TY - JOUR
T1 - Evaluation of BRCAPRO risk assessment model in patients with ductal carcinoma in situ who underwent clinical BRCA genetic testing
AU - Elsayegh, Nisreen
AU - Gutierrez Barrera, Angelica M.
AU - Muse, Kimberly I.
AU - Lin, Heather
AU - Kuerer, Henry M.
AU - Helm, Monica
AU - Litton, Jennifer K.
AU - Arun, Banu K.
N1 - Publisher Copyright:
© 2016 Elsayegh, Gutierrez Barrera, Muse, Lin, Kuerer, Helm, Litton and Arun.
PY - 2016/4/27
Y1 - 2016/4/27
N2 - 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.
AB - 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.
KW - BRC
KW - BRCA mutation status
KW - BRCA1
KW - BRCAPRO
KW - Ductal carcinoma in situ (DCIS)
KW - Gene
KW - Genes
KW - Genetics
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U2 - 10.3389/fgene.2016.00071
DO - 10.3389/fgene.2016.00071
M3 - Article
C2 - 27200080
AN - SCOPUS:84964854442
SN - 1664-8021
VL - 7
JO - Frontiers in Genetics
JF - Frontiers in Genetics
IS - APR
M1 - 71
ER -