Patrick R. Benusiglio: Pathogenic germline variants were identified in patients with lung cancer

Patrick R. Benusiglio: Pathogenic germline variants were identified in patients with lung cancer

Patrick R. Benusiglio, Associate Professor of Genetics (MCU-PH) and Head of Clinical Cancer Genetics at AP-HP – Sorbonne Université, Paris, made the following post on X:

“201 selected patients with lung cancer were offered germline testing. Pathogenic germline variants were identified mainly in ATM (n=4), TP53 (3) and BRCA2 (3). All TP53-associated cancer had somatic EGFR activating variants.”

Prevalence of pathogenic or likely pathogenic germline variants in cancer predisposition genes among selected patients with lung adenocarcinoma: The GERMLUNG study

Authors: Oscar Arrieta, Enrique Caballé-Pérez, Norma Hernández-Pedro, Eunice Romero-Nuñez, José Lucio-Lozada, Cesar Castillo-Ruiz, Karla Acevedo-Castillo, Rosa María Álvarez-Gómez, Carolina Molina-Garay, Marco Jiménez-Olivares, Karol Carrillo-Sánchez, Elvia Cristina Mendoza-Caamal, Andrés F. Cardona, Jordi Remon, Carmen Alaez-Verson.

Patrick R. Benusiglio: Pathogenic germline variants were identified in patients with lung cancer

Source: Patrick R. Benusiglio/X

Andres F. Cardona AP-HP Sorbonne Université ATM gene BRCA2 gene cancer cancer genetics cancer predisposition Carmen Alaez-Verson Carolina Molina-Garay Cesar Castillo-Ruiz EGFR variants Elvia Cristina Mendoza-Caamal Enrique Caballé-Pérez Eunice Romero-Nuñez genetic research germline testing GERMLUNG study Jordi Remon José Lucio-Lozada Karla Acevedo-Castillo Karol Carrillo-Sánchez Lung cancer Marco Jiménez-Olivares Norma Hernández-Pedro OncoDaily Oncology Oscar Arrieta pathogenic variants Rosa María Álvarez-Gómez TP53 gene