Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E294*
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BRCA2

NM_000059.4:p.E294*

Associated Papers

Tumor-informed circulating tumor DNA detection for personalized monitoring of treatment response in epithelial ovarian cancer.

Kang SW et al.

Practical Laboratory Medicine, 2025

40994830 (PubMed )
Supplement: mmc1.docx

Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.

Han L et al.

Cancer Science, 2025

40022542 (PubMed )
Supplement: CAS-116-1449-s007.xlsx › TCGA_n_569_

The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.

Hinić S et al.

Jnci Cancer Spectrum, 2024

38848470 (PubMed )
Supplement: pkae044_supplementary_data.zip › JNCICS-24-0030R1_Supplementary_Table1_20.3.xlsx › Supplemental_Table_1

Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.

Kawamura M et al.

Journal of Human Genetics, 2023

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

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM14_ESM.xlsx › TCGAOvarian_gBRCA

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 › BRCA2

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Lee Y et al.

Cancer Research and Treatment, 2021

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM3_ESM.xlsx › Sheet1

Ancestry-specific predisposing germline variants in cancer.

Oak N et al.

Genome Medicine, 2020

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 › ENIGMA

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-s005.xlsx › dbBRCA2

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.

Yost S et al.

Jnci Cancer Spectrum, 2019

31360904 (PubMed )
Supplement: supplementary_table_pkz028.zip › 20181104_Supplementary_Tables.xlsx › Supplementary_Table_1

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 2018

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Maxwell KN et al.

Nature Communications, 2017

28831036 (PubMed )
Supplement: 41467_2017_388_MOESM2_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

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-13.xlsx › S_Data_12

Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer.

Liu G et al.

Pharmacogenomics, 2012

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H et al.

Breast Cancer Research and Treatment, 2012

Integrated genomic analyses of ovarian carcinoma.

Unknown Author

Nature, 2011

21720365 (PubMed )
Supplement: NIHMS313090-supplement-8.pdf

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

Veschi S et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007

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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."