Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1200_R1204delFs
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BRCA1

NM_007294.4:p.Q1200_R1204delFs

Associated Papers

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA1

Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population.

de Juan Jiménez I et al.

Familial Cancer, 2012

High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations.

de Juan I et al.

Breast Cancer Research and Treatment, 2009

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

Miramar MD et al.

Breast Cancer Research and Treatment, 2008

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

Peixoto A et al.

Familial Cancer, 2006

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."