A Pathogenic Variant Reclassified to the Pseudogene <i>PMS2P1</i> in a Patient with Suspected Hereditary Cancer.

Fragoso-Ontiveros, Veronica; De la Fuente-Hernandez, Marcela Angelica; Gonzalez-Osnaya, Vincent; Gamez-Rosales, Mario; Perez-Montiel, Maria Delia; Isla-Ortiz, David; Cantu-De Leon, David Francisco; Alvarez-Gomez, Rosa Maria

A Pathogenic Variant Reclassified to the Pseudogene PMS2P1 in a Patient with Suspected Hereditary Cancer.

Fragoso-Ontiveros, Veronica; De la Fuente-Hernandez, Marcela Angelica; Gonzalez-Osnaya, Vincent; Gamez-Rosales, Mario; Perez-Montiel, Maria Delia; Isla-Ortiz, David; Cantu-De Leon, David Francisco; Alvarez-Gomez, Rosa Maria.

Afiliação

Fragoso-Ontiveros V; Hereditary Cancer Clinic, National Cancer Institute, San Fernando 22, Sección XVI, Tlalpan, Mexico City 14070, Mexico.
De la Fuente-Hernandez MA; Hereditary Cancer Clinic, National Cancer Institute, San Fernando 22, Sección XVI, Tlalpan, Mexico City 14070, Mexico.
Gonzalez-Osnaya V; Hereditary Cancer Clinic, National Cancer Institute, San Fernando 22, Sección XVI, Tlalpan, Mexico City 14070, Mexico.
Gamez-Rosales M; Pathology Direction, National Cancer Institute, Mexico City 14080, Mexico.
Perez-Montiel MD; Pathology Direction, National Cancer Institute, Mexico City 14080, Mexico.
Isla-Ortiz D; Gineco-Oncology Department, National Cancer Institute, Mexico City 14080, Mexico.
Cantu-De Leon DF; Research Direction, National Cancer Institute, Mexico City 14080, Mexico.
Alvarez-Gomez RM; Hereditary Cancer Clinic, National Cancer Institute, San Fernando 22, Sección XVI, Tlalpan, Mexico City 14070, Mexico.

Int J Mol Sci ; 24(2)2023 Jan 11.

Article em En | MEDLINE | ID: mdl-36674914

Assuntos

Neoplasias Colorretais Hereditárias sem Polipose; Pseudogenes; Masculino; Feminino; Humanos; Adulto; Pseudogenes/genética; Endonuclease PMS2 de Reparo de Erro de Pareamento/genética; Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico; Neoplasias Colorretais Hereditárias sem Polipose/genética; Neoplasias Colorretais Hereditárias sem Polipose/patologia; Endométrio/patologia; Família; Reparo de Erro de Pareamento de DNA

Palavras-chave

Lynch Syndrome; PMS2; hereditary cancer; pathogenic variant; pseudogene; reclassification

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais Hereditárias sem Polipose / Pseudogenes Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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