Classification of <i>PTEN</i> germline non-truncating variants: a new approach to interpretation
This report proposes a revision of the current <i>PTEN</i> variant classification criteria which at present rely on functional tests evaluating only the phosphatase activity of PTEN and apply a particularly stringent clinical PHTS score.The classification of non-truncating variants of <i>PTEN</i> is facilitated by taking into consideration protein stability for variants with intact phosphatase activity, clinical and segregation criteria adapted to the phenotypic variability of PHTS and by specifying the allelic frequency of variants in the general population. This novel method of classification remains to be validated in a prospective cohort.
Authors
- Michel Longy (ORCID: https://orcid.org/0000-0001-8739-5508)
- Tiffany Busa (ORCID: https://orcid.org/0000-0003-4454-1979)
- Sabine Raad
- Isabelle Mortemousque
- F. Caux (ORCID: https://orcid.org/0000-0001-9552-0882)
- Louise Crivelli
- Natalie Jones (ORCID: https://orcid.org/0000-0003-1597-8098)
- Pauline Monin (ORCID: https://orcid.org/0000-0002-8813-2053)
- Nicolas Sévenet (ORCID: https://orcid.org/0000-0003-4924-4279)
- Thibaut Matis (ORCID: https://orcid.org/0000-0003-1610-9927)
- Virginie Bubien (ORCID: https://orcid.org/0000-0002-2342-6587)
- Solène Conrad (ORCID: https://orcid.org/0000-0003-4996-8357)
- Henri Margot (ORCID: https://orcid.org/0000-0003-1353-0716)
- Dominique Bonneau (ORCID: https://orcid.org/0000-0002-6886-0969)
- Didier Lacombe (ORCID: https://orcid.org/0000-0002-8956-2207)
- Françoise Bonnet
- Sandra Fert‐Ferrer
Institutions
- Centre National de la Recherche Scientifique (FR)
- Université de Bordeaux (FR)
- Inserm (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Centre Hospitalier Universitaire de Nantes (FR)
- Assistance Publique Hôpitaux de Marseille (FR)
- Centre Hospitalier Universitaire de Tours (FR)
- Bordeaux Population Health (FR)
- Services déconcentrés d'appui à la recherche Pays de la Loire (FR)
- Centre Hospitalier Métropole Savoie (FR)
- Centre Eugène Marquis (FR)
- Hôpital Pellegrin (FR)
- Hôpital Lyon Sud (FR)
- Hôpital Avicenne (FR)
- Services déconcentrés d'appui à la recherche Val de Loire (FR)
- Institut Bergonié (FR)
- Agence Régionale de Santé Nouvelle-Aquitaine (FR)
- Université d'Angers (FR)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-10-02
- DOI
- https://doi.org/10.1136/jmg-2024-109982
- Citations
- 1
- Primary Topic
- PI3K/AKT/mTOR signaling in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Institut National Du Cancer