Case Reports Letter Journal Article Ppublish
PubMed: 39900383 DOI: 10.1111/cge.14721
Digenic Inheritance of Monoallelic MUTYH and POLE Germline Variants in Adrenocortical Carcinoma: Implications for Tumorigenesis and Immunotherapy.
Clin Genet 107(6):699-701
Authors: Jonathan Lopez, Adrien Buisson, Adel Ounnas, Gaelle Tachon, Alain Viari, Florence De Fraipont, Juliette Albuisson, Marc Barritault, Pierre-Paul Bringuier, Jean-Paul Feugeas, Anne Mc Leer, Ahmed Bouras
Affiliations
- GCS AURAGEN, Lyon, France. Biochemistry and Molecular Biology Department, Hospices Civils de Lyon, Hôpital Lyon Sud, Pierre-Bénite, France.
- GCS AURAGEN, Lyon, France.
- Department of Biopathology, Centre Léon Bérard, Lyon, France.
- Medical Unit of Molecular Genetics, Grenoble University Hospital, Grenoble, France.
- Department of Pathology and Tumor Biology, Georges-François Leclerc Center, Dijon, France.
- Department of Pathology, Groupe Hospitalier Est, Hospices Civils de Lyon, Bron, France.
- Laboratoire de Biochimie Hôpital Jean Minjoz, Université de Franche-Comté, Besançon, France.
- Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France.
Abstract
Collision of monoallelic MUTYH and POLE germline variants in a patient with adrenocortical carcinoma who achieved a strong response to immunotherapy.
MeSH
Immunotherapy, Carcinogenesis, Adrenocortical Carcinoma, Genetics, Medical