Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1692Splc
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BRCA1

NM_007294.4:p.D1692Splc

Associated Papers

Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.

Ekram SN et al.

Discover Oncology, 2025

Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma.

Pitiyarachchi O et al.

Translational Oncology, 2023

36805919 (PubMed )
Supplement: mmc1.docx

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › Asian_only

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

The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.

Chen JM et al.

Current Genomics, 2020

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.

Abulkhair O et al.

Journal of Global Oncology, 2018

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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."