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000303196 1001_ $$aDeugd, Robert de$$b0
000303196 245__ $$aEstablishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
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000303196 520__ $$aGenetic 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.
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000303196 650_7 $$2Other$$abreast cancer
000303196 650_7 $$2Other$$acancer registry
000303196 650_7 $$2Other$$acancer-associated genes
000303196 650_7 $$2Other$$agenetic variants
000303196 650_7 $$2Other$$aovarian cancer
000303196 650_7 $$2Other$$aprecision medicine
000303196 7001_ $$aRiano, Julián Camilo$$b1
000303196 7001_ $$00000-0002-5560-2258$$ade Vries, Esther$$b2
000303196 7001_ $$aCardona, Andrés F$$b3
000303196 7001_ $$aRodriguez, July$$b4
000303196 7001_ $$aFidalgo-Zapata, Ana$$b5
000303196 7001_ $$aSanchez, Yesid$$b6
000303196 7001_ $$aSanchez, Santiago$$b7
000303196 7001_ $$00000-0002-8029-5560$$aOlaya, Justo$$b8
000303196 7001_ $$ade Leon, Daniel$$b9
000303196 7001_ $$00000-0003-1574-5155$$aOssa, Carlos Andrés$$b10
000303196 7001_ $$aReynales, Humberto$$b11
000303196 7001_ $$00000-0003-2925-7734$$aQuintero, Paula$$b12
000303196 7001_ $$aVargas, Elizabeth$$b13
000303196 7001_ $$0P:(DE-He78)537e07b3e57b16c7b214fc2242e4326b$$aHamann, Ute$$b14
000303196 7001_ $$aTorres, Diana$$b15
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