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Changes in classification of genetic variants in BRCA1 and BRCA2.
Kast, Karin; Wimberger, Pauline; Arnold, Norbert.
Afiliação
  • Kast K; Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307, Dresden, Germany. karin.kast@uniklinikum-dresden.de.
  • Wimberger P; National Center for Tumor Diseases (NCT), Partner Site Dresden, Dresden, Germany. karin.kast@uniklinikum-dresden.de.
  • Arnold N; German Cancer Consortium (DKTK), Dresden and German Cancer Research Center (DKFZ), Heidelberg, Germany. karin.kast@uniklinikum-dresden.de.
Arch Gynecol Obstet ; 297(2): 279-280, 2018 02.
Article em En | MEDLINE | ID: mdl-29302806
INTRODUCTION: Classification of variants of unknown significance (VUS) in the breast cancer genes BRCA1 and BRCA2 changes with accumulating evidence for clinical relevance. In most cases down-staging towards neutral variants without clinical significance is possible. METHODS: We searched the database of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for changes in classification of genetic variants as an update to our earlier publication on genetic variants in the Centre of Dresden. Changes between 2015 and 2017 were recorded. RESULTS: In the group of variants of unclassified significance (VUS, Class 3, uncertain), only changes of classification towards neutral genetic variants were noted. In BRCA1, 25% of the Class 3 variants (n = 2/8) changed to Class 2 (likely benign) and Class 1 (benign). In BRCA2, in 50% of the Class 3 variants (n = 16/32), a change to Class 2 (n = 10/16) or Class 1 (n = 6/16) was observed. No change in classification was noted in Class 4 (likely pathogenic) and Class 5 (pathogenic) genetic variants in both genes. No up-staging from Class 1, Class 2 or Class 3 to more clinical significance was observed. CONCLUSION: All variants with a change in classification in our cohort were down-staged towards no clinical significance by a panel of experts of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Prevention in families with Class 3 variants should be based on pedigree based risks and should not be guided by the presence of a VUS.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Variação Genética / Neoplasias da Mama / Proteína BRCA1 / Genes BRCA1 / Proteína BRCA2 / Genes BRCA2 Limite: Female / Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Variação Genética / Neoplasias da Mama / Proteína BRCA1 / Genes BRCA1 / Proteína BRCA2 / Genes BRCA2 Limite: Female / Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article