Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.

Rayner, Emily; Tiersma, Yvonne; Fortuno, Cristina; van Hees-Stuivenberg, Sandrine; Drost, Mark; Thompson, Bryony; Spurdle, Amanda B; de Wind, Niels

Rayner, Emily; Tiersma, Yvonne; Fortuno, Cristina; van Hees-Stuivenberg, Sandrine; Drost, Mark; Thompson, Bryony; Spurdle, Amanda B; de Wind, Niels.

Afiliação

Rayner E; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Tiersma Y; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Fortuno C; Princess Maxima Center for Child Oncology, Utrecht, the Netherlands.
van Hees-Stuivenberg S; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Drost M; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Thompson B; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Spurdle AB; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
de Wind N; Department of Pathology, Royal Melbourne Hospital, Parkville, Victoria, Australia.

Hum Mutat ; 43(9): 1249-1258, 2022 09.

Article em En | MEDLINE | ID: mdl-35451539

Assuntos

Neoplasias Colorretais Hereditárias sem Polipose; Endonuclease PMS2 de Reparo de Erro de Pareamento; Neoplasias Colorretais Hereditárias sem Polipose/genética; Neoplasias Colorretais Hereditárias sem Polipose/patologia; Reparo de Erro de Pareamento de DNA/genética; Proteínas de Ligação a DNA/genética; Testes Genéticos/métodos; Humanos; Endonuclease PMS2 de Reparo de Erro de Pareamento/genética; Proteína 1 Homóloga a MutL/genética; Proteína 2 Homóloga a MutS/genética

Palavras-chave

DNA mismatch repair; Lynch syndrome; PMS2; diagnostic assessment; functional analysis-based classification; variants of uncertain significance

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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