Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L1365*
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BRCA1

NM_007294.4:p.L1365*

Associated Papers

PARPis response and outcome of ovarian cancer patients with BRCA1/2 germline mutation and a history of breast cancer.

Yuan H et al.

Journal of Gynecologic Oncology, 2024

38246184 (PubMed )
Supplement: jgo-35-e51-s001.xls › jgo-35-e51-i003

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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-s005.xlsx › Chinese

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

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Franceschi S et al.

Cancers, 2021

33922652 (PubMed )
Supplement: cancers-13-02044-s001.zip › Supplementary_Table_S3.xlsx › Supplementary_Table_S3

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-s004.xlsx › BRCA1

BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation.

Vaidyanathan K et al.

Journal of Biosciences, 2009

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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."