Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: PTEN: Y177H

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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PTEN Loss-of-Function Alterations Are Associated With Intrinsic Resistance to BRAF Inhibitors in Metastatic Melanoma.

Jco Precision Oncology

Catalanotti, Federica F; Cheng, Donavan T DT; Shoushtari, Alexander N AN; Johnson, Douglas B DB; Panageas, Katherine S KS; Momtaz, Parisa P; Higham, Catherine C; Won, Helen H HH; Harding, James J JJ; Merghoub, Taha T; Rosen, Neal N; Sosman, Jeffrey A JA; Berger, Michael F MF; Chapman, Paul B PB; Solit, David B DB

Publication Date: 2017

Variant appearance in text: PTEN: Y177H

PubMed Link: 32913971

Variant Present in the following documents:

• Main text

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Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital.

Cancers

Simarro, Javier J; Murria, Rosa R; Pérez-Simó, Gema G; Llop, Marta M; Mancheño, Nuria N; Ramos, David D; Juan, Inmaculada de I; Barragán, Eva E; Laiz, Begoña B; Cases, Enrique E; Ansótegui, Emilio E; Gómez-Codina, José J; Aparicio, Jorge J; Salvador, Carmen C; Juan, Óscar Ó; Palanca, Sarai S

Publication Date: 2019-08-16

Variant appearance in text: PTEN: 529T>C; Tyr177His

PubMed Link: 31426418

Variant Present in the following documents:

• cancers-11-01196-s001.pdf

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