Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1395_Q1396Splc
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BRCA1

NM_007294.4:p.Q1395_Q1396Splc

Associated Papers

From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.

Al Bader SB et al.

Biomedicines, 2025

41463058 (PubMed )
Supplement: biomedicines-13-03047-s001.zip › biomedicines-4005941-supplementary.pdf

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

Elfatih A et al.

European Journal of Human Genetics : Ejhg, 2024

39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.

Zanti M et al.

Frontiers in Genetics, 2023

Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Ho PJ et al.

Bmc Medicine, 2022

35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2

Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Yao J et al.

Cancer Biology & Medicine, 2022

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

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families.

Hartikainen JM et al.

Clinical Genetics, 2007

Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G.

Svojanovsky SR et al.

Human Mutation, 2000

Founder populations and their uses for breast cancer genetics.

Neuhausen SL

Breast Cancer Research : Bcr, 2000

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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."