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@ARTICLE{Deugd:303196,
      author       = {R. d. Deugd and J. C. Riano and E. de Vries and A. F.
                      Cardona and J. Rodriguez and A. Fidalgo-Zapata and Y.
                      Sanchez and S. Sanchez and J. Olaya and D. de Leon and C. A.
                      Ossa and H. Reynales and P. Quintero and E. Vargas and U.
                      Hamann$^*$ and D. Torres},
      title        = {{E}stablishing the {F}irst {G}enetic {V}ariant {R}egistry
                      for {B}reast and {O}varian {C}ancer in {C}olombia:
                      {I}nsights and {I}mplications.},
      journal      = {Diseases},
      volume       = {13},
      number       = {7},
      issn         = {2079-9721},
      address      = {Basel},
      publisher    = {MDPI},
      reportid     = {DKFZ-2025-01547},
      pages        = {222},
      year         = {2025},
      abstract     = {Genetic insights from diverse populations are key to
                      advancing cancer detection, treatment, and prevention.
                      Unlike other Latin American countries, Colombia lacks a
                      centralized registry for germline and somatic mutations in
                      breast and ovarian cancer. This study describes the
                      country's first national variant registry, and the
                      occurrence of recurrent mutations and potential founder
                      effects in Colombia.To address this gap, we implemented the
                      first capturing protocol using the REDCap system. In a group
                      of 213 breast and/or ovarian cancer patients harboring
                      genetic mutations, we collected genetic, clinical, and
                      demographic data from 13 regional centers across Colombia.
                      Statistical analyses assessed variant distribution and
                      patient demographics.Among 229 identified variants (105
                      germline, 124 somatic), most were classified as pathogenic
                      or likely pathogenic $(72.4\%$ germline, $87\%$ somatic).
                      BRCA1 and BRCA2 accounted for the majority of recurrent
                      mutations. Germline recurrent variants (seen >3 times) were
                      recorded for BRCA1 $(77.7\%;$ 21/27) and BRCA2 $(22.3\%;$
                      6/27). Similarly, recurrent somatic variants were identified
                      for BRCA1 $(82.6\%;$ 38/46) and BRCA2 $(17.4\%;$ 8/46).
                      Notably, four recurrent variants were previously reported as
                      founder mutations: BRCA1 c.1674del $(14.3\%$ germline and
                      $23.7\%$ somatic), BRCA1 $c.3331_3334del$ $(33.3\%$ germline
                      and $52.6\%$ somatic), BRCA1 c.5123C>A $(52.4\%$ germline
                      and $23.7\%$ somatic), and BRCA2 $c.2808_2811del$ $(50\%$
                      germline and $50\%$ somatic). Most cases originated from the
                      Andean region, highlighting regional disparities.This
                      registry offers the first overview of genetic variants in
                      Colombian breast and ovarian cancer patients. Recurrent and
                      region-specific mutations highlight the need for
                      population-focused data to guide targeted screening and
                      personalized care strategies.},
      keywords     = {breast cancer (Other) / cancer registry (Other) /
                      cancer-associated genes (Other) / genetic variants (Other) /
                      ovarian cancer (Other) / precision medicine (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:40710012},
      doi          = {10.3390/diseases13070222},
      url          = {https://inrepo02.dkfz.de/record/303196},
}