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Cascade genetic testing: an underutilized pathway to equitable cancer care?
Wilke, Roni Nitecki; Bednar, Erica M; Pirzadeh-Miller, Sara; Lahiri, Sayoni; Scarinci, Isabel C; Leath Iii, Charles A; Frey, Melissa K; Lu, Karen H; Rauh-Hain, J Alejandro.
Afiliación
  • Wilke RN; Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, 1155 Herman Pressler Drive, 77030-1362, Houston, TX, USA. rnitecki@mdanderson.org.
  • Bednar EM; Cancer Prevention and Control Platform, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
  • Pirzadeh-Miller S; Cancer Genetics, The University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Lahiri S; Cancer Genetics, The University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Scarinci IC; Division of Preventive Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Leath Iii CA; O'Neal Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Frey MK; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.
  • Lu KH; Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, 1155 Herman Pressler Drive, 77030-1362, Houston, TX, USA.
  • Rauh-Hain JA; Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, 1155 Herman Pressler Drive, 77030-1362, Houston, TX, USA.
Fam Cancer ; 23(2): 141-145, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38748383
ABSTRACT
The Precision Medicine Initiative was launched upon the potential of genomic information to tailor medical care. Cascade genetic testing represents a powerful application of precision medicine and involves the process of familial diffusion or the "cascade" of genomic risk information. When an individual (proband) is found to carry a cancer-associated germline pathogenic mutation, the information should be cascaded or shared with at-risk relatives. First degree relatives have a 50% likelihood of carrying the same cancer-associated mutation. This process of cascade testing offers at-risk relatives the opportunity for genetic testing and, for those who also carry the cancer-associated mutation, genetically targeted primary disease prevention through intensive cancer surveillance, chemoprevention and risk-reducing surgery, reducing morbidity and preventing mortality. Cascade testing has been designated by the Centers for Disease Control and Prevention as a Tier 1 genomic application for hereditary breast and ovarian cancer. In this manuscript we describe a cascade genetic testing and in particular focus on its potential to provide necessary care to medically underserved and vulnerable populations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Predisposición Genética a la Enfermedad Límite: Female / Humans Idioma: En Revista: Fam Cancer Asunto de la revista: NEOPLASIAS Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Predisposición Genética a la Enfermedad Límite: Female / Humans Idioma: En Revista: Fam Cancer Asunto de la revista: NEOPLASIAS Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Países Bajos