TY  - JOUR
AU  - Deugd, Robert de
AU  - Riano, Julián Camilo
AU  - de Vries, Esther
AU  - Cardona, Andrés F
AU  - Rodriguez, July
AU  - Fidalgo-Zapata, Ana
AU  - Sanchez, Yesid
AU  - Sanchez, Santiago
AU  - Olaya, Justo
AU  - de Leon, Daniel
AU  - Ossa, Carlos Andrés
AU  - Reynales, Humberto
AU  - Quintero, Paula
AU  - Vargas, Elizabeth
AU  - Hamann, Ute
AU  - Torres, Diana
TI  - Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
JO  - Diseases
VL  - 13
IS  - 7
SN  - 2079-9721
CY  - Basel
PB  - MDPI
M1  - DKFZ-2025-01547
SP  - 222
PY  - 2025
AB  - 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
KW  - breast cancer (Other)
KW  - cancer registry (Other)
KW  - cancer-associated genes (Other)
KW  - genetic variants (Other)
KW  - ovarian cancer (Other)
KW  - precision medicine (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:40710012
DO  - DOI:10.3390/diseases13070222
UR  - https://inrepo02.dkfz.de/record/303196
ER  -