{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:04:38Z","timestamp":1773270278212,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,6,29]],"date-time":"2004-06-29T00:00:00Z","timestamp":1088467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2004,11,20]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Women with a family history of breast cancer are at increased risk for developing this neoplasm. Starting surveillance more frequently at a younger age than the general population and the possibility of undergoing genetic testing are options for their medical management. We analyzed the benefits and costs of our clinical program in familial breast cancer (FBC) and carried out a cost\u2010effectiveness analysis of such procedure. The benefits and costs of performing genetic counseling and a screening program in FBC based on 143 high\u2010risk families registered in our database between June 1995 and December 2001 were analyzed. A decision tree was constructed to estimate the survival benefit and cost\u2010effectiveness of the clinical genetic counseling program compared with the strategy of not performing any screening protocol. We estimated that the prevalence of a <jats:italic>BRCA<\/jats:italic> mutation in an unaffected relative of our high\u2010risk cohort was 10% and that 53% of the mutations are found in the <jats:italic>BRCA1<\/jats:italic> gene. We assigned a 58.5% lifetime risk of breast cancer for a 30\u2010year\u2010old mutation carrier according to the SEER data. The effectiveness of the screening was obtained from our experience and data for estimating survival were derived from other studies with longer follow\u2010up. We used our local payment data to calculate the costs of the program. A mutation in the <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> genes was identified in 20% of the probands. Seventy primary breast cancer cases were recorded since the onset of the program. Thirty percent of the tumors were diagnosed through the screening program and 71% of them were lymph node\u2010negative compared to 49% of the tumors diagnosed outside the program (<jats:italic>p<\/jats:italic> = 0.1). The cost\u2010effectiveness ratio of our FBC genetic counseling and screening program was 4,294 euros per life\u2010year gained. The model was sensitive to the prevalence of mutation carriers, the lifetime risk of breast cancer and the effectiveness of the screening. In our setting and according to our model, this analysis suggests that a program of genetic testing and screening for breast cancer in a high\u2010risk population may be cost\u2010effective. These results need to be confirmed as more effective interventions for cancer prevention and screening are being implemented. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.20458","type":"journal-article","created":{"date-parts":[[2004,6,29]],"date-time":"2004-06-29T19:01:07Z","timestamp":1088535667000},"page":"647-652","source":"Crossref","is-referenced-by-count":35,"title":["Genetic counseling program in familial breast cancer: Analysis of its effectiveness, cost and cost\u2010effectiveness ratio"],"prefix":"10.1002","volume":"112","author":[{"given":"Judith","family":"Balma\u00f1a","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Sanz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Bonfill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfonso","family":"Casado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Montse","family":"Ru\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignasi","family":"Gich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orland","family":"D\u00edez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep M.","family":"Sabat\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Montserrat","family":"Baiget","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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