{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T08:34:35Z","timestamp":1791016475718,"version":"4.1.0"},"reference-count":29,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,11,1]]},"abstract":"<jats:sec>\n                  <jats:title>BACKGROUND<\/jats:title>\n                  <jats:p>The discovery of the breast and ovarian cancer susceptibility genes<jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>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<jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> and to determine the impact of receiving a positive<jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2<\/jats:italic> result. This is the first study to report on a large group of women who have received positive<jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2 <\/jats:italic>mutation results.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec sec-type=\"methods\">\n                  <jats:title>METHODS<\/jats:title>\n                  <jats:p>Questionnaires were distributed to 105 women who had received pre- and post-test genetic counselling for a positive<jats:italic>BRCA1<\/jats:italic>\/<jats:italic>2 <\/jats:italic>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS<\/jats:title>\n                  <jats:p>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).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSION<\/jats:title>\n                  <jats:p>These findings have a direct impact on the counselling and risk management of female <jats:italic>BRCA<\/jats:italic> 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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.37.11.866","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:37:59Z","timestamp":1027751879000},"page":"866-874","source":"Crossref","is-referenced-by-count":90,"title":["An evaluation of needs of female <i>BRCA1<\/i>and <i>BRCA2 <\/i>carriers undergoing genetic counselling"],"prefix":"10.1136","volume":"37","author":[{"given":"Kelly A","family":"Metcalfe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Liede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Hoodfar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrienne","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William D","family":"Foulkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A","family":"Narod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2000,11,1]]},"reference":[{"key":"2025100511312447000_37.11.866.1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7545954"},{"key":"2025100511312447000_37.11.866.2","doi-asserted-by":"publisher","DOI":"10.1038\/378789a0"},{"key":"2025100511312447000_37.11.866.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91578-4"},{"key":"2025100511312447000_37.11.866.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705153362001"},{"key":"2025100511312447000_37.11.866.5","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1996.03530480027036"},{"key":"2025100511312447000_37.11.866.6","doi-asserted-by":"crossref","unstructured":"Lerman C (1997) Outcomes study of BRCA1\/2 testing in members of hereditary breast-ovarian cancer (HBOC) families. 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