Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1731_H1732Splc
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BRCA1

NM_007294.4:p.E1731_H1732Splc

Associated Papers

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Fu X et al.

Frontiers in Cell and Developmental Biology, 2022

35300412 (PubMed )
Supplement: DataSheet1.xlsx › Sheet1

Precision Oncology of High-Grade Ovarian Cancer Defined through Targeted Sequencing.

Wessman S et al.

Cancers, 2021

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.

Figlioli G et al.

Cancers, 2021

33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table

[Ovarian cancer is in many ways a heterogeneous disease].

Malander S et al.

Lakartidningen, 2015

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF et al.

American Journal of Human Genetics, 2007

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.

Campos B et al.

Human Mutation, 2003

Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both.

de la Hoya M et al.

Jama, 2003

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

Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene.

de la Hoya M et al.

International Journal of Cancer, 2001

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