Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N319T
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BRCA1

NM_007294.4:p.N319T

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 › BRCA2

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA2_ethnic_sources_

Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Fernández-Lopez JC et al.

Human Genomics, 2019

30630528 (PubMed )
Supplement: 40246_2018_188_MOESM3_ESM.xlsx › Hoja1

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.

Buzolin AL et al.

Human Genomics, 2017

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

Peixoto A et al.

Clinical Genetics, 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

Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study.

Beristain E et al.

Clinical Genetics, 2009

Functional assays for classification of BRCA2 variants of uncertain significance.

Farrugia DJ et al.

Cancer Research, 2008

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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."