Access disparities and underutilization of germline genetic testing in Chilean breast cancer patients

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dc.catalogadorpva
dc.contributor.authorAcevedo Claros, Francisco Nicolás
dc.contributor.authorWalbaum García, Benjamín Vicente
dc.contributor.authorCamus Appuhn, Mauricio Gonzalo
dc.contributor.authorManzor Véliz, Manuel
dc.contributor.authorMuñiz Muñoz, María Sabrina
dc.contributor.authorMedina Araya, Lidia
dc.contributor.authorPetric Guajardo, Militza Paulina
dc.contributor.authorReyes, Paula
dc.contributor.authorDomínguez, Francisco
dc.contributor.authorPuschel Illanes, Klaus
dc.contributor.authorMerino Lara, Tomás Rodrigo
dc.contributor.authorBravo, M. Loreto
dc.contributor.authorPinto, Mauricio P.
dc.contributor.authorIbáñez, Carolina
dc.contributor.authorHughes, Kevin
dc.contributor.authorSánchez Rojel, César Giovanni
dc.date.accessioned2024-01-19T18:21:51Z
dc.date.available2024-01-19T18:21:51Z
dc.date.issued2023
dc.description.abstractPurpose Latin American reports on genetic cancer risk assessments are scarce. In Chile, current breast cancer (BC) guidelines do not define strategies for germline genetic testing. Our study sought to quantify the disparities in access to genetic testing in Chilean BC patients, according to international standards and their clinical characteristics to explore improvement strategies.Methods Retrospective analysis of invasive BC databases including patients treated in a Public Hospital (PH) and in an Academic Private Center (AC) in Santiago, Chile between 2012 and 2021.Results Of 5438 BC patients, 3955 had enough data for National Comprehensive Cancer Network (NCCN) categorization. From these, 1911 (48.3%) fulfilled NCCN criteria for germline testing, of whom, 300 were tested for germline mutations and 268 with multigene panels. A total of 65 pathogenic variants were found in this subset. As expected, BRCA1/2 mutations were the most frequent (17.7%). Access to genetic testing was higher in AC versus PH (19.6% vs. 10.3%, p = 0.0001). Other variables associated with germline genetic testing were BC diagnosis after 2018, being 45 years old or younger at diagnosis, BC family history (FH), FH of ovarian cancer, non-metastatic disease, and triple-negative subtype.Conclusion In our cohort, 15% of BC patients who met NCCN criteria for germline testing were effectively tested. This percentage was even lower at the PH. Current recommendations encourage universal genetic testing for BC patients; however, our findings suggest that Chile is far from reaching such a goal and national guidelines in this regard are urgently needed. To our knowledge, this is the first study of its kind in Chile and Latin America.
dc.fechaingreso.objetodigital2024-01-31
dc.fuente.origenORCID-ene24
dc.identifier.doi10.1007/s10549-023-06909-z
dc.identifier.urihttp://dx.doi.org/10.1007/s10549-023-06909-z
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80822
dc.information.autorucEscuela de Medicina; Acevedo Claros, Francisco Nicolás; 0000-0003-3482-7746; 119540
dc.information.autorucEscuela de Medicina; Walbaum García, Benjamín Vicente; 0000-0003-2314-5360; 163702
dc.information.autorucEscuela de Medicina; Camus Appuhn, Mauricio Gonzalo; 0000-0002-8409-5240; 100235
dc.information.autorucEscuela de Medicina; Manzor Véliz, Manuel; S/I; 172165
dc.information.autorucEscuela de Medicina; Muñiz Muñoz, María Sabrina; S/I; 1023831
dc.information.autorucEscuela de Enfermería; Medina Araya, Lidia; S/I; 18566
dc.information.autorucEscuela de Medicina; Petric Guajardo, Militza Paulina; S/I; 218626
dc.information.autorucEscuela de Medicina; Puschel Illanes, Klaus; 0000-0002-1362-1311; 83957
dc.information.autorucEscuela de Medicina; Merino Lara, Tomás Rodrigo; S/I; 119017
dc.information.autorucEscuela de Medicina; Sánchez Rojel, César Giovanni; 0000-0002-2920-108X; 135644
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final370
dc.pagina.inicio363
dc.revistaBreast Cancer Research and Treatment
dc.rightsacceso restringido
dc.subjectBreast cancer
dc.subjectGerminal gene testing
dc.subjectBRCA
dc.subjectAccess disparities
dc.subjectLatin American
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleAccess disparities and underutilization of germline genetic testing in Chilean breast cancer patients
dc.typeartículo
dc.volumen199
sipa.codpersvinculados119540
sipa.codpersvinculados163702
sipa.codpersvinculados100235
sipa.codpersvinculados172165
sipa.codpersvinculados1023831
sipa.codpersvinculados18566
sipa.codpersvinculados218626
sipa.codpersvinculados83957
sipa.codpersvinculados119017
sipa.codpersvinculados135644
sipa.trazabilidadORCID;2024-01-08
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