Publications:

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PTEN: 801+1delG

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 10

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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

Human Mutation

Mester, Jessica L JL; Ghosh, Rajarshi R; Pesaran, Tina T; Huether, Robert R; Karam, Rachid R; Hruska, Kathleen S KS; Costa, Helio A HA; Lachlan, Katherine K; Ngeow, Joanne J; Barnholtz-Sloan, Jill J; Sesock, Kaitlin K; Hernandez, Felicia F; Zhang, Liying L; Milko, Laura L; Plon, Sharon E SE; Hegde, Madhuri M; Eng, Charis C

Publication Date: 2018-11

Variant appearance in text: PTEN: 801+1delG

PubMed Link: 30311380

Variant Present in the following documents:

• Main text

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Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

Breast Cancer Research : Bcr

Banneau, Guillaume G; Guedj, Mickaël M; MacGrogan, Gaëtan G; de Mascarel, Isabelle I; Velasco, Valerie V; Schiappa, Renaud R; Bonadona, Valerie V; David, Albert A; Dugast, Catherine C; Gilbert-Dussardier, Brigitte B; Ingster, Olivier O; Vabres, Pierre P; Caux, Frederic F; de Reynies, Aurelien A; Iggo, Richard R; Sevenet, Nicolas N; Bonnet, Françoise F; Longy, Michel M

Publication Date: 2010

Variant appearance in text: PTEN: 801+1delG

PubMed Link: 20712882

Variant Present in the following documents:

• Main text
• bcr2626.pdf

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