Access to breast/ovarian genetic testing: 20 years of a multidisciplinary program
| العنوان: | Access to breast/ovarian genetic testing: 20 years of a multidisciplinary program |
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| المؤلفون: | P. Machado, Juliette Dupont, Ana Clara, Fátima Vaz, F. Rodrigues, Pedro Louro, S. Santos, S. Bento, I. Miguel, Paula Rodrigues, Pedro Teixeira, A. Luís, I. Coelho, S. Fragoso, Rosario Sepulveda, T. Duarte, J. Parreira |
| المصدر: | Journal of Clinical Oncology. 38:e14015-e14015 |
| بيانات النشر: | American Society of Clinical Oncology (ASCO), 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Cancer Research, medicine.medical_specialty, Oncology, medicine.diagnostic_test, Multidisciplinary approach, business.industry, Family medicine, medicine, Ethical review, business, Ovarian cancer, medicine.disease, Genetic testing |
| الوصف: | e14015 Background: After institutional and ethical review, a multidisciplinary Breast/Ovarian Cancer Family Risk program started in January 2000. Core team included medical oncologists, molecular biologists, medical geneticists and specialized nurses. Besides access to genetic testing (GT), predictive risk analysis and tailored surveillance plans were provided for women without criteria for GT, and carriers of germline pathogenic/likely pathogenic variants (PV/LPV) were included in prospective follow up. Methods: Descriptive statistics concerning patients (pts), medical visits and genetic tests performed under the program from January 2000-December 2019. Results:A total of 28400 medical appointments (including multidisciplinary meetings with radiology, breast and plastic surgery and gynecology) were performed for 10100 pts: 9281 women (92%) and 819 men (8%), with an average of 46,0 years (45,6 and 51,1 respectively). Most pts were referred from our cancer center or were invited for cascade testing (8044, 79,6%), although we accepted referrals from external health services (2056 pts). GT: 5665 tests performed (4454 for index pts (IP) and 1211 for family relatives); 3170 (71%) IP consented only in BRCA1/2 and 1284 IP (29%) in sequential/panel testing. Detection rate for IP testing was 12,5% [440 BRCA1/2; 118 Other Hereditary Syndromes (OSH)]. OHS IP: CHEK2(32), ATM(14), TP53(11), MUTYH(12), PALB2(10), RAD51D(10), RAD51C(9), BLM(5), BRIP1(4), RAD50 (4), PTEN(2), MSH2(2), MLH1(1) FAM175A(1), BARD1(1). Six- hundred and twenty-six IP with previous inconclusive results consented on panel testing and 62(9,9%) were diagnosed with a non- BRCA1/2 PV/LPV. Until June 2019, 915 BRCA1/2 pts were included in a registry for prospective follow up. Conclusions: our program has allowed for access to Breast/Ovarian GT and risk management in the National Health Service, for the past 20 years. Twenty per cent of all pts are referrals from external health services. The ever increasing challenges to the resources of the program include: new indications for GT, the increase in priority pts for GT due to more therapy options, risk dynamics in previous registered families, evolving molecular methodologies and the management of families with complex genetic variants. The growing number of pts, including men, led to a recent change in the label of the program (Breast/Ovarian/Prostate Cancer Family Risk) and new approaches to promote access of specific populations to GT (like telegenetics) are being tested. |
| تدمد: | 1527-7755 0732-183X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::4f1220cb84ce2e3d7962eda7eda94a1aTest https://doi.org/10.1200/jco.2020.38.15_suppl.e14015Test |
| رقم الانضمام: | edsair.doi...........4f1220cb84ce2e3d7962eda7eda94a1a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15277755 0732183X |
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