{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T21:53:22Z","timestamp":1787003602440,"version":"build-2736575974"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T00:00:00Z","timestamp":1633910400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T00:00:00Z","timestamp":1633910400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universit\u00e4tsklinikum Hamburg-Eppendorf (UKE)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The detection of a pathogenic variant in the\n                    <jats:italic>BRCA1<\/jats:italic>\n                    or\n                    <jats:italic>BRCA2<\/jats:italic>\n                    gene has medical and psychological consequences for both, affected mutation carriers and their relatives. A two-phase study with explanatory sequential mixed methods design examined the psychological impact of genetic testing and associated family communication processes. Analyzing a survey data of 79 carriers of a\n                    <jats:italic>BRCA1<\/jats:italic>\n                    or\n                    <jats:italic>BRCA2<\/jats:italic>\n                    mutation, the majority had general psychological distress independent of cancer diagnosis in the patients\u2019 history. The point prevalence of depression was 16.9%. Contrary to their subjective perception, the respondents\u2019 knowledge about those mutations was moderate. Despite the high rate of information transfer to relatives at risk (100%), their reported uptake of genetic testing was low (45.6%). Communication about the mutation detection was more frequent with female than with male relatives. In-depth focus group interviews revealed significant barriers to accessing genetic counseling including anxiety, uncertainty about the benefits of testing and about the own cancer risk, particularly among males. This study suggests that an adequate knowledge of the genetic background and psychological support is required to reduce emotional distress, to support familial communication and to facilitate genetic testing.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-98737-8","type":"journal-article","created":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T06:18:43Z","timestamp":1633933123000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design"],"prefix":"10.1038","volume":"11","author":[{"given":"Chiara L.","family":"Blomen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aliaksandra","family":"Pott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander E.","family":"Volk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Bud\u00e4us","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8734-4521","authenticated-orcid":false,"given":"Isabell","family":"Witzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,11]]},"reference":[{"issue":"3","key":"98737_CR1","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1111\/tbj.13257","volume":"25","author":"K Rhiem","year":"2019","unstructured":"Rhiem, K. et al. Benchmarking of a checklist for the identification of familial risk for breast and ovarian cancers in a prospective cohort. Breast J. 25(3), 455\u2013460 (2019).","journal-title":"Breast J."},{"issue":"5","key":"98737_CR2","doi-asserted-by":"publisher","first-page":"5741","DOI":"10.1002\/jcp.27464","volume":"234","author":"M Mahdavi","year":"2019","unstructured":"Mahdavi, M. et al. Hereditary breast cancer: Genetic penetrance and current status with BRCA. J. Cell Physiol. 234(5), 5741\u20135750 (2019).","journal-title":"J. Cell Physiol."},{"issue":"4","key":"98737_CR3","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1055\/a-1110-0909","volume":"80","author":"B Wappenschmidt","year":"2020","unstructured":"Wappenschmidt, B. et al. Criteria of the German Consortium for hereditary breast and ovarian cancer for the classification of germline sequence variants in risk genes for hereditary breast and ovarian cancer. Geburtshilfe Frauenheilkd. 80(4), 410\u2013429 (2020).","journal-title":"Geburtshilfe Frauenheilkd."},{"issue":"10","key":"98737_CR4","doi-asserted-by":"publisher","first-page":"3647","DOI":"10.1007\/s00520-019-04918-7","volume":"27","author":"L Lombardi","year":"2019","unstructured":"Lombardi, L. et al. Psychological aspects, risk and protective factors related to BRCA genetic testing: A review of the literature. Support. Care Cancer. 27(10), 3647\u20133656 (2019).","journal-title":"Support. Care Cancer."},{"issue":"2","key":"98737_CR5","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1038\/s41416-020-0861-3","volume":"123","author":"KA Metcalfe","year":"2020","unstructured":"Metcalfe, K. A. et al. Predictors of long-term cancer-related distress among female BRCA1 and BRCA2 mutation carriers without a cancer diagnosis: An international analysis. Br. J. Cancer 123(2), 268\u2013274 (2020).","journal-title":"Br. J. Cancer"},{"issue":"5","key":"98737_CR6","doi-asserted-by":"publisher","first-page":"741","DOI":"10.3390\/genes12050741","volume":"12","author":"H Brand","year":"2021","unstructured":"Brand, H., Speiser, D., Besch, L., Roseman, J. & Kendel, F. Making sense of a health threat: Illness representations, coping, and psychological distress among BRCA1\/2 mutation carriers. Genes (Basel) 12(5), 741 (2021).","journal-title":"Genes (Basel)"},{"issue":"4","key":"98737_CR7","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1016\/j.pec.2020.12.019","volume":"104","author":"M Dean","year":"2021","unstructured":"Dean, M. et al. Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers. Patient Educ. Couns. 104(4), 720\u2013725 (2021).","journal-title":"Patient Educ. Couns."},{"issue":"2","key":"98737_CR8","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1038\/s41431-020-00723-7","volume":"29","author":"ML Di Pietro","year":"2021","unstructured":"Di Pietro, M. L. et al. Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: Towards a personalised approach. Eur. J. Hum. Genet. 29(2), 250\u2013261 (2021).","journal-title":"Eur. J. Hum. Genet."},{"issue":"9","key":"98737_CR9","doi-asserted-by":"publisher","first-page":"2211","DOI":"10.1158\/1055-9965.EPI-10-0325","volume":"19","author":"EL Cheung","year":"2010","unstructured":"Cheung, E. L., Olson, A. D., Yu, T. M., Han, P. Z. & Beattie, M. S. Communication of BRCA results and family testing in 1103 high-risk women. Cancer Epidemiol. Biomark. Prev. 19(9), 2211\u20132219 (2010).","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"issue":"3","key":"98737_CR10","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1002\/jgc4.1360","volume":"30","author":"DS Lee","year":"2021","unstructured":"Lee, D. S. et al. Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting. J. Genet. Couns. 30(3), 720\u2013729 (2021).","journal-title":"J. Genet. Couns."},{"issue":"12","key":"98737_CR11","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1038\/gim.2017.52","volume":"19","author":"E Healey","year":"2017","unstructured":"Healey, E. et al. Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families. Genet. Med. 19(12), 1323\u20131331 (2017).","journal-title":"Genet. Med."},{"issue":"6","key":"98737_CR12","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1097\/01.GIM.0000144014.91237.A1","volume":"6","author":"B McGivern","year":"2004","unstructured":"McGivern, B. et al. Family communication about positive BRCA1 and BRCA2 genetic test results. Genet. Med. 6(6), 503\u2013509 (2004).","journal-title":"Genet. Med."},{"issue":"4","key":"98737_CR13","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1200\/JCO.2005.01.7541","volume":"24","author":"AF Patenaude","year":"2006","unstructured":"Patenaude, A. F. et al. Sharing BRCA1\/2 test results with first-degree relatives: Factors predicting who women tell. J. Clin. Oncol. 24(4), 700\u2013706 (2006).","journal-title":"J. Clin. Oncol."},{"issue":"12","key":"98737_CR14","doi-asserted-by":"publisher","first-page":"1772","DOI":"10.1158\/1055-9965.EPI-17-0389","volume":"26","author":"LE Steffen","year":"2017","unstructured":"Steffen, L. E. et al. Genetic testing in a population-based sample of breast and ovarian cancer survivors from the REACH randomized trial: Cost barriers and moderators of counseling mode. Cancer Epidemiol. Biomark. Prev. 26(12), 1772\u20131780 (2017).","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"98737_CR15","volume-title":"Designing and Conducting Mixed Methods Research","author":"J Creswell","year":"2007","unstructured":"Creswell, J. & Plano, C. V. Designing and Conducting Mixed Methods Research (Sage Publications, 2007)."},{"issue":"3","key":"98737_CR16","first-page":"213","volume":"54","author":"A Mehnert","year":"2006","unstructured":"Mehnert, A., M\u00fcller, D., Lehmann, C. & Koch, U. Die deutsche version des NCCN distress-thermometers: Empirische Pr\u00fcfung eines screening-instruments zur Erfassung psychosozialer Belastung bei Krebspatienten. Z. Psychiatr. Psychol. Psychother. 54(3), 213\u2013223 (2006).","journal-title":"Z. Psychiatr. Psychol. Psychother."},{"issue":"9","key":"98737_CR17","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1046\/j.1525-1497.2001.016009606.x","volume":"16","author":"K Kroenke","year":"2001","unstructured":"Kroenke, K., Spitzer, R. L. & Williams, J. B. The PHQ-9: Validity of a brief depression severity measure. J. Gen. Intern. Med. 16(9), 606\u2013613 (2001).","journal-title":"J. Gen. Intern. Med."},{"issue":"10","key":"98737_CR18","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1001\/archinte.166.10.1092","volume":"166","author":"RL Spitzer","year":"2006","unstructured":"Spitzer, R. L., Kroenke, K., Williams, J. B. & Lowe, B. A brief measure for assessing generalized anxiety disorder: The GAD-7. Arch. Intern. Med. 166(10), 1092\u20131097 (2006).","journal-title":"Arch. Intern. Med."},{"issue":"3","key":"98737_CR19","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1007\/s001030050034","volume":"43","author":"M Bullinger","year":"2000","unstructured":"Bullinger, M. Erfassung der gesundheitsbezogenen Lebensqualit\u00e4t mit dem SF-36-Health Survey. Bundesgesundh. Gesundh. Gesundh. 43(3), 190\u2013197 (2000).","journal-title":"Bundesgesundh. Gesundh. Gesundh."},{"issue":"1\u20132","key":"98737_CR20","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S0738-3991(97)00067-0","volume":"32","author":"EM Bleiker","year":"1997","unstructured":"Bleiker, E. M. et al. Genetic counseling for hereditary cancer: A pilot study on experiences of patients and family members. Patient Educ. Couns. 32(1\u20132), 107\u2013116 (1997).","journal-title":"Patient Educ. Couns."},{"issue":"1","key":"98737_CR21","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1177\/0272989X9601600114","volume":"16","author":"M Holmes-Rovner","year":"1996","unstructured":"Holmes-Rovner, M. et al. Patient satisfaction with health care decisions: The satisfaction with decision scale. Med. Decis. Making 16(1), 58\u201364 (1996).","journal-title":"Med. Decis. Making"},{"issue":"3","key":"98737_CR22","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1097\/00006842-197905000-00004","volume":"41","author":"M Horowitz","year":"1979","unstructured":"Horowitz, M., Wilner, N. & Alvarez, W. Impact of event scale: A measure of subjective stress. Psychosom. Med. 41(3), 209\u2013218 (1979).","journal-title":"Psychosom. Med."},{"issue":"2","key":"98737_CR23","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1016\/j.pec.2004.02.007","volume":"56","author":"J Erblich","year":"2005","unstructured":"Erblich, J. et al. Development and validation of a breast cancer genetic counseling knowledge questionnaire. Patient Educ. Couns. 56(2), 182\u2013191 (2005).","journal-title":"Patient Educ. Couns."},{"key":"98737_CR24","first-page":"209","volume-title":"Qualitative Inhaltsanalyse. Handbuch Qualitative Forschung: Grundlagen, Konzepte, Methoden und Anwendungen","author":"P Mayring","year":"1991","unstructured":"Mayring, P. Qualitative Inhaltsanalyse. Handbuch Qualitative Forschung: Grundlagen, Konzepte, Methoden und Anwendungen 209\u2013213 (Beltz Psychologie, 1991)."},{"key":"98737_CR25","volume-title":"SF-36 Fragebogen zum Gesundheitszu\u00adstand: Deutsche Version des Short Form-36 Health Survey","author":"M Morfeld","year":"2011","unstructured":"Morfeld, M., Kirchberger, I. & Bullinger, M. SF-36 Fragebogen zum Gesundheitszu\u00adstand: Deutsche Version des Short Form-36 Health Survey 2nd edn. (Hogrefe, 2011).","edition":"2"},{"issue":"15","key":"98737_CR26","doi-asserted-by":"publisher","first-page":"2025","DOI":"10.1016\/S0959-8049(02)00264-2","volume":"38","author":"B Meiser","year":"2002","unstructured":"Meiser, B. et al. Psychological impact of genetic testing in women from high-risk breast cancer families. Eur. J. Cancer 38(15), 2025\u20132031 (2002).","journal-title":"Eur. J. Cancer"},{"issue":"4","key":"98737_CR27","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1081\/CNV-120022380","volume":"21","author":"JV Pasacreta","year":"2003","unstructured":"Pasacreta, J. V. Psychosocial issues associated with genetic testing for breast and ovarian cancer risk: An integrative review. Cancer Investig. 21(4), 588\u2013623 (2003).","journal-title":"Cancer Investig."},{"issue":"5","key":"98737_CR28","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/S2215-0366(14)70313-X","volume":"1","author":"J Walker","year":"2014","unstructured":"Walker, J. et al. Prevalence, associations, and adequacy of treatment of major depression in patients with cancer: A cross-sectional analysis of routinely collected clinical data. Lancet Psychiatry 1(5), 343\u2013350 (2014).","journal-title":"Lancet Psychiatry"},{"key":"98737_CR29","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/s13053-017-0077-6","volume":"15","author":"S Mella","year":"2017","unstructured":"Mella, S., Muzzatti, B., Dolcetti, R. & Annunziata, M. A. Emotional impact on the results of BRCA1 and BRCA2 genetic test: An observational retrospective study. Hered. Cancer Clin. Pract. 15, 16 (2017).","journal-title":"Hered. Cancer Clin. Pract."},{"key":"98737_CR30","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.breast.2016.10.024","volume":"31","author":"A Bredart","year":"2017","unstructured":"Bredart, A. et al. Effect on perceived control and psychological distress of genetic knowledge in women with breast cancer receiving a BRCA1\/2 test result. Breast 31, 121\u2013127 (2017).","journal-title":"Breast"},{"issue":"24","key":"98737_CR31","doi-asserted-by":"publisher","first-page":"1885","DOI":"10.1001\/jama.1996.03530480027036","volume":"275","author":"C Lerman","year":"1996","unstructured":"Lerman, C. et al. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA 275(24), 1885\u20131892 (1996).","journal-title":"JAMA"},{"issue":"6","key":"98737_CR32","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1007\/s10897-017-0125-4","volume":"26","author":"AL Young","year":"2017","unstructured":"Young, A. L. et al. Family communication, risk perception and cancer knowledge of young adults from BRCA1\/2 families: A systematic review. J. Genet. Couns. 26(6), 1179\u20131196 (2017).","journal-title":"J. Genet. Couns."},{"issue":"1","key":"98737_CR33","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1089\/gte.2007.0037","volume":"12","author":"E Finlay","year":"2008","unstructured":"Finlay, E. et al. Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1\/2 mutations. Genet. Test. 12(1), 81\u201391 (2008).","journal-title":"Genet. Test."},{"issue":"3","key":"98737_CR34","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1002\/cncr.28879","volume":"121","author":"AM Hirschberg","year":"2015","unstructured":"Hirschberg, A. M., Chan-Smutko, G. & Pirl, W. F. Psychiatric implications of cancer genetic testing. Cancer 121(3), 341\u2013360 (2015).","journal-title":"Cancer"},{"key":"98737_CR35","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00890-1","author":"KS Finn","year":"2021","unstructured":"Finn, K. S., Pacyna, J., Azevedo Tsou, C., Jewel Samadder, N. & Sharp, R. Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members. Eur. J. Hum. Genet. https:\/\/doi.org\/10.1038\/s41431-021-00890-1 (2021).","journal-title":"Eur. J. Hum. Genet."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-98737-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-98737-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-98737-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,3]],"date-time":"2022-12-03T11:25:24Z","timestamp":1670066724000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-98737-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,11]]},"references-count":35,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["98737"],"URL":"https:\/\/doi.org\/10.1038\/s41598-021-98737-8","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,11]]},"assertion":[{"value":"4 April 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 September 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 October 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"I.W. has no conflict of interest concerning the presented analysis, she received speaker\u2019s honoraria outside this work from Amgen, Astra Zeneca, MSD, Novartis, Pierre Fabre Pharme, Pfizer, Roche, Sanofi-Aventis. All other\u00a0authors\u00a0declare that they have no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"20178"}}