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      The Importance of Paternal Family History in Hereditary Breast Cancer Is Underappreciated by Health Care Professionals

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          Abstract

          Objectives: Cancer genetics clinics have been established in many major oncology centers worldwide in recent years. For such specialized clinics to fulfill their function, primary care physicians need to identify high-risk patients for referral. Methods: We conducted a survey to evaluate the level of awareness of breast cancer risk factors and hereditary breast cancer among health care providers and patients. Results: 284 health care professionals, 221 medical students, 104 breast cancer patients and 177 cancer-free women participated in the study. Less than half of the patients with breast cancer were aware of their risk for another breast cancer or of the increased breast cancer risk of their sisters and daughters. Less than one quarter of the health care professionals and medical students knew the importance of paternal family history in the evaluation for hereditary breast cancer. Only about half of the health care professionals and medical students and less than one third of the breast cancer patients and cancer-free women knew about genetic testing and prophylactic mastectomy as options for women at risk for hereditary breast cancer. Conclusions: Health care providers and medical students lack basic genetic knowledge and are not aware of emerging diagnostic and preventive options for hereditary breast cancer. Inclusion of cancer genetics in the continuing medical education of health care providers is important to promote such awareness.

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          Most cited references17

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          The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.

          Carriers of germ-line mutations in BRCA1 and BRCA2 from families at high risk for cancer have been estimated to have an 85 percent risk of breast cancer. Since the combined frequency of BRCA1 and BRCA2 mutations exceeds 2 percent among Ashkenazi Jews, we were able to estimate the risk of cancer in a large group of Jewish men and women from the Washington, D.C., area. We collected blood samples from 5318 Jewish subjects who had filled out epidemiologic questionnaires. Carriers of the 185delAG and 5382insC mutations in BRCA1 and the 6174delT mutation in BRCA2 were identified with assays based on the polymerase chain reaction. We estimated the risks of breast and other cancers by comparing the cancer histories of relatives of carriers of the mutations and noncarriers. One hundred twenty carriers of a BRCA1 or BRCA2 mutation were identified. By the age of 70, the estimated risk of breast cancer among carriers was 56 percent (95 percent confidence interval, 40 to 73 percent); of ovarian cancer, 16 percent (95 percent confidence interval, 6 to 28 percent); and of prostate cancer, 16 percent (95 percent confidence interval, 4 to 30 percent). There were no significant differences in the risk of breast cancer between carriers of BRCA1 mutations and carriers of BRCA2 mutations, and the incidence of colon cancer among the relatives of carriers was not elevated. Over 2 percent of Ashkenazi Jews carry mutations in BRCA1 or BRCA2 that confer increased risks of breast, ovarian, and prostate cancer. The risks of breast cancer may be overestimated, but they fall well below previous estimates based on subjects from high-risk families.
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            Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation.

            Women with a BRCA1 or BRCA2 mutation have a high risk of breast cancer and may choose to undergo prophylactic bilateral total mastectomy. We investigated the efficacy of this procedure in such women. We conducted a prospective study of 139 women with a pathogenic BRCA1 or BRCA2 mutation who were enrolled in a breast-cancer surveillance program at the Rotterdam Family Cancer Clinic. At the time of enrollment, none of the women had a history of breast cancer. Seventy-six of these women eventually underwent prophylactic mastectomy, and the other 63 remained under regular surveillance. The effect of mastectomy on the incidence of breast cancer was analyzed by the Cox proportional-hazards method in which mastectomy was modeled as a time-dependent covariate. No cases of breast cancer were observed after prophylactic mastectomy after a mean (+/-SE) follow-up of 2.9+/-1.4 years, whereas eight breast cancers developed in women under regular surveillance after a mean follow-up of 3.0+/-1.5 years (P=0.003; hazard ratio, 0; 95 percent confidence interval, 0 to 0.36). The actuarial mean five-year incidence of breast cancer among all women in the surveillance group was 17+/-7 percent. On the basis of an exponential model, the yearly incidence of breast cancer in this group was 2.5 percent. The observed number of breast cancers in the surveillance group was consistent with the expected number (ratio of observed to expected cases, 1.2; 95 percent confidence interval, 0.4 to 3.7; P=0.80). In women with a BRCA1 or BRCA2 mutation, prophylactic bilateral total mastectomy reduces the incidence of breast cancer at three years of follow-up.
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              Risks of cancer in BRCA1-mutation carriers

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                Author and article information

                Journal
                OCL
                Oncology
                10.1159/issn.0030-2414
                Oncology
                S. Karger AG
                0030-2414
                1423-0232
                2003
                April 2003
                21 April 2003
                : 64
                : 3
                : 220-226
                Affiliations
                Department of Haematology-Oncology, National University Hospital Singapore, Singapore
                Article
                69309 Oncology 2003;64:220–226
                10.1159/000069309
                12697961
                2bec431f-47e2-4012-9135-4099e8caf441
                © 2003 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                Page count
                Tables: 3, References: 42, Pages: 7
                Categories
                Clinical Study

                Oncology & Radiotherapy,Pathology,Surgery,Obstetrics & Gynecology,Pharmacology & Pharmaceutical medicine,Hematology
                Breast cancer,Hereditary breast cancer,Paternal family history,Cancer genetics,Family history

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