Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V299fs
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BRCA1

NM_007294.4:p.V299fs

Associated Papers

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.

Nesic K et al.

Molecular Cancer, 2024

39103848 (PubMed )
Supplement: 12943_2024_2048_MOESM1_ESM.xlsx › Table_S5_-_NGS_data

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.

Nesic K et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36993400 (PubMed )
Supplement: media-1.xlsx › Table_S5_-_BROCA_data

The microtubule inhibitor eribulin demonstrates efficacy in platinum-resistant and refractory high-grade serous ovarian cancer patient-derived xenograft models.

Ho GY et al.

Therapeutic Advances in Medical Oncology, 2023

38028140 (PubMed )
Supplement: sj-xlsx-2-tam-10.1177_17588359231208674.xlsx › Supp_Table_S2

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

Kharel S et al.

The Journal of International Medical Research, 2022

35000471 (PubMed )
Supplement: sj-pdf-3-imr-10.1177_03000605211070757.pdf

Landscape of genomic alterations in high-grade serous ovarian cancer from exceptional long- and short-term survivors.

Yang SYC et al.

Genome Medicine, 2018

Methylation of all BRCA1 copies predicts response to the PARP inhibitor rucaparib in ovarian carcinoma.

Kondrashova O et al.

Nature Communications, 2018

30266954 (PubMed )
Supplement: 41467_2018_5564_MOESM4_ESM.xlsx › Supplementary_Data_1

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10
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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."