{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:41:20Z","timestamp":1787618480912,"version":"build-2736575974"},"reference-count":42,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T00:00:00Z","timestamp":1738800000000},"content-version":"unspecified","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Korean Cancer Survivors Healthcare R&D Project (National Cancer Center, Korea) by the Ministry of Health and Welfare, Republic of Korea","award":["RS-2023-CC139201(NCC-23F1850)"],"award-info":[{"award-number":["RS-2023-CC139201(NCC-23F1850)"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2025,1,13]]},"published-print":{"date-parts":[[2025,2]]},"abstract":"\n Introduction<\/jats:title>\n Although genetic testing for hereditary cancers is increasing, data on health attitudes based on genetic pathogenicity are limited. This cohort study aims to establish three subcohorts based on genetic testing results to assess the health impact of genetic variations. This study evaluates changes in participant quality of life (QoL), unmet needs and mental health over time based on their genetic variant status.<\/jats:p>\n <\/jats:sec>\n \n Methods and analysis<\/jats:title>\n This prospective cohort study will recruit 1435 patients with suspected hereditary cancer who have undergone BRCA1\/2<\/jats:italic> or next-generation sequencing (NGS) testing. The study began in July 2023 and will continue until December 2027. By 2026, participants will be surveyed up to four times annually during their outpatient visits. The survey consists of 342 items across 5 domains: comorbidities (96), health behaviours (80), QoL (41), unmet needs (75) and mental health (50). Data were collected using 11 validated surveys. In addition, information on the chronic diseases, cancer diagnoses, medical history and treatment history of participants will be extracted from their electronic medical records to analyse their health status and cancer treatment experiences. Genetic variant data from BRCA1\/2<\/jats:italic> and NGS will be used to classify participants into three subcohorts: pathogenic variants, variants of uncertain significance and undetectable mutations. A three-generation pedigree that includes details such as the year of cancer diagnosis, age at diagnosis, cancer type, survival status of family members and age at death will be constructed for each participant. The collected data will be linked to secondary sources such as cancer registries and National Health Insurance Service data to provide a comprehensive analysis of the impact of hereditary cancer on health and survival.<\/jats:p>\n <\/jats:sec>\n \n Ethics and dissemination<\/jats:title>\n The study protocol was approved by all the Ethics Committees: the National Cancer Center IRB (NCC2023-0179), the Samsung Medical Center IRB (SMC2023-09-057), the Yonsei University Health System, Severance Hospital IRB (4-2023-0627), the Hanyang University Guri Hospital IRB (GURI2023-08-021) and the Keimyung University IRB (DSMC IRB 2024-05-048). The study outcomes will be disseminated through conference presentations, peer-reviewed publications and social media.<\/jats:p>\n <\/jats:sec>\n \n Trial registration number<\/jats:title>\n KCT0009460.<\/jats:p>\n <\/jats:sec>","DOI":"10.1136\/bmjopen-2024-093905","type":"journal-article","created":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T05:30:24Z","timestamp":1738819824000},"page":"e093905","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3788-2092","authenticated-orcid":false,"given":"Jun-Kyu","family":"Kim","sequence":"first","affiliation":[{"name":"Targeted Therapy Branch, National Cancer Center, Goyang, Korea (the Republic of)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mi-Ae","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea (the Republic of)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9131-6518","authenticated-orcid":false,"given":"Jong Eun","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Hanyang University Guri Hospital, Guri, Korea (the Republic of)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongju","family":"Won","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea (the Republic of)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung-Sook","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea (the Republic of)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoung-Bo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea (the Republic of)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1902-3184","authenticated-orcid":false,"given":"Boyoung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, Hanyang University College of Medicine, Seoul, Korea (the Republic of)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sun-Young","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, National Cancer Center, Goyang, Korea (the Republic of)"},{"name":"Cancer Biomedical Science, National Cancer Center, Goyang, Korea (the Republic of)"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,2,6]]},"reference":[{"key":"2025101813423715000_15.2.e093905.1","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2023.1060504","article-title":"Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis","volume":"14","author":"Anaclerio","year":"2023","journal-title":"Front Genet"},{"key":"2025101813423715000_15.2.e093905.2","doi-asserted-by":"crossref","first-page":"16607","DOI":"10.3390\/ijms242316607","article-title":"Genetic Testing Enhances the Precision Diagnosis and Treatment of Breast Cancer","volume":"24","author":"Yang","year":"2023","journal-title":"IJMS"},{"key":"2025101813423715000_15.2.e093905.3","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.4143\/crt.2021.978","article-title":"Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1\/2 Mutation-Negative Breast Cancer","volume":"54","author":"Park","year":"2022","journal-title":"Cancer Res Treat"},{"key":"2025101813423715000_15.2.e093905.4","doi-asserted-by":"crossref","DOI":"10.3390\/genes14051025","article-title":"Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool","volume":"14","author":"Garutti","year":"2023","journal-title":"Genes (Basel)"},{"key":"2025101813423715000_15.2.e093905.5","doi-asserted-by":"crossref","DOI":"10.1186\/s12885-020-07250-0","article-title":"Screening of BRCA1\/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC)","volume":"20","author":"El Ansari","year":"2020","journal-title":"BMC Cancer"},{"key":"2025101813423715000_15.2.e093905.6","doi-asserted-by":"crossref","first-page":"970","DOI":"10.4143\/crt.2021.1078","article-title":"Reclassification of Five BRCA1\/2 Variants with Unknown Significance Using Complex Functional Study","volume":"54","author":"Bozsik","year":"2022","journal-title":"Cancer Res Treat"},{"key":"2025101813423715000_15.2.e093905.7","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2023.39571","article-title":"Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing","volume":"6","author":"Chen","year":"2023","journal-title":"JAMA Netw Open"},{"key":"2025101813423715000_15.2.e093905.8","doi-asserted-by":"crossref","first-page":"811602","DOI":"10.3389\/fpsyg.2021.811602","article-title":"Editorial: Uncertainty, Anxiety, and Fear of Cancer Recurrence","volume":"12","author":"Butow","year":"2021","journal-title":"Front Psychol"},{"key":"2025101813423715000_15.2.e093905.9","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/jgc4.1374","article-title":"Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors","volume":"30","author":"Berliner","year":"2021","journal-title":"J Genet Couns"},{"key":"2025101813423715000_15.2.e093905.10","doi-asserted-by":"crossref","DOI":"10.1186\/s13058-017-0826-5","article-title":"Decision making for breast cancer prevention among women at elevated risk","volume":"19","author":"Padamsee","year":"2017","journal-title":"Breast Cancer Res"},{"key":"2025101813423715000_15.2.e093905.11","doi-asserted-by":"crossref","DOI":"10.3802\/jgo.2019.30.e60","article-title":"The influence of BRCA variants of unknown significance on cancer risk management decision-making","volume":"30","author":"Chern","year":"2019","journal-title":"J Gynecol Oncol"},{"key":"2025101813423715000_15.2.e093905.12","doi-asserted-by":"crossref","first-page":"103626","DOI":"10.1016\/j.critrevonc.2022.103626","article-title":"BRCA1\/2 variants of unknown significance in hereditary breast and ovarian cancer (HBOC) syndrome: Looking for the hidden meaning","volume":"172","author":"Fanale","year":"2022","journal-title":"Crit Rev Oncol Hematol"},{"key":"2025101813423715000_15.2.e093905.13","doi-asserted-by":"crossref","DOI":"10.3390\/genes14020341","article-title":"Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico","volume":"14","author":"P\u00e9rez-Ibave","year":"2023","journal-title":"Genes (Basel)"},{"key":"2025101813423715000_15.2.e093905.14","doi-asserted-by":"crossref","DOI":"10.1186\/s12920-022-01270-4","article-title":"How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?","volume":"15","author":"Kwong","year":"2022","journal-title":"BMC Med Genomics"},{"key":"2025101813423715000_15.2.e093905.15","doi-asserted-by":"crossref","first-page":"13701","DOI":"10.1002\/cam4.5999","article-title":"Distress, anxiety, and depression in persons with hereditary cancer syndromes: Results from a nationwide cross-sectional study in Germany","volume":"12","author":"Kastner","year":"2023","journal-title":"Cancer Med"},{"key":"2025101813423715000_15.2.e093905.16","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s11136-005-3008-3","article-title":"Quality of life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation","volume":"15","author":"Geirdal","year":"2006","journal-title":"Qual Life Res"},{"key":"2025101813423715000_15.2.e093905.17","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s10689-012-9596-5","article-title":"Unmet support needs and distress among women with a BRCA1\/2 mutation","volume":"12","author":"Farrelly","year":"2013","journal-title":"Fam Cancer"},{"key":"2025101813423715000_15.2.e093905.18","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0158531","article-title":"Quality of Life and Psychological State in Chinese Breast Cancer Patients Who Received BRCA1\/2 Genetic Testing","volume":"11","author":"Qiu","year":"2016","journal-title":"PLoS One"},{"key":"2025101813423715000_15.2.e093905.19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.5734\/JGM.2010.7.1.67","article-title":"Evaluation of Psychosocial Impact and Quality of Life in BRCA Mutation Families; Self-Concept and Psychosocial Well-Being among Korean Women with BRCA1\/2 Gene Mutation","volume":"7","author":"Han","year":"2010","journal-title":"J Genet Med"},{"key":"2025101813423715000_15.2.e093905.20","doi-asserted-by":"crossref","first-page":"5601","DOI":"10.3390\/cancers15235601","article-title":"Precision Healthcare and Interventions in Hereditary Breast and Ovarian Cancer and Lynch Syndrome","volume":"15","author":"Katapodi","year":"2023","journal-title":"Cancers (Basel)"},{"key":"2025101813423715000_15.2.e093905.21","unstructured":"Cancer genetics risk assessment and counseling (PDQ(R)): health professional version. Bethesda (MD),"},{"key":"2025101813423715000_15.2.e093905.22","doi-asserted-by":"publisher","DOI":"10.1093\/jjco\/hyu190"},{"key":"2025101813423715000_15.2.e093905.23","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025101813423715000_15.2.e093905.24","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2020-048488","article-title":"What role do patients prefer in medical decision-making?: a population-based nationwide cross-sectional study","volume":"11","author":"Greg\u00f3rio","year":"2021","journal-title":"BMJ Open"},{"key":"2025101813423715000_15.2.e093905.25","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyt228"},{"key":"2025101813423715000_15.2.e093905.26","first-page":"21","article-title":"The Relationship between Physical Activity and Health-Related Quality of Life in Korean Adults: The Eighth Korea National Health and Nutrition Examination Survey","volume":"11","author":"Jun","year":"2023","journal-title":"Healthcare (Basel)"},{"key":"2025101813423715000_15.2.e093905.27","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1007\/s11136-015-1205-2","article-title":"The EQ-5D-5L valuation study in Korea","volume":"25","author":"Kim","year":"2016","journal-title":"Qual Life Res"},{"key":"2025101813423715000_15.2.e093905.28","doi-asserted-by":"publisher","DOI":"10.1023\/B:QURE.0000021692.81214.70"},{"key":"2025101813423715000_15.2.e093905.29","doi-asserted-by":"publisher","DOI":"10.1007\/s00520-010-1037-0"},{"key":"2025101813423715000_15.2.e093905.30","doi-asserted-by":"crossref","first-page":"101708","DOI":"10.1016\/j.ejon.2019.101708","article-title":"Cancer-specific distress, supportive care needs and satisfaction with psychosocial care in young adult cancer survivors","volume":"44","author":"Sender","year":"2020","journal-title":"Eur J Oncol Nurs"},{"key":"2025101813423715000_15.2.e093905.31","doi-asserted-by":"crossref","first-page":"853","DOI":"10.30773\/pi.2023.0100","article-title":"Validation of the Patient Health Questionnaire-9 and Patient Health Questionnaire-2 in the General Korean Population","volume":"20","author":"Kim","year":"2023","journal-title":"Psychiatry Investig"},{"key":"2025101813423715000_15.2.e093905.32","doi-asserted-by":"crossref","DOI":"10.3346\/jkms.2023.38.e41","article-title":"Reliability and Validity of the Korean Version of the Ask Suicide-Screening Questions (ASQ)","volume":"38","author":"Kim","year":"2023","journal-title":"J Korean Med Sci"},{"key":"2025101813423715000_15.2.e093905.33","doi-asserted-by":"crossref","DOI":"10.3389\/fpsyt.2019.00127","article-title":"The Psychometric Properties and Clinical Utility of the Korean Version of GAD-7 and GAD-2","volume":"10","author":"Ahn","year":"2019","journal-title":"Front Psychiatry"},{"key":"2025101813423715000_15.2.e093905.34","doi-asserted-by":"crossref","first-page":"204","DOI":"10.4143\/crt.2017.091","article-title":"Validation of the Korean Version of the Quality of Life-Cancer Survivors (QOL-CS-K) Questionnaire in Lymphoma Survivors","volume":"50","author":"Cho","year":"2018","journal-title":"Cancer Res Treat"},{"key":"2025101813423715000_15.2.e093905.35","doi-asserted-by":"crossref","first-page":"113","DOI":"10.4103\/0974-777X.212583","article-title":"Transcultural Adaptation and Validation of the Korean Version of the Brief Illness Perception Questionnaire for Patients with Pulmonary Tuberculosis","volume":"9","author":"Min","year":"2017","journal-title":"J Glob Infect Dis"},{"key":"2025101813423715000_15.2.e093905.36","doi-asserted-by":"crossref","DOI":"10.1186\/s12885-019-5765-3","article-title":"Comprehensive mutation detection of BRCA1\/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women","volume":"19","author":"Cao","year":"2019","journal-title":"BMC Cancer"},{"key":"2025101813423715000_15.2.e093905.37","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0213746","article-title":"Discoveries beyond BRCA1\/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world","volume":"14","author":"Ow","year":"2019","journal-title":"PLoS One"},{"key":"2025101813423715000_15.2.e093905.38","doi-asserted-by":"crossref","first-page":"98","DOI":"10.3892\/mco.2017.1260","article-title":"Current condition of genetic medicine for hereditary breast cancer","volume":"7","author":"Terui-Kohbata","year":"2017","journal-title":"Mol Clin Oncol"},{"key":"2025101813423715000_15.2.e093905.39","doi-asserted-by":"crossref","DOI":"10.1186\/s12885-023-11788-0","article-title":"Correction: How should the healthcare system support cancer survivors? Survivors\u2019 and health professionals\u2019 expectations and perception on comprehensive cancer survivorship care in Korea: a qualitative study","volume":"24","author":"Lee","year":"2024","journal-title":"BMC Cancer"},{"key":"2025101813423715000_15.2.e093905.40","unstructured":"Society, K.B.C . 10th korean breast cancer treatment guidelines. 2023."},{"key":"2025101813423715000_15.2.e093905.41","unstructured":"National Comprehensive Cancer Network . NCCN guidelines for genetic\/familial high-risk assessment: breast and ovarian. 2024."},{"key":"2025101813423715000_15.2.e093905.42","unstructured":"National Institute for Health and Care Excellence . Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer. 2024. Available: https:\/\/www.nice.org.uk\/guidance\/cg164\/chapter\/recommendations"}],"updated-by":[{"DOI":"10.1136\/bmjopen-2024-093905corr1","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,3,26]],"date-time":"2025-03-26T00:00:00Z","timestamp":1742947200000}}],"container-title":["BMJ Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bmjopen-2024-093905","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T20:42:50Z","timestamp":1760820170000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmjopen.bmj.com\/lookup\/doi\/10.1136\/bmjopen-2024-093905"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":42,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,2,6]]},"published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1136\/bmjopen-2024-093905"],"URL":"https:\/\/doi.org\/10.1136\/bmjopen-2024-093905","relation":{"correction":[{"id-type":"doi","id":"10.1136\/bmjopen-2024-093905corr1","asserted-by":"object"}]},"ISSN":["2044-6055","2044-6055"],"issn-type":[{"value":"2044-6055","type":"print"},{"value":"2044-6055","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2]]}}}