A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review

A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review

Abstract Background Several recent studies in the Baltic region have found extended spectrum of pathogenic variants (PV) of the BRCA1/2 genes. The aim of current study is to analyze the spectrum of the BRCA1/2 PV in population of Latvia and to compare common PV between populations of the Baltic regi...

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Bibliographic Details
Main Authors: P. Loza, A. Irmejs, Z. Daneberga, E. Miklasevics, E. Berga-Svitina, S. Subatniece, J. Maksimenko, G. Trofimovics, E. Tauvena, S. Ukleikins, J. Gardovskis
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
BRCA1
BRCA2
C.5266dupC
C.4035delA
C.181 T > G
C.5117G > A (p.Gly1706Glu)
Online Access:https://doi.org/10.1186/s13053-021-00168-z

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