Article
Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.
JAMA network open - 1 Apr 2024
Torres-Esquius Sara, Llop-Guevara Alba, Gutiérrez-Enríquez Sara, Romey Marcel, Teulé Àlex, Llort Gemma, Herrero Ana, Sánchez-Henarejos Pilar, Vallmajó Anna, González-Santiago Santiago, Chirivella Isabel, Cano Juana Maria, Graña Begoña, Simonetti Sara, Díaz de Corcuera Isabela, Ramon Y Cajal Teresa, Sanz Judit, Serrano Sara, Otero Andrea, Churruca Cristina, Sánchez-Heras Ana Beatriz, Servitja Sonia, Guillén-Ponce Carmen, Brunet Joan, Denkert Carsten, Serra Violeta, Balmaña Judith
Abstract excerpt
Importance: RAD51C and RAD51D are involved in DNA repair by homologous recombination. Germline pathogenic variants (PVs) in these genes are associated with an increased risk of ovarian and breast cancer. Understanding the homologous recombination deficiency (HRD) status of tumors from patients with germline PVs in RAD51C/D could guide therapeutic decision-making and improve survival. Objective: To characterize...
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