Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.C197delFs
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BRCA1

NM_007294.4:p.C197delFs

Associated Papers

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.

Loza P et al.

Hereditary Cancer in Clinical Practice, 2021

Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.

Wu H et al.

Gene Therapy, 2017

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.

Diez O et al.

Familial Cancer, 2010

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M et al.

Pathology, 2008

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O et al.

Human Mutation, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."