TY - JOUR
AU - Arif, Shumaila
AU - Muhammad, Noor
AU - Ang, Boon Hong
AU - Naeemi, Humaira
AU - Sami, Waqas
AU - Ho, Weang Kee
AU - Hamann, Ute
AU - Rashid, Muhammad Usman
TI - Predicting the likelihood of carrying BRCA1 or BRCA2 pathogenic variants in high-risk Pakistani breast cancer patients.
JO - Breast cancer research and treatment
VL - 212
IS - 2
SN - 0167-6806
CY - Dordrecht [u.a.]
PB - Springer Science + Business Media B.V.
M1 - DKFZ-2025-01047
SP - 291-298
PY - 2025
N1 - 2025 Jul;212(2):291-298
AB - Pathogenic variants (PVs) in BRCA1/2 increase the lifetime risk of breast cancer (BC). Predictive algorithms for BRCA1/2 PVs, primarily developed for Caucasian BC patients, often underestimate carrier probability in Asian populations. The recently developed Asian Risk Calculator (ARiCa) aims to predict BRCA1/2 PV likelihood in Malaysian/Singaporean BC patients. This study investigates the ARiCa's performance in Pakistani female BC patients.A cohort of 627 high-risk Pakistani female BC patients was evaluated. Using ARiCa, the likelihood of being a BRCA1/2 carrier was estimated based on factors such as age at diagnosis, ethnicity, bilateral BC status, tumor histopathological features, and family history of BC or ovarian cancer. The tool's discriminative ability was evaluated using the area under the curve (AUC).Of the participants, 133 (21.2
KW - Asian Risk Calculator (ARiCa) (Other)
KW - Breast cancer (Other)
KW - Pakistan (Other)
KW - Risk prediction tool (Other)
LB - PUB:(DE-HGF)16
C6 - pmid:40392478
DO - DOI:10.1007/s10549-025-07724-4
UR - https://inrepo02.dkfz.de/record/301508
ER -