; risk perceptions ; Stress, Psychological - psychology ; Surveys and Questionnaires
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abstractPurpose: Many women who have had breast or ovarian cancer who are undergoing tests for the presence of germline mutations in the BRCA1/2 genes will receive a result that is inconclusive. As this continuing uncertainty may have a detrimental effect on their psychological well-being and it is possible that such results will be misinterpreted as indicating that no mutation is present, studying their effect is important. Methods: Sixty-one women undergoing such tests completed questionnaires 2 weeks after their blood was taken and at 1 week and 6 months after receiving a preliminary “inconclusive” result, i.e., indicating that two thirds of the BRCA1 gene had been tested and no mutation had been found so far. Results: Perceived likelihood of having a mutation and perceptions of cancer risk significantly decreased after receipt of the interim result. There were no changes in levels of psychological distress and worry about cancer, in intentions to have mammograms, to carry out breast self-examination, or to have prophylactic surgery. Conclusions: The continuing uncertainty does not seem to have increased distress; however, it is possible that the inconclusive result is being interpreted as a “good news” result, in view of the fact that perceptions of risk decrease after receipt of the result.
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