Sara Torres-Esquius, Alba Llop-Guevara, Sara Gutiérrez-Enríquez, Marcel Romey, Àlex Teulé, Gemma Llort, Ana Herrero, Pilar Sánchez-Henarejos, Anna Vallmajó, Santiago González-Santiago, Isabel Chirivella, Juana Maria Cano, Begoña Graña, Sara Simonetti, Isabela Díaz de Corcuera, Teresa Ramon Y Cajal, Judit Sanz, Sara Serrano, Andrea Otero, Cristina Churruca, Ana Beatriz Sánchez-Heras, Sonia Servitja, Carmen Guillén-Ponce, Joan Brunet, Carsten Denkert, Violeta Serra, Judith Balmaña
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 the clinical and tumor characteristics of germline RAD51C/D PV carriers, including the evaluation of HRD status...
April 1, 2024: JAMA Network Open