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@ARTICLE{Arif:301508,
      author       = {S. Arif and N. Muhammad and B. H. Ang and H. Naeemi and W.
                      Sami and W. K. Ho and U. Hamann$^*$ and M. U. Rashid},
      title        = {{P}redicting the likelihood of carrying {BRCA}1 or {BRCA}2
                      pathogenic variants in high-risk {P}akistani breast cancer
                      patients.},
      journal      = {Breast cancer research and treatment},
      volume       = {212},
      number       = {2},
      issn         = {0167-6806},
      address      = {Dordrecht [u.a.]},
      publisher    = {Springer Science + Business Media B.V.},
      reportid     = {DKFZ-2025-01047},
      pages        = {291-298},
      year         = {2025},
      note         = {2025 Jul;212(2):291-298},
      abstract     = {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 $(21.2\%)$ were BRCA1 carriers, 25
                      $(4.0\%)$ were BRCA2 carriers, and 469 $(74.8\%)$ were
                      non-carriers. The mean age at BC diagnosis was 34.3 years
                      (range 19-73). Overall, ARiCa showed well calibration for
                      predicting BRCA1/2 (HL 12.11, P = 0.147), BRCA1 (HL 14.17, P
                      = 0.078), and BRCA2 carriers (HL 9.01, P = 0.342). The tool
                      showed acceptable discrimination for BRCA1/2 (AUC 0.77,
                      $95\%$ CI 0.72-0.81) and BRCA1 carriers (AUC 0.80, $95\%$ CI
                      0.75-0.84), but lower discrimination for BRCA2 carriers (AUC
                      0.51, $95\%$ CI 0.39-0.64). At a $21\%$ threshold, ARiCa
                      would recommend BRCA1/2 screening for $43\%$ of patients,
                      with sensitivity and specificity at $73\%$ and $68\%,$
                      respectively.The ARiCa tool demonstrates strong predictive
                      performance for BRCA1/2 carriers, specifically for BRCA1
                      carriers in Pakistani BC patients, suggesting its potential
                      clinical utility.},
      keywords     = {Asian Risk Calculator (ARiCa) (Other) / Breast cancer
                      (Other) / Pakistan (Other) / Risk prediction tool (Other)},
      cin          = {B072},
      ddc          = {610},
      cid          = {I:(DE-He78)B072-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40392478},
      doi          = {10.1007/s10549-025-07724-4},
      url          = {https://inrepo02.dkfz.de/record/301508},
}