Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K45Splc
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BRCA1

NM_007294.4:p.K45Splc

Associated Papers

Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer.

Morgan RD et al.

British Journal of Cancer, 2024

39550490 (PubMed )
Supplement: 41416_2024_2874_MOESM10_ESM.xlsx › Supplementary_Table_S2

BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity.

Wu B et al.

Journal for Immunotherapy of Cancer, 2023

36731891 (PubMed )
Supplement: jitc-2022-005852supp005.pdf

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

Determinants of Response to Talazoparib in Patients with HER2-Negative, Germline BRCA1/2-Mutated Breast Cancer.

Blum JL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35091441 (PubMed )
Supplement: ccr-21-2080_supplementary_tables_1-5_supp1-5.pdf

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA1_ethnic_source_

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM et al.

Nature, 2018

30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_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."