Impact of Personalized Genetic Breast Cancer Risk Estimation With Polygenic Risk Scores on Preventive Endocrine Therapy Intention and Uptake
| Autor: | Christina Kim, Lonzetta Neal, Lori A. Thicke, Julian O. Kim, Debjani Grenier, Andrew Cooke, Benjamin A Goldenberg, Jason P. Sinnwell, Amy C. Degnim, Fergus J. Couch, Linda Hasadsri, Daniel J. Schaid, Sandhya Pruthi, Celine M. Vachon, Daniela L. Stan |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Counseling 0301 basic medicine Oncology Cancer Research medicine.medical_specialty Aftercare Breast Neoplasms Polymorphism Single Nucleotide Risk Assessment 03 medical and health sciences 0302 clinical medicine Breast cancer Genetic breast cancer Risk Factors Internal medicine Biomarkers Tumor Genetic predisposition medicine Humans Genetic Predisposition to Disease Genetic Testing Precision Medicine skin and connective tissue diseases Aged Estimation Aromatase Inhibitors business.industry Incidence Incidence (epidemiology) Endocrine therapy Middle Aged medicine.disease 030104 developmental biology Genetic Loci 030220 oncology & carcinogenesis Female Polygenic risk score Risk assessment business |
| Zdroj: | Cancer Prevention Research. 14:175-184 |
| ISSN: | 1940-6215 1940-6207 |
| DOI: | 10.1158/1940-6207.capr-20-0154 |
| Popis: | Endocrine therapy is underutilized to reduce breast cancer incidence among women at increased risk. Polygenic risk scores (PRSs) assessing 77 breast cancer genetic susceptibility loci personalizes risk estimates. We examined effect of personalized PRS breast cancer risk prediction on intention to take and endocrine therapy uptake among women at increased risk. Eligible participants had a 10-year breast cancer risk ≥5% by Tyrer–Cuzick model [International Breast Cancer Intervention Study (IBIS)] or ≥3.0 % 5-year Gail Model risk with no breast cancer history or hereditary breast cancer syndrome. Breast cancer risk was estimated, endocrine therapy options were discussed, and endocrine therapy intent was assessed at baseline. After genotyping, PRS-updated breast cancer risk estimates, endocrine therapy options, and intent to take endocrine therapy were reassessed; endocrine therapy uptake was assessed during follow-up. From March 2016 to October 2017, 151 patients were enrolled [median (range) age, 56.1 (36.0–76.4 years)]. Median 10-year and lifetime IBIS risks were 7.9% and 25.3%. Inclusion of PRS increased lifetime IBIS breast cancer risk estimates for 81 patients (53.6%) and reduced risk for 70 (46.4%). Of participants with increased breast cancer risk by PRS, 39 (41.9%) had greater intent to take endocrine therapy; of those with decreased breast cancer risk by PRS, 28 (46.7%) had less intent to take endocrine therapy (P < 0.001). On multivariable regression, increased breast cancer risk by PRS was associated with greater intent to take endocrine therapy (P < 0.001). Endocrine therapy uptake was greater among participants with increased breast cancer risk by PRS (53.4%) than with decreased risk (20.9%; P < 0.001). PRS testing influenced intent to take and endocrine therapy uptake. Assessing PRS effect on endocrine therapy adherence is needed.Prevention Relevance: Counseling women at increased breast cancer risk using polygenic risk score (PRS) risk estimates can significantly impact preventive endocrine therapy uptake. Further development of PRS testing to personalize breast cancer risk assessments and endocrine therapy counselling may serve to potentially reduce the incidence of breast cancer in the future. |
| Databáze: | OpenAIRE |
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