Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R1737*
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BRCA1

NM_007294.4:p.R1737*

Associated Papers

Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.

Tuncer SB et al.

Pathology, Research and Practice, 2024

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

BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making.

Pavese F et al.

Cancers, 2022

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

Variomes: a high recall search engine to support the curation of genomic variants.

Pasche E et al.

Bioinformatics (oxford, England), 2022

35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.

Abreu RBV et al.

Frontiers in Pharmacology, 2022

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

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

Chang S et al.

The Journal of Clinical Investigation, 2009

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