Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1511K
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BRCA2

NM_000059.4:p.E1511K

Associated Papers

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

Yeh CN et al.

Npj Precision Oncology, 2025

39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I et al.

European Journal of Breast Health, 2023

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A et al.

Breast (edinburgh, Scotland), 2022

35753294 (PubMed )
Supplement: mmc1.pdf

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Momozawa_et_al.

Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Kohli M et al.

Ebiomedicine, 2020

32268276 (PubMed )
Supplement: mmc5.xlsx › cfDNA_SNV

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Lasorsa VA et al.

Oncotarget, 2016

27009842 (PubMed )
Supplement: oncotarget-07-21840-s008.xlsx › Supplementary_Table_7
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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."