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Reclassification of an uncertain STK11 germline variant as likely pathogenic: a family study.

Familial cancer - 7 Oct 2025

Moreno Lorena, Cuatrecasas Miriam, Grau Elia, Potrony Míriam, Oriola Josep, Puig-Butillé Joan Anton, Ocaña Teresa, Ramón Y Cajal Teresa, Balaguer Francesc, Carballal Sabela

Abstract excerpt

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 patient consented to a multigene panel test for breast cancer susceptibility. Genetic analysis revealed a germline variant, c.662 C > T p.(Pro221Leu), in the STK11 gene,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41055755
DOI: 10.1007/s10689-025-00499-z

Genes

STK11

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