Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A1823Splc
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BRCA1

NM_007294.4:p.A1823Splc

Associated Papers

Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers.

De Brakeleer S et al.

Mutation Research, 2007

Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases - preliminary report.

Majdak EJ et al.

European Journal of Cancer (oxford, England : 1990), 2005

Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features.

Berns EM et al.

British Journal of Cancer, 2001

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

Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1.

Verhoog LC et al.

Lancet (london, England), 1998

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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."