Familial cancerHumansFemaleAMP-Activated Protein Kinase KinasesGerm-Line MutationProtein Serine-Threonine Kinases
Reclassification of an uncertain STK11 germline variant as likely pathogenic: a family study.
Lorena Moreno, Miriam Cuatrecasas, Elia Grau, Míriam Potrony, Josep Oriola, Joan Anton Puig-Butillé, Teresa Ocaña, Teresa Ramón Y Cajal, Francesc Balaguer, Sabela Carballal
Published: 202510.1007/s10689-025-00499-z
Abstract
Early-onset breast cancer in a woman prompted referral for genetic counseling, due to suspected hereditary cancer predisposition. After collecting a detailed personal and family medical history and providing comprehensive pre-test counseling, the pat…
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