Contribution of large genomic rearrangements in <i>PALB2</i> to familial breast cancer: implications for genetic testing.

Li, Na; Zethoven, Magnus; McInerny, Simone; Healey, Eliza; DeSilva, Dilanka; Devereux, Lisa; Scott, Rodney J; James, Paul A; Campbell, Ian G

Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.

Li, Na; Zethoven, Magnus; McInerny, Simone; Healey, Eliza; DeSilva, Dilanka; Devereux, Lisa; Scott, Rodney J; James, Paul A; Campbell, Ian G.

Afiliación

Li N; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Zethoven M; Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
McInerny S; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.
Healey E; Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
DeSilva D; Bioinformatics Core Facility, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Devereux L; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Scott RJ; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Victoria, Australia.
James PA; Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Campbell IG; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.

J Med Genet ; 60(2): 112-118, 2023 02.

Article en En | MEDLINE | ID: mdl-35396271

Asunto(s)

Neoplasias de la Mama; Neoplasias Ováricas; Humanos; Femenino; Neoplasias de la Mama/diagnóstico; Neoplasias de la Mama/genética; Proteína del Grupo de Complementación N de la Anemia de Fanconi/genética; Genes BRCA1; Genes BRCA2; Neoplasias Ováricas/genética; Australia/epidemiología; Pruebas Genéticas; Proteína BRCA1/genética; Proteína BRCA2/genética; Genómica; Predisposición Genética a la Enfermedad; Mutación de Línea Germinal

Palabras clave

genetic testing; genetic variation; germ-line mutation; medical oncology; women's health

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias de la Mama Tipo de estudio: Prognostic_studies Límite: Female / Humans País/Región como asunto: Oceania Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Australia

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