{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:40:28Z","timestamp":1773268828295,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,2,7]],"date-time":"2003-02-07T00:00:00Z","timestamp":1044576000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>BRCA1<\/jats:italic> gene are associated with an increased risk of breast and ovarian cancer in carrier women. An understanding of behavioral responses to <jats:italic>BRCA1<\/jats:italic> mutation testing by mutation carriers and non\u2010carriers is important to guide the clinical application of this new technology. This study examined the utilization of genetic testing for a <jats:italic>BRCA1<\/jats:italic> mutation in high\u2010risk individuals and the response of tested women with respect to interventions for early cancer detection and prevention. This study assessed the utilization of genetic testing for both men and women in a large kindred and the behavioral responses by women with respect to use of health care interventions during the 2 years following testing. Participants were offered <jats:italic>BRCA1<\/jats:italic> mutation testing. Surveillance behaviors related to breast and ovarian cancer were assessed by computer\u2010assisted telephone interviews at baseline (prior to genetic counseling and testing), 1\u20132 weeks, 4\u20136 months, 1 and 2 years after the provision of test results. Mutation carriers, non\u2010carriers, and individuals of unknown mutation status were compared to determine the impact of test results. Utilization of genetic testing for both men and women are reported and, for women, mammography, breast self\u2010exam, clinical breast exam, mastectomy, oophorectomy, transvaginal ultrasound, and CA125 screening were assessed. Of those fully informed of the opportunity for testing, 55% of the women and 52% of the men pursued genetic testing. With respect to mammography for women 40 years and older, 82% of mutation carriers obtained a mammogram in each year following testing compared to 72% of non\u2010carrier women the first year and 67% the second year. This mammography utilization represents a significant increase over baseline for both mutation carriers and non\u2010carriers. Younger carrier women also significantly increased their mammography utilization from baseline. Overall, 29% of the carrier women did not obtain a single mammogram by 2 years post\u2010testing. At 2 years, 83% of the carrier women and 74% of the non\u2010carriers reported adherence to recommendations for breast self\u2010exam and over 80% of carrier women had obtained a clinical breast examination each year following testing. None of the carrier women had obtained a prophylactic mastectomy by 2 years after testing, although 11% were considering this procedure. Of carrier women 25 years of age and older who had at least one intact ovary at the time of testing, 46% of carriers had obtained an oophorectomy 2 years after testing, including 78% of women 40 years of age and older. The majority of carrier women (73%) had discussed their genetic test results with a medical doctor or health care provider. Our results indicate utilization of genetic testing by a majority of high\u2010risk individuals who received information about testing. Both carriers and non\u2010carriers increased their utilization of mammography and breast self\u2010exam following testing. Oophorectomy was obtained by a large proportion of carrier women in contrast to mastectomy which was not utilized within the first 2 years following testing. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10102","type":"journal-article","created":{"date-parts":[[2003,3,31]],"date-time":"2003-03-31T12:03:18Z","timestamp":1049112198000},"page":"201-209","source":"Crossref","is-referenced-by-count":152,"title":["Genetic testing for a <i>BRCA1<\/i> mutation: Prophylactic surgery and screening behavior in women 2 years post testing"],"prefix":"10.1002","volume":"118A","author":[{"given":"Jeffrey R.","family":"Botkin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken R.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert T.","family":"Croyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bonnie J.","family":"Baty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean E.","family":"Wylie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra","family":"Dutson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi A.","family":"Hamann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caryn","family":"Lerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie","family":"McDonald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vickie","family":"Venne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John H.","family":"Ward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Lyon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,2,7]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"10","volume-title":"Cancer facts & figures 2001","author":"American Cancer Society","year":"2001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1001\/jama.1993.03510190077030","article-title":"Attitudes toward direct predictive testing for the Huntington disease gene: Relevance for other adult\u2010onset disorders","volume":"270","author":"Babul R","year":"1993","journal-title":"JAMA"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025620404473"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1993.03500150082032"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/88.13.872"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03540360065034"},{"key":"e_1_2_6_8_1","unstructured":"Centers for Disease Control and Prevention.2000. 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