Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D397delFs
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BRCA1

NM_007294.4:p.D397delFs

Associated Papers

A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation.

Salgado J et al.

Oncology Letters, 2011

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

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers.

Baeyens A et al.

International Journal of Radiation Biology, 2004

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

Papelard H et al.

British Journal of Cancer, 2000

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.

Claes K et al.

Disease Markers, 1999

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online.

Claes K et al.

Human Mutation, 1999

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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."