Evaluation of BRCAPRO Risk Assessment Model in Patients with Ductal Carcinoma In situ Who Underwent Clinical BRCA Genetic Testing
Autor: | Nisreen eElsayegh, Angelica M. Gutierrez Barrera, Kimberly I. Muse, Heather eLin, Henry M Kuerer, Monica eHelm, Jennifer K. Litton, Banu K. Arun |
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Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty lcsh:QH426-470 endocrine system diseases BRCA mutation status 03 medical and health sciences 0302 clinical medicine Breast cancer Internal medicine Ductal carcinoma in situ (DCIS) medicine In patient genetics skin and connective tissue diseases gene genes neoplasms Genetics (clinical) Genetic testing Original Research BRCAPRO medicine.diagnostic_test business.industry BRCA mutation Cancer Ductal carcinoma medicine.disease BRCA1 BRC body regions lcsh:Genetics 030104 developmental biology ductal carcinoma in situ (DCIS) 030220 oncology & carcinogenesis Molecular Medicine business Risk assessment |
Zdroj: | Frontiers in Genetics Frontiers in Genetics, Vol 7 (2016) |
ISSN: | 1664-8021 |
DOI: | 10.3389/fgene.2016.00071 |
Popis: | The authors retrospectively aimed to determine which of the following three scenarios, related to DCIS entry into BRCAPRO, predicted BRCA mutation status more accurately: (1) DCIS as an invasive breast cancer (IBC) entered using the actual age of diagnosis, (2) DCIS as IBC entered with 10 years added to the actual age of diagnosis, and (3) DCIS entered as no cancer. Of the 85 DCIS patients included in the study, 19% (n = 16) tested positive for a BRCA mutation, and 81% (n = 69) tested negative. DCIS patients who tested positive for a BRCA mutation had a higher BRCAPRO risk estimation (34.61%) than patients who tested negative (11.4%) when DCIS was entered at the actual age of diagnosis. When DCIS was entered with 10 years added to the actual age at diagnosis, the BRCAPRO estimate was still higher amongst BRCA positive patients (25.4%) than BRCA negative patients (7.1%). When DCIS was entered as no cancer, the BRCAPRO estimate remained higher among BRCA positive patients (2.56%) than BRCA negative patents (1.98%). In terms of accuracy of BRCA positivity, there was no statistically significant difference between DCIS at age at diagnosis, DCIS at 10 years later than age at diagnosis, and DCIS entered as no cancer (AUC = 0.77, 0.784, 0.75, respectively: p = 0.60). Our results indicate that regardless of entry approach into BRCAPRO, there were no significant differences in predicting BRCA mutation in patients with DCIS. |
Databáze: | OpenAIRE |
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