Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G1371G
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BRCA1

NM_007294.4:p.G1371G

Associated Papers

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.

Shaw CA et al.

American Journal of Human Genetics, 2025

40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Matta BP et al.

Scientific Reports, 2022

36329109 (PubMed )
Supplement: 41598_2022_23012_MOESM2_ESM.xlsx › Supplementary_Table_S2_

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

Hovland HN et al.

Familial Cancer, 2022

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ARUP

Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

Montalban G et al.

Human Mutation, 2019

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F et al.

Disease Markers, 2012

BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

Cherbal F et al.

Disease Markers, 2010

Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer.

Troudi W et al.

Cancer Biomarkers : Section a of Disease Markers, 2008

Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia.

Troudi W et al.

Journal of Human Genetics, 2007

Germline and Somatic mutations in postmenopausal breast cancer patients.

Nagy TR et al.

Clinics (sao Paulo, Brazil), 0

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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."