Genetic testing in women with early-onset breast cancer: a Traceback pilot study
| Autor: | Håkan Olsson, Ulf Kristoffersson, Hans Ehrencrona, Carolina Ellberg, Annelie Augustinsson, Martin P. Nilsson |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Cancer Research
medicine.medical_specialty Genetic testing Genetic counseling PALB2 Breast Neoplasms Pilot Projects Breast cancer Humans Medicine Genetic Predisposition to Disease CHEK2 Germ-Line Mutation Retrospective Studies BRCA2 Protein Early-onset medicine.diagnostic_test BRCA1 Protein business.industry Telephone call Cancer BRCA1 medicine.disease Clinical Trial BRCA2 Test (assessment) Oncology Family medicine Female business |
| Zdroj: | Breast Cancer Research and Treatment |
| ISSN: | 1573-7217 0167-6806 |
| DOI: | 10.1007/s10549-021-06351-z |
| Popis: | Purpose In Sweden, a Traceback approach, i.e., a retrospective genetic outreach activity, among cancer patients is not normally used in clinical practice. In this pilot study, we wanted to evaluate a Traceback strategy for possible future clinical implementation and investigate why not all women with early-onset breast cancer underwent genetic testing when they were first diagnosed. Methods Out of all women (n = 409) diagnosed with breast cancer at ≤ 35 years in Southern Sweden between 2000 and 2017, 63 had not previously been tested. These women were offered an analysis of the genes BRCA1, BRCA2, PALB2, CHEK2, and ATM through a standardized letter. Subsequently, women with normal test results were informed through a letter and carriers of pathogenic variants were contacted through a telephone call and offered in-person genetic counseling. All tested women were asked to complete a follow-up questionnaire regarding previously not having attended genetic counseling and testing and their experiences of the current retrospective approach. Results Out of the invited women, 29 (46%) underwent genetic testing and 27 (43%) answered the questionnaire. Pathogenic variants were identified in BRCA1 (n = 2), CHEK2 (n = 1), and ATM (n = 1). The main reason for previously not having undergone genetic testing was not having received any information from their physicians. Most study participants were satisfied with both written pre- and post-test information. Conclusion The process with retrospective identification, written pre-test information, and genetic testing, followed by in-person counseling for carriers of pathogenic variants only, was well accepted. This has implications for future Traceback implementation programs. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink