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The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
Høberg-Vetti, Hildegunn; Ognedal, Elisabet; Buisson, Adrien; Vamre, Tone Bøe Aaman; Ariansen, Sarah; Hoover, Jacqueline M; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Bjorvatn, Cathrine; Knappskog, Per Morten.
Afiliação
  • Høberg-Vetti H; Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway. hildegunn.hoberg.vetti@helse-bergen.no.
  • Ognedal E; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. hildegunn.hoberg.vetti@helse-bergen.no.
  • Buisson A; Department of Clinical Science, University of Bergen, Bergen, Norway. hildegunn.hoberg.vetti@helse-bergen.no.
  • Vamre TBA; Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.
  • Ariansen S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Hoover JM; Hospices Civils de Lyon, Lyon, France.
  • Eide GE; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Houge G; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Fiskerstrand T; Allegheny Health Network, Pittsburgh, PA, USA.
  • Haukanes BI; Centre for Clinical Research, Haukeland University Hospital, Bergen, Norway.
  • Bjorvatn C; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
  • Knappskog PM; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Eur J Hum Genet ; 28(8): 1078-1086, 2020 08.
Article em En | MEDLINE | ID: mdl-32203205
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação Puntual / Proteína BRCA1 / Penetrância / Síndrome Hereditária de Câncer de Mama e Ovário Tipo de estudo: Health_economic_evaluation Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação Puntual / Proteína BRCA1 / Penetrância / Síndrome Hereditária de Câncer de Mama e Ovário Tipo de estudo: Health_economic_evaluation Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article