Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L63_C64insFs
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BRCA1

NM_007294.4:p.L63_C64insFs

Associated Papers

[Breast cancer in monozygotic twins].

Hladíková A et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2013

[Hereditary leiomyomatosis and renal cell cancer - HLRCC/multiple cutaneous and uterine leimomyomatosis - MCUL].

Plevová P et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation.

Lasa A et al.

Breast Cancer Research and Treatment, 2010

Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations.

Osorio A et al.

European Journal of Human Genetics : Ejhg, 2003

Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population.

de la Hoya M et al.

International Journal of Cancer, 2002

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.

Llort G et al.

Human Mutation, 2002

BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.

Díez O et al.

International Journal of Cancer, 1999

Differences in phenotypic expression of a new BRCA1 mutation in identical twins.

Diez O et al.

Lancet (london, England), 1997

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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."